Stephan Zuchner - Publications

Affiliations: 
Neuroscience (Medicine) University of Miami, Coral Gables, FL 
Area:
Neuroscience Biology, Genetics, Medicine and Surgery

190 high-probability publications. We are testing a new system for linking publications to authors. You can help! If you notice any inaccuracies, please sign in and mark papers as correct or incorrect matches. If you identify any major omissions or other inaccuracies in the publication list, please let us know.

Year Citation  Score
2021 Schüle R, Timmann D, Erasmus CE, Reichbauer J, Wayand M, van de Warrenburg B, Schöls L, Wilke C, Bevot A, Zuchner S, Beltran S, Laurie S, Matalonga L, Graessner H, et al. Correction: Solving unsolved rare neurological diseases-a Solve-RD viewpoint. European Journal of Human Genetics : Ejhg. PMID 34429526 DOI: 10.1038/s41431-021-00935-5  1
2021 Xie Y, Lin Z, Liu L, Li X, Huang S, Zhao H, Binghao W, Zeng S, Cao W, Li L, Zhu X, Huang S, Yang H, Wang M, Hu Z, ... ... Zuchner S, et al. Genotype and phenotype distribution of 435 patients with Charcot-Marie-Tooth disease from Central South China. European Journal of Neurology. PMID 34255403 DOI: 10.1111/ene.15024  0.01
2021 Traschütz A, Reich S, Adarmes AD, Anheim M, Ashrafi MR, Baets J, Basak AN, Bertini E, Brais B, Gagnon C, Gburek-Augustat J, Hanagasi HA, Heinzmann A, Horvath R, de Jonghe P, ... ... Zuchner S, et al. The ARCA Registry: A Collaborative Global Platform for Advancing Trial Readiness in Autosomal Recessive Cerebellar Ataxias. Frontiers in Neurology. 12: 677551. PMID 34248822 DOI: 10.3389/fneur.2021.677551  1
2021 Henry Akintobi T, Sheikhattari P, Shaffer E, Evans CL, Braun KL, Sy AU, Mancera B, Campa A, Miller ST, Sarpong D, Holliday R, Jimenez-Chavez J, Khan S, Hinton C, Sellars-Bates K, ... ... Zuchner S, et al. Community Engagement Practices at Research Centers in U.S. Minority Institutions: Priority Populations and Innovative Approaches to Advancing Health Disparities Research. International Journal of Environmental Research and Public Health. 18. PMID 34205781 DOI: 10.3390/ijerph18126675  0.01
2021 Collier JJ, Guissart C, Oláhová M, Sasorith S, Piron-Prunier F, Suomi F, Zhang D, Martinez-Lopez N, Leboucq N, Bahr A, Azzarello-Burri S, Reich S, Schöls L, Polvikoski TM, Meyer P, ... ... Zuchner S, et al. Developmental Consequences of Defective ATG7-Mediated Autophagy in Humans. The New England Journal of Medicine. 384: 2406-2417. PMID 34161705 DOI: 10.1056/NEJMoa1915722  1
2021 Rebelo AP, Cortese A, Abraham A, Eshed-Eisenbach Y, Shner G, Vainshtein A, Buglo E, Camarena V, Gaidosh G, Shiekhattar R, Abreu L, Courel S, Burns DK, Bai Y, Bacon C, ... ... Zuchner S, et al. Erratum to: A CADM3 variant causes Charcot-Marie-Tooth disease with marked upper limb involvement. Brain : a Journal of Neurology. PMID 34037698 DOI: 10.1093/brain/awab181  1
2021 Schüle R, Timmann D, Erasmus CE, Reichbauer J, Wayand M, van de Warrenburg B, Schöls L, Wilke C, Bevot A, Zuchner S, Beltran S, Laurie S, Matalonga L, Graessner H, et al. Solving unsolved rare neurological diseases-a Solve-RD viewpoint. European Journal of Human Genetics : Ejhg. PMID 33972714 DOI: 10.1038/s41431-021-00901-1  1
2021 Rebelo AP, Cortese A, Abraham A, Eshed-Eisenbach Y, Shner G, Vainshtein A, Buglo E, Camarena V, Gaidosh G, Shiekhattar R, Abreu L, Courel S, Burns DK, Bai Y, Bacon C, ... ... Zuchner S, et al. A CADM3 variant causes Charcot-Marie-Tooth disease with marked upper limb involvement. Brain : a Journal of Neurology. PMID 33889941 DOI: 10.1093/brain/awab019  1
2020 De Winter J, Beijer D, De Ridder W, Synofzik M, Zuchner SL, Van Damme P, Spileers W, Baets J. PCYT2 mutations disrupting etherlipid biosynthesis: phenotypes converging on the CDP-ethanolamine pathway. Brain : a Journal of Neurology. PMID 33230519 DOI: 10.1093/brain/awaa389  1
2020 Chen Z, Maroofian R, Başak AN, Shingavi L, Karakaya M, Efthymiou S, Gustavsson EK, Meier L, Polavarapu K, Vengalil S, Preethish-Kumar V, Nandeesh BN, Gökçe Güneş N, Akan O, Candan F, ... ... Zuchner S, et al. Novel variants broaden the phenotypic spectrum of PLEKHG5-associated neuropathies. European Journal of Neurology. PMID 33220101 DOI: 10.1111/ene.14649  1
2020 Mendoza-Ferreira N, Karakaya M, Cengiz N, Beijer D, Brigatti KW, Gonzaga-Jauregui C, Fuhrmann N, Hölker I, Thelen MP, Zetzsche S, Rombo R, Puffenberger EG, De Jonghe P, Deconinck T, Zuchner S, et al. De Novo and Inherited Variants in GBF1 are Associated with Axonal Neuropathy Caused by Golgi Fragmentation. American Journal of Human Genetics. PMID 32937143 DOI: 10.1016/J.Ajhg.2020.08.018  1
2020 Fazal S, Danzi MC, Cintra VP, Bis-Brewer DM, Dolzhenko E, Eberle MA, Zuchner S. Large scale in silico characterization of repeat expansion variation in human genomes. Scientific Data. 7: 294. PMID 32901039 DOI: 10.1038/S41597-020-00633-9  1
2020 Motley WW, Züchner S, Scherer SS. Isoform-specific loss of dystonin causes hereditary motor and sensory neuropathy. Neurology. Genetics. 6: e496. PMID 32802955 DOI: 10.1212/Nxg.0000000000000496  1
2020 Šafka Brožková D, Stojkovic T, Haberlová J, Mazanec R, Windhager R, Fernandes Rosenegger P, Hacker S, Züchner S, Kochański A, Leonard-Louis S, Francou B, Latour P, Senderek J, Seeman P, Auer-Grumbach M. Demyelinating Charcot Marie Tooth neuropathy associated with FBLN5 mutations. European Journal of Neurology. PMID 32757322 DOI: 10.1111/Ene.14463  1
2020 Bis-Brewer DM, Gan-Or Z, Sleiman P, Hakonarson H, Fazal S, Courel S, Cintra V, Tao F, Estiar MA, Tarnopolsky M, Boycott KM, Yoon G, Suchowersky O, Dupré N, et al. Assessing non-Mendelian inheritance in inherited axonopathies. Genetics in Medicine : Official Journal of the American College of Medical Genetics. PMID 32741968 DOI: 10.1038/S41436-020-0924-0  1
2020 Cortese A, Zhu Y, Rebelo AP, Negri S, Courel S, Abreu L, Bacon CJ, Bai Y, Bis-Brewer DM, Bugiardini E, Buglo E, Danzi MC, Feely SME, Athanasiou-Fragkouli A, Haridy NA, ... ... Zuchner S, et al. Author Correction: Biallelic mutations in SORD cause a common and potentially treatable hereditary neuropathy with implications for diabetes. Nature Genetics. PMID 32457452 DOI: 10.1038/S41588-020-0649-7  1
2020 Oktay Y, Güngör S, Zeltner L, Wiethoff S, Schöls L, Sonmezler E, Yilmaz E, Munro B, Bender B, Kernstock C, Kaemereit S, Liepelt I, Töpf A, Yis U, Laurie S, ... ... Zuchner S, et al. Confirmation of TACO1 as a Leigh Syndrome Disease Gene in Two Additional Families. Journal of Neuromuscular Diseases. 7: 301-308. PMID 32444556 DOI: 10.3233/Jnd-200510  1
2020 Cortese A, Zhu Y, Rebelo AP, Negri S, Courel S, Abreu L, Bacon CJ, Bai Y, Bis-Brewer DM, Bugiardini E, Buglo E, Danzi MC, Feely SME, Athanasiou-Fragkouli A, Haridy NA, ... ... Zuchner S, et al. Biallelic mutations in SORD cause a common and potentially treatable hereditary neuropathy with implications for diabetes. Nature Genetics. PMID 32367058 DOI: 10.1038/S41588-020-0615-4  1
2020 Stanek D, Bis-Brewer DM, Saghira C, Danzi MC, Seeman P, Lassuthova P, Zuchner S. Prot2HG: a database of protein domains mapped to the human genome. Database : the Journal of Biological Databases and Curation. 2020. PMID 32293014 DOI: 10.1093/Database/Baz161  1
2020 Buglo E, Sarmiento E, Martuscelli NB, Sant DW, Danzi MC, Abrams AJ, Dallman JE, Züchner S. Genetic compensation in a stable slc25a46 mutant zebrafish: A case for using F0 CRISPR mutagenesis to study phenotypes caused by inherited disease. Plos One. 15: e0230566. PMID 32208444 DOI: 10.1371/Journal.Pone.0230566  1
2020 Fridman V, Sillau S, Acsadi G, Bacon C, Dooley K, Burns J, Day J, Feely S, Finkel RS, Grider T, Gutmann L, Herrmann DN, Kirk CA, Knause SA, Laurá M, et al. A longitudinal study of CMT1A using Rasch analysis based CMT neuropathy and examination scores. Neurology. PMID 32047073 DOI: 10.1212/Wnl.0000000000009035  1
2020 Harada Y, Zuchner SL, Herrmann DN, Veerapandiyan A. Clinical Reasoning: A case of bilateral foot drop in a 74-year-old man. Neurology. PMID 32041727 DOI: 10.1212/WNL.0000000000008760  0.01
2020 Cortese A, Tozza S, Yau WY, Rossi S, Beecroft SJ, Jaunmuktane Z, Dyer Z, Ravenscroft G, Lamont PJ, Mossman S, Chancellor A, Maisonobe T, Pereon Y, Cauquil C, Colnaghi S, et al. Cerebellar ataxia, neuropathy, vestibular areflexia syndrome due to RFC1 repeat expansion. Brain : a Journal of Neurology. 143: 480-490. PMID 32040566 DOI: 10.1093/Brain/Awz418  1
2019 Farhan SMK, Howrigan DP, Abbott LE, Klim JR, Topp SD, Byrnes AE, Churchhouse C, Phatnani H, Smith BN, Rampersaud E, Wu G, Wuu J, Shatunov A, Iacoangeli A, Khleifat AA, et al. Publisher Correction: Exome sequencing in amyotrophic lateral sclerosis implicates a novel gene, DNAJC7, encoding a heat-shock protein. Nature Neuroscience. PMID 31857710 DOI: 10.1038/S41593-019-0570-5  1
2019 Farhan SMK, Howrigan DP, Abbott LE, Klim JR, Topp SD, Byrnes AE, Churchhouse C, Phatnani H, Smith BN, Rampersaud E, Wu G, Wuu J, Shatunov A, Iacoangeli A, Al Khleifat A, et al. Exome sequencing in amyotrophic lateral sclerosis implicates a novel gene, DNAJC7, encoding a heat-shock protein. Nature Neuroscience. PMID 31768050 DOI: 10.1038/S41593-019-0530-0  1
2019 Manganelli F, Parisi S, Nolano M, Miceli F, Tozza S, Pisciotta C, Iodice R, Provitera V, Cicatiello R, Zuchner S, Taglialatela M, Russo T, Santoro L. Insights into the pathogenesis of ATP1A1-related CMT disease using patient-specific iPSCs. Journal of the Peripheral Nervous System : Jpns. PMID 31707753 DOI: 10.1111/Jns.12357  1
2019 Stregapede F, Travaglini L, Rebelo AP, Cintra VP, Bellacchio E, Bosco L, Alfieri P, Pro S, Zuchner S, Bertini E, Nicita F. Hereditary spastic paraplegia is a novel phenotype for germline de novo ATP1A1 mutation. Clinical Genetics. PMID 31705535 DOI: 10.1111/Cge.13668  1
2019 Wagner M, Osborn DPS, Gehweiler I, Nagel M, Ulmer U, Bakhtiari S, Amouri R, Boostani R, Hentati F, Hockley MM, Hölbling B, Schwarzmayr T, Karimiani EG, Kernstock C, Maroofian R, ... ... Zuchner S, et al. Bi-allelic variants in RNF170 are associated with hereditary spastic paraplegia. Nature Communications. 10: 4790. PMID 31636353 DOI: 10.1038/S41467-019-12620-9  1
2019 Bis-Brewer DM, Fazal S, Züchner S. Genetic Modifiers and Non-Mendelian Aspects of CMT. Brain Research. 146459. PMID 31525351 DOI: 10.1016/J.Brainres.2019.146459  1
2019 Farazi Fard MA, Rebelo AP, Buglo E, Nemati H, Dastsooz H, Gehweiler I, Reich S, Reichbauer J, Quintáns B, Ordóñez-Ugalde A, Cortese A, Courel S, Abreu L, Powell E, Danzi MC, ... ... Zuchner S, et al. Truncating Mutations in UBAP1 Cause Hereditary Spastic Paraplegia. American Journal of Human Genetics. 104: 1251. PMID 31173719 DOI: 10.1016/j.ajhg.2019.05.009  1
2019 Rattay TW, Lindig T, Baets J, Smets K, Deconinck T, Söhn AS, Hörtnagel K, Eckstein KN, Wiethoff S, Reichbauer J, Döbler-Neumann M, Krägeloh-Mann I, Auer-Grumbach M, Plecko B, Münchau A, et al. FAHN/SPG35: a narrow phenotypic spectrum across disease classifications. Brain : a Journal of Neurology. 142: 1561-1572. PMID 31135052 DOI: 10.1093/Brain/Awz102  1
2019 Horga A, Bugiardini E, Manole A, Bremner F, Jaunmuktane Z, Dankwa L, Rebelo AP, Woodward CE, Hargreaves IP, Cortese A, Pittman AM, Brandner S, Polke JM, Pitceathly RDS, Züchner S, et al. Autosomal dominant optic atrophy and cataract "plus" phenotype including axonal neuropathy. Neurology. Genetics. 5: e322. PMID 31119193 DOI: 10.1212/Nxg.0000000000000322  1
2019 Smith GA, Lin TH, Sheehan AE, Van der Goes van Naters W, Neukomm LJ, Graves HK, Bis-Brewer DM, Züchner S, Freeman MR. Glutathione S-Transferase Regulates Mitochondrial Populations in Axons through Increased Glutathione Oxidation. Neuron. PMID 31101394 DOI: 10.1016/J.Neuron.2019.04.017  1
2019 Tao F, Beecham GW, Rebelo AP, Blanton SH, Moran JJ, Lopez-Anido C, Svaren J, Abreu L, Rizzo D, Kirk CA, Wu X, Feely S, Verhamme C, Saporta MA, Herrmann DN, et al. Modifier Gene Candidates in Charcot-Marie-Tooth Disease Type 1A: A Case-Only Genome-Wide Association Study. Journal of Neuromuscular Diseases. PMID 30958311 DOI: 10.3233/Jnd-190377  1
2019 Farazi Fard MA, Rebelo AP, Buglo E, Nemati H, Dastsooz H, Gehweiler I, Reich S, Reichbauer J, Quintáns B, Ordóñez-Ugalde A, Cortese A, Courel S, Abreu L, Powell E, Danzi M, ... ... Zuchner S, et al. Truncating Mutations in UBAP1 Cause Hereditary Spastic Paraplegia. American Journal of Human Genetics. PMID 30929741 DOI: 10.1016/J.Ajhg.2019.03.001  1
2019 Cortese A, Simone R, Sullivan R, Vandrovcova J, Tariq H, Yan YW, Humphrey J, Jaunmuktane Z, Sivakumar P, Polke J, Ilyas M, Tribollet E, Tomaselli PJ, Devigili G, Callegari I, et al. Biallelic expansion of an intronic repeat in RFC1 is a common cause of late-onset ataxia. Nature Genetics. 51: 649-658. PMID 30926972 DOI: 10.1038/S41588-019-0372-4  1
2019 Phillips J, Courel S, Rebelo AP, Bis-Brewer DM, Bardakjian T, Dankwa L, Hamedani AG, Züchner S, Scherer SS. POLG mutations presenting as CMT. Journal of the Peripheral Nervous System : Jpns. PMID 30843307 DOI: 10.1111/Jns.12313  1
2019 Tao F, Beecham GW, Rebelo AP, Blanton SH, Moran JJ, Lopez-Anido C, Svaren J, Morrow JM, Abreu L, Rizzo D, Kirk CA, Wu X, Feely S, Verhamme C, Saporta MA, et al. Variation in SIPA1L2 is Correlated with Phenotype Modification in CMT Type 1A. Annals of Neurology. PMID 30706531 DOI: 10.1002/Ana.25426  1
2018 Tao F, Züchner S. Replication studies of MIR149 association in Charcot-Marie-Tooth disease type 1A in a European population. Neuromuscular Disorders : Nmd. PMID 30683433 DOI: 10.1016/J.Nmd.2018.12.012  1
2018 Dankwa L, Richardson J, Motley WW, Scavina M, Courel S, Bardakjian T, Züchner S, Scherer SS. A novel MFN2 mutation causes variable clinical severity in a multi-generational CMT2 family. Neuromuscular Disorders : Nmd. PMID 30642740 DOI: 10.1016/J.Nmd.2018.12.008  1
2018 Meister-Broekema M, Freilich R, Jagadeesan C, Rauch JN, Bengoechea R, Motley WW, Kuiper EFE, Minoia M, Furtado GV, van Waarde MAWH, Bird SJ, Rebelo A, Zuchner S, Pytel P, Scherer SS, et al. Myopathy associated BAG3 mutations lead to protein aggregation by stalling Hsp70 networks. Nature Communications. 9: 5342. PMID 30559338 DOI: 10.1038/S41467-018-07718-5  1
2018 Montes-Chinea NI, Guan Z, Coutts M, Vidal C, Courel S, Rebelo AP, Abreu L, Zuchner S, Littleton JT, Saporta MA. Identification of a new SYT2 variant validates an unusual distal motor neuropathy phenotype. Neurology. Genetics. 4: e282. PMID 30533528 DOI: 10.1212/Nxg.0000000000000282  1
2018 Abrams AJ, Fontanesi F, Tan NB, Buglo E, Campeanu IJ, Kornberg AJ, Phelan DG, Stark Z, Zuchner S. Insights into the genotype-phenotype correlation and molecular function of SLC25A46. Human Mutation. PMID 30178502 DOI: 10.1002/Humu.23639  1
2018 Capel E, Vatier C, Cervera P, Stojkovic T, Disse E, Cottereau AS, Auclair M, Verpont MC, Mosbah H, Gourdy P, Barraud S, Miquel A, Züchner S, Lascols O, et al. MFN2-associated lipomatosis: Clinical spectrum and impact on adipose tissue. Journal of Clinical Lipidology. PMID 30158064 DOI: 10.1016/J.Jacl.2018.07.009  0.01
2018 Howell RR, Zuchner S. MOVR-NeuroMuscular ObserVational Research, a unified data hub for neuromuscular diseases. Genetics in Medicine : Official Journal of the American College of Medical Genetics. PMID 29934516 DOI: 10.1038/S41436-018-0086-5  0.01
2018 Kanhangad M, Cornett K, Brewer MH, Nicholson GA, Ryan MM, Smith RL, Subramanian GM, Young HK, Züchner S, Kennerson ML, Burns J, Menezes MP. Unique clinical and neurophysiologic profile of a cohort of children with CMTX3. Neurology. PMID 29626178 DOI: 10.1212/Wnl.0000000000005479  1
2018 Bedell V, Buglo E, Marcato D, Pylatiuk C, Mikut R, Stegmaier J, Scudder W, Wray M, Züchner S, Strähle U, Peravali R, Dallman JE. Zebrafish: A Pharmacogenetic Model for Anesthesia. Methods in Enzymology. 602: 189-209. PMID 29588029 DOI: 10.1016/Bs.Mie.2018.02.004  1
2018 Pottier C, Rampersaud E, Baker M, Wu G, Wuu J, McCauley JL, Zuchner S, Schule R, Bermudez C, Hussain S, Cooley A, Wallace M, Zhang J, Taylor JP, Benatar M, et al. Identification of compound heterozygous variants in OPTN in an ALS-FTD patient from the CReATe consortium: a case report. Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration. 1-3. PMID 29558868 DOI: 10.1080/21678421.2018.1452947  1
2018 Lassuthova P, Rebelo AP, Ravenscroft G, Lamont PJ, Davis MR, Manganelli F, Feely SM, Bacon C, Brožková DŠ, Haberlova J, Mazanec R, Tao F, Saghira C, Abreu L, Courel S, ... ... Zuchner S, et al. Mutations in ATP1A1 Cause Dominant Charcot-Marie-Tooth Type 2. American Journal of Human Genetics. 102: 505-514. PMID 29499166 DOI: 10.1016/J.Ajhg.2018.01.023  1
2018 Rebelo A, Dimah S, Pereira C, Farooq A, Huff T, Abreu L, Moraes C, Mnatsakanova D, Mathews K, Yang H, Schon E, Zuchner S, Shy M. Erratum: SCO2 mutations cause early-onset axonal Charcot-Marie-Tooth disease associated with cellular copper deficiency (Brain (2018) 141 (662-672) DOI: 10.1093/brain/awx369) Brain. 141. PMID 29471376 DOI: 10.1093/Brain/Awy032  1
2018 Mendoza-Ferreira N, Coutelier M, Janzen E, Hosseinibarkooie S, Löhr H, Schneider S, Milbradt J, Karakaya M, Riessland M, Pichlo C, Torres-Benito L, Singleton A, Zuchner S, Brice A, Durr A, et al. Biallelic CHP1 mutation causes human autosomal recessive ataxia by impairing NHE1 function. Neurology. Genetics. 4: e209. PMID 29379881 DOI: 10.1212/Nxg.0000000000000209  1
2017 Abbott JA, Meyer-Schuman R, Lupo V, Feely S, Mademan I, Oprescu SN, Griffin LB, Alberti MA, Casasnovas C, Aharoni S, Basel-Vanagaite L, Züchner S, De Jonghe P, Baets J, Shy ME, et al. Substrate interaction defects in histidyl-tRNA synthetase linked to dominant axonal peripheral neuropathy. Human Mutation. PMID 29235198 DOI: 10.1002/Humu.23380  1
2017 Mackenzie IR, Nicholson AM, Sarkar M, Messing J, Purice MD, Pottier C, Annu K, Baker M, Perkerson RB, Kurti A, Matchett BJ, Mittag T, Temirov J, Hsiung GR, Krieger C, et al. TIA1 Mutations in Amyotrophic Lateral Sclerosis and Frontotemporal Dementia Promote Phase Separation and Alter Stress Granule Dynamics. Neuron. 95: 808-816.e9. PMID 28817800 DOI: 10.1016/J.Neuron.2017.07.025  1
2017 Shy M, Rebelo AP, Feely SM, Abreu LA, Tao F, Swenson A, Bacon C, Zuchner S. Mutations in BAG3 cause adult-onset Charcot-Marie-Tooth disease. Journal of Neurology, Neurosurgery, and Psychiatry. PMID 28754666 DOI: 10.1136/Jnnp-2017-315929  1
2017 Manganelli F, Parisi S, Nolano M, Tao F, Paladino S, Pisciotta C, Tozza S, Nesti C, Rebelo AP, Provitera V, Santorelli FM, Shy ME, Russo T, Zuchner S, Santoro L. Novel mutations in dystonin provide clues to the pathomechanisms of HSAN-VI. Neurology. PMID 28468842 DOI: 10.1212/Wnl.0000000000003992  1
2017 Minnerop M, Kurzwelly D, Wagner H, Soehn AS, Reichbauer J, Tao F, Rattay TW, Peitz M, Rehbach K, Giorgetti A, Pyle A, Thiele H, Altmüller J, Timmann D, Karaca I, ... ... Zuchner S, et al. Hypomorphic mutations in POLR3A are a frequent cause of sporadic and recessive spastic ataxia. Brain : a Journal of Neurology. PMID 28459997 DOI: 10.1093/Brain/Awx095  1
2017 Ozes B, Karagoz N, Schüle R, Rebelo A, Sobrido MJ, Harmuth F, Synofzik M, Pascual SI, Colak M, Ciftci-Kavaklioglu B, Kara B, Ordóñez-Ugalde A, Quintáns B, Gonzalez MA, Soysal A, ... Zuchner S, et al. Pla2g6 mutations associated with a continuous clinical spectrum from neuroaxonal dystrophy to hereditary spastic paraplegia. Clinical Genetics. PMID 28295203 DOI: 10.1111/Cge.13008  1
2017 Hayer SN, Deconinck T, Bender B, Smets K, Züchner S, Reich S, Schöls L, Schüle R, De Jonghe P, Baets J, Synofzik M. STUB1/CHIP mutations cause Gordon Holmes syndrome as part of a widespread multisystemic neurodegeneration: evidence from four novel mutations. Orphanet Journal of Rare Diseases. 12: 31. PMID 28193273 DOI: 10.1186/S13023-017-0580-X  1
2017 Estrada-Cuzcano A, Martin S, Chamova T, Synofzik M, Timmann D, Holemans T, Andreeva A, Reichbauer J, De Rycke R, Chang DI, van Veen S, Samuel J, Schöls L, Pöppel T, Mollerup Sørensen D, ... ... Zuchner S, et al. Loss-of-function mutations in the ATP13A2/PARK9 gene cause complicated hereditary spastic paraplegia (SPG78). Brain : a Journal of Neurology. 140: 287-305. PMID 28137957 DOI: 10.1093/brain/aww307  1
2017 Rossor AM, Rebelo A, Horga A, Tomaselli PJ, Gonzalez M, Zuchner S, Reilly MM. A Homozygous Reticulon 2 mutation is a cause of DHMN with pyramidal signs Neuromuscular Disorders. 27. DOI: 10.1016/S0960-8966(17)30289-4  1
2017 Chamova T, Estrada-Cuzcano A, Martin S, Holemans T, Andreeva A, Rycke RD, Chang DI, Veen Sv, Samuel J, Sørensen DM, Asselbergh B, Zuchner S, Jordanova A, Vangheluwe P, Tournev I. Novel form of complicated hereditary spastic paraplegia (SPG78), due to mutations in the ATP13A2/PARK9 gene Journal of the Neurological Sciences. 381: 379-380. DOI: 10.1016/J.Jns.2017.08.3286  1
2016 Jahic A, Hinreiner S, Emberger W, Hehr U, Zuchner S, Beetz C. Doublet-Mediated DNA Rearrangement - A Novel and Potentially Underestimated Mechanism for the Formation of Recurrent Pathogenic Deletions. Human Mutation. PMID 28008689 DOI: 10.1002/humu.23162  0.01
2016 Köhler S, Vasilevsky NA, Engelstad M, Foster E, McMurry J, Aymé S, Baynam G, Bello SM, Boerkoel CF, Boycott KM, Brudno M, Buske OJ, Chinnery PF, Cipriani V, Connell LE, et al. The Human Phenotype Ontology in 2017. Nucleic Acids Research. PMID 27899602 DOI: 10.1093/Nar/Gkw1039  0.01
2016 Isasi R, Zuchner SL, Villafranca RC. Community genetics: Genetics boosts US-Cuban links. Nature. 539: 357. PMID 27853218 DOI: 10.1038/539357d  0.01
2016 Vallat JM, Nizon M, Magee A, Isidor B, Magy L, Péréon Y, Richard L, Ouvrier R, Cogné B, Devaux J, Zuchner S, Mathis S. Contactin-Associated Protein 1 (CNTNAP1) Mutations Induce Characteristic Lesions of the Paranodal Region. Journal of Neuropathology and Experimental Neurology. PMID 27818385 DOI: 10.1093/jnen/nlw093  0.01
2016 Pottier C, Ravenscroft TA, Brown PH, Finch NA, Baker M, Parsons M, Asmann YW, Ren Y, Christopher E, Levitch D, van Blitterswijk M, Cruchaga C, Campion D, Nicolas G, Richard AC, ... ... Zuchner S, et al. TYROBP genetic variants in early-onset Alzheimer's disease. Neurobiology of Aging. PMID 27658901 DOI: 10.1016/J.Neurobiolaging.2016.07.028  1
2016 Hu B, Arpag S, Zuchner S, Li J. A Novel Missense Mutation of CMT2P Alters Transcription Machinery. Annals of Neurology. PMID 27615052 DOI: 10.1002/ana.24776  0.01
2016 Hirst J, Madeo M, Smets K, Edgar JR, Schols L, Li J, Yarrow A, Deconinck T, Baets J, Van Aken E, De Bleecker J, Datiles MB, Roda RH, Liepert J, Züchner S, et al. Complicated spastic paraplegia in patients with AP5Z1 mutations (SPG48). Neurology. Genetics. 2: e98. PMID 27606357 DOI: 10.1212/Nxg.0000000000000098  1
2016 Brewer MH, Chaudhry R, Qi J, Kidambi A, Drew AP, Menezes MP, Ryan MM, Farrar MA, Mowat D, Subramanian GM, Young HK, Zuchner S, Reddel SW, Nicholson GA, Kennerson ML. Whole Genome Sequencing Identifies a 78 kb Insertion from Chromosome 8 as the Cause of Charcot-Marie-Tooth Neuropathy CMTX3. Plos Genetics. 12: e1006177. PMID 27438001 DOI: 10.1371/journal.pgen.1006177  1
2016 Soehn AS, Rattay TW, Beck-Wödl S, Schäferhoff K, Monk D, Döbler-Neumann M, Hörtnagel K, Schlüter A, Ruiz M, Pujol A, Züchner S, Riess O, Schüle R, Bauer P, Schöls L. Uniparental disomy of chromosome 16 unmasks recessive mutations of FA2H/SPG35 in 4 families. Neurology. PMID 27316240 DOI: 10.1212/Wnl.0000000000002843  1
2016 Mademan I, Harmuth F, Giordano I, Timmann D, Magri S, Deconinck T, Claaßen J, Jokisch D, Genc G, Di Bella D, Romito S, Schüle R, Züchner S, Taroni F, Klockgether T, et al. Multisystemic SYNE1 ataxia: confirming the high frequency and extending the mutational and phenotypic spectrum. Brain : a Journal of Neurology. PMID 27197992 DOI: 10.1093/Brain/Aww115  1
2016 Rebelo AP, Abrams AJ, Cottenie E, Horga A, Gonzalez M, Bis DM, Sanchez-Mejias A, Pinto M, Buglo E, Markel K, Prince J, Laura M, Houlden H, Blake J, Woodward C, ... ... Zuchner S, et al. Cryptic Amyloidogenic Elements in the 3' UTRs of Neurofilament Genes Trigger Axonal Neuropathy. American Journal of Human Genetics. PMID 27040688 DOI: 10.1016/J.Ajhg.2016.02.022  1
2016 Denora PS, Smets K, Zolfanelli F, Ceuterick-de Groote C, Casali C, Deconinck T, Sieben A, Gonzales M, Zuchner S, Darios F, Peeters D, Brice A, Malandrini A, De Jonghe P, Santorelli FM, et al. Motor neuron degeneration in spastic paraplegia 11 mimics amyotrophic lateral sclerosis lesions. Brain : a Journal of Neurology. PMID 27016404 DOI: 10.1093/Brain/Aww061  1
2016 Motley WW, Palaima P, Yum SW, Gonzalez MA, Tao F, Wanschitz JV, Strickland AV, Löscher WN, De Vriendt E, Koppi S, Medne L, Janecke AR, Jordanova A, Zuchner S, Scherer SS. De novo PMP2 mutations in families with type 1 Charcot-Marie-Tooth disease. Brain : a Journal of Neurology. PMID 27009151 DOI: 10.1093/Brain/Aww055  1
2016 Shen L, Diroma MA, Gonzalez M, Navarro-Gomez D, Leipzig J, Lott MT, van Oven M, Wallace DC, Muraresku CC, Zolkipli-Cunningham Z, Chinnery PF, Attimonelli M, Zuchner S, Falk MJ, Gai X. MSeqDR: A Centralized Knowledge Repository and Bioinformatics Web Resource to Facilitate Genomic Investigations in Mitochondrial Disease. Human Mutation. PMID 26919060 DOI: 10.1002/Humu.22974  1
2016 Laššuthová P, Šafka Brožková D, Krůtová M, Mazanec R, Züchner S, Gonzalez MA, Seeman P. Severe axonal Charcot-Marie-Tooth disease with proximal weakness caused by de novo mutation in the MORC2 gene. Brain : a Journal of Neurology. PMID 26912637 DOI: 10.1093/Brain/Awv411  1
2016 Auer-Grumbach M, Bennett DLH, Andersen P, Harms MB, Reilly MM, Weishaupt J, Strom TM, Walther T, Scherer SS, Zuchner S, Martini R, Senderek J. Rare Coding Variants In The Mme Gene, Encoding The Metalloprotease Neprilysin, Are Linked To Late-Onset Axonal Neuropathies Journal of the Peripheral Nervous System. 21: 235-235. DOI: 10.1111/Jns.12181  1
2015 Albulym OM, Kennerson ML, Harms MB, Drew AP, Siddell AH, Auer-Grumbach M, Pestronk A, Connolly A, Baloh RH, Zuchner S, Reddel SW, Nicholson GA. MORC2 mutations cause axonal Charcot-Marie-Tooth disease with pyramidal signs. Annals of Neurology. PMID 26659848 DOI: 10.1002/Ana.24575  1
2015 Schmidt WM, Rutledge SL, Schüle R, Mayerhofer B, Züchner S, Boltshauser E, Bittner RE. Disruptive SCYL1 Mutations Underlie a Syndrome Characterized by Recurrent Episodes of Liver Failure, Peripheral Neuropathy, Cerebellar Atrophy, and Ataxia. American Journal of Human Genetics. PMID 26581903 DOI: 10.1016/J.Ajhg.2015.10.011  1
2015 Whittaker RG, Herrmann DN, Bansagi B, Hasan BA, Lofra RM, Logigian EL, Sowden JE, Almodovar JL, Littleton JT, Zuchner S, Horvath R, Lochmüller H. Electrophysiologic features of SYT2 mutations causing a treatable neuromuscular syndrome. Neurology. PMID 26519543 DOI: 10.1212/WNL.0000000000002185  1
2015 Thal DR, Züchner S, Gierer S, Schulte C, Schöls L, Schüle R, Synofzik M. Abnormal Paraplegin Expression in Swollen Neurites, τ- and α-Synuclein Pathology in a Case of Hereditary Spastic Paraplegia SPG7 with an Ala510Val Mutation. International Journal of Molecular Sciences. 16: 25050-66. PMID 26506339 DOI: 10.3390/Ijms161025050  1
2015 Brennan KM, Bai Y, Pisciotta C, Wang S, Feely SM, Hoegger M, Gutmann L, Moore SA, Gonzalez M, Sherman DL, Brophy PJ, Züchner S, Shy ME. Absence of Dystrophin Related Protein-2 disrupts Cajal bands in a patient with Charcot-Marie-Tooth disease. Neuromuscular Disorders : Nmd. PMID 26227883 DOI: 10.1016/J.Nmd.2015.07.001  1
2015 Gonzalez M, Falk MJ, Gai X, Postrel R, Schüle R, Zuchner S. Innovative Genomic Collaboration Using the GENESIS (GEM.app) Platform. Human Mutation. 36: 950-6. PMID 26173844 DOI: 10.1002/humu.22836  1
2015 Abrams AJ, Hufnagel RB, Rebelo A, Zanna C, Patel N, Gonzalez MA, Campeanu IJ, Griffin LB, Groenewald S, Strickland AV, Tao F, Speziani F, Abreu L, Schüle R, Caporali L, ... ... Zuchner S, et al. Mutations in SLC25A46, encoding a UGO1-like protein, cause an optic atrophy spectrum disorder. Nature Genetics. 47: 926-32. PMID 26168012 DOI: 10.1038/Ng.3354  1
2015 Boora GK, Kulkarni AA, Kanwar R, Beyerlein P, Qin R, Banck MS, Ruddy KJ, Pleticha J, Lynch CA, Behrens RJ, Züchner S, Loprinzi CL, Beutler AS. Association of the Charcot-Marie-Tooth disease gene ARHGEF10 with paclitaxel induced peripheral neuropathy in NCCTG N08CA (Alliance). Journal of the Neurological Sciences. PMID 26143528 DOI: 10.1016/J.Jns.2015.06.056  1
2015 Pisciotta C, Bai Y, Brennan KM, Wu X, Grider T, Feely S, Wang S, Moore S, Siskind C, Gonzalez M, Zuchner S, Shy ME. Reduced neurofilament expression in cutaneous nerve fibers of patients with CMT2E. Neurology. PMID 26109717 DOI: 10.1212/Wnl.0000000000001773  1
2015 Safka Brozkova D, Deconinck T, Beth Griffin L, Ferbert A, Haberlova J, Mazanec R, Lassuthova P, Roth C, Pilunthanakul T, Rautenstrauss B, Janecke AR, Zavadakova P, Chrast R, Rivolta C, Zuchner S, et al. Loss of function mutations in HARS cause a spectrum of inherited peripheral neuropathies. Brain : a Journal of Neurology. 138: 2161-72. PMID 26072516 DOI: 10.1093/Brain/Awv158  1
2015 Coutelier M, Goizet C, Durr A, Habarou F, Morais S, Dionne-Laporte A, Tao F, Konop J, Stoll M, Charles P, Jacoupy M, Matusiak R, Alonso I, Tallaksen C, Mairey M, ... ... Zuchner S, et al. Alteration of ornithine metabolism leads to dominant and recessive hereditary spastic paraplegia. Brain : a Journal of Neurology. PMID 26026163 DOI: 10.1093/Brain/Awv143  1
2015 Jerath NU, Crockett CD, Moore SA, Shy ME, Weihl CC, Chou TF, Grider T, Gonzalez MA, Zuchner S, Swenson A. Rare Manifestation of a c.290 C>T, p.Gly97Glu VCP Mutation. Case Reports in Genetics. 2015: 239167. PMID 25878907 DOI: 10.1155/2015/239167  1
2015 Tétreault M, Gonzalez M, Dicaire MJ, Allard P, Gehring K, Leblanc D, Leclerc N, Schondorf R, Mathieu J, Zuchner S, Brais B. Adult-onset painful axonal polyneuropathy caused by a dominant NAGLU mutation. Brain : a Journal of Neurology. 138: 1477-83. PMID 25818867 DOI: 10.1093/Brain/Awv074  1
2015 Falk MJ, Shen L, Gonzalez M, Leipzig J, Lott MT, Stassen AP, Diroma MA, Navarro-Gomez D, Yeske P, Bai R, Boles RG, Brilhante V, Ralph D, DaRe JT, Shelton R, ... ... Zuchner S, et al. Mitochondrial Disease Sequence Data Resource (MSeqDR): a global grass-roots consortium to facilitate deposition, curation, annotation, and integrated analysis of genomic data for the mitochondrial disease clinical and research communities. Molecular Genetics and Metabolism. 114: 388-96. PMID 25542617 DOI: 10.1016/J.Ymgme.2014.11.016  1
2015 Rossor AM, Oates EC, Salter HK, Liu Y, Murphy SM, Schule R, Gonzalez MA, Scoto M, Phadke R, Sewry CA, Houlden H, Jordanova A, Tournev I, Chamova T, Litvinenko I, ... Zuchner S, et al. Phenotypic and molecular insights into spinal muscular atrophy due to mutations in BICD2. Brain : a Journal of Neurology. 138: 293-310. PMID 25497877 DOI: 10.1093/Brain/Awu356  1
2015 Fridman V, Bundy B, Reilly MM, Pareyson D, Bacon C, Burns J, Day J, Feely S, Finkel RS, Grider T, Kirk CA, Herrmann DN, Laurá M, Li J, Lloyd T, ... ... Zuchner S, et al. CMT subtypes and disease burden in patients enrolled in the Inherited Neuropathies Consortium natural history study: a cross-sectional analysis. Journal of Neurology, Neurosurgery, and Psychiatry. 86: 873-8. PMID 25430934 DOI: 10.1136/Jnnp-2014-308826  1
2015 Zimoń M, Battaloğlu E, Parman Y, Erdem S, Baets J, De Vriendt E, Atkinson D, Almeida-Souza L, Deconinck T, Ozes B, Goossens D, Cirak S, Van Damme P, Shboul M, Voit T, et al. Unraveling the genetic landscape of autosomal recessive Charcot-Marie-Tooth neuropathies using a homozygosity mapping approach. Neurogenetics. 16: 33-42. PMID 25231362 DOI: 10.1007/S10048-014-0422-0  1
2015 Synofzik M, Haack TB, Kopajtich R, Gorza M, Rapaport D, Greiner M, Schönfeld C, Freiberg C, Schorr S, Holl RW, Gonzalez MA, Fritsche A, Fallier-Becker P, Zimmermann R, Strom TM, et al. Absence of BiP Co-chaperone DNAJC3 causes diabetes mellitus and multisystemic neurodegeneration (The American Journal of Human Genetics (2014) 96 (689-697)) American Journal of Human Genetics. 96: 514. DOI: 10.1016/J.Ajhg.2015.02.003  1
2014 Synofzik M, Haack TB, Kopajtich R, Gorza M, Rapaport D, Greiner M, Schönfeld C, Freiberg C, Schorr S, Holl RW, Gonzalez MA, Fritsche A, Fallier-Becker P, Zimmermann R, Strom TM, et al. Absence of BiP co-chaperone DNAJC3 causes diabetes mellitus and multisystemic neurodegeneration. American Journal of Human Genetics. 95: 689-97. PMID 25466870 DOI: 10.1016/J.Ajhg.2014.10.013  1
2014 Cottenie E, Kochanski A, Jordanova A, Bansagi B, Zimon M, Horga A, Jaunmuktane Z, Saveri P, Rasic VM, Baets J, Bartsakoulia M, Ploski R, Teterycz P, Nikolic M, Quinlivan R, ... ... Zuchner S, et al. Truncating and missense mutations in IGHMBP2 cause Charcot-Marie Tooth disease type 2. American Journal of Human Genetics. 95: 590-601. PMID 25439726 DOI: 10.1016/J.Ajhg.2014.10.002  1
2014 Herrmann DN, Horvath R, Sowden JE, Gonzalez M, Gonzales M, Sanchez-Mejias A, Guan Z, Whittaker RG, Almodovar JL, Lane M, Bansagi B, Pyle A, Boczonadi V, Lochmüller H, Griffin H, ... ... Zuchner S, et al. Synaptotagmin 2 mutations cause an autosomal-dominant form of lambert-eaton myasthenic syndrome and nonprogressive motor neuropathy. American Journal of Human Genetics. 95: 332-9. PMID 25192047 DOI: 10.1016/j.ajhg.2014.08.007  1
2014 Gonzalez MA, Feely SM, Speziani F, Strickland AV, Danzi M, Bacon C, Lee Y, Chou TF, Blanton SH, Weihl CC, Zuchner S, Shy ME. A novel mutation in VCP causes Charcot-Marie-Tooth Type 2 disease. Brain : a Journal of Neurology. 137: 2897-902. PMID 25125609 DOI: 10.1093/brain/awu224  1
2014 Liu YT, Laurá M, Hersheson J, Horga A, Jaunmuktane Z, Brandner S, Pittman A, Hughes D, Polke JM, Sweeney MG, Proukakis C, Janssen JC, Auer-Grumbach M, Zuchner S, Shields KG, et al. Extended phenotypic spectrum of KIF5A mutations: From spastic paraplegia to axonal neuropathy. Neurology. 83: 612-9. PMID 25008398 DOI: 10.1212/Wnl.0000000000000691  1
2014 Bonifert T, Karle KN, Tonagel F, Batra M, Wilhelm C, Theurer Y, Schoenfeld C, Kluba T, Kamenisch Y, Carelli V, Wolf J, Gonzalez MA, Speziani F, Schüle R, Züchner S, et al. Pure and syndromic optic atrophy explained by deep intronic OPA1 mutations and an intralocus modifier. Brain : a Journal of Neurology. 137: 2164-77. PMID 24970096 DOI: 10.1093/Brain/Awu165  1
2014 Caballero Oteyza A, Battaloğlu E, Ocek L, Lindig T, Reichbauer J, Rebelo AP, Gonzalez MA, Zorlu Y, Ozes B, Timmann D, Bender B, Woehlke G, Züchner S, Schöls L, Schüle R. Motor protein mutations cause a new form of hereditary spastic paraplegia. Neurology. 82: 2007-16. PMID 24808017 DOI: 10.1212/Wnl.0000000000000479  1
2014 Timmerman V, Strickland AV, Züchner S. Genetics of Charcot-Marie-Tooth (CMT) Disease within the Frame of the Human Genome Project Success. Genes. 5: 13-32. PMID 24705285 DOI: 10.3390/Genes5010013  1
2014 Magariello A, Citrigno L, Zuchner S, Gonzalez M, Patitucci A, Sofia V, Conforti FL, Pappalardo I, Mazzei R, Ungaro C, Zappia M, Muglia M. Further evidence that DDHD2 gene mutations cause autosomal recessive hereditary spastic paraplegia with thin corpus callosum European Journal of Neurology. 21. PMID 24517879 DOI: 10.1111/Ene.12305  1
2014 Esteves T, Durr A, Mundwiller E, Loureiro JL, Boutry M, Gonzalez MA, Gauthier J, El-Hachimi KH, Depienne C, Muriel MP, Acosta Lebrigio RF, Gaussen M, Noreau A, Speziani F, Dionne-Laporte A, ... ... Zuchner S, et al. Loss of association of REEP2 with membranes leads to hereditary spastic paraplegia. American Journal of Human Genetics. 94: 268-77. PMID 24388663 DOI: 10.1016/J.Ajhg.2013.12.005  1
2014 Synofzik M, Gonzalez MA, Lourenco CM, Coutelier M, Haack TB, Rebelo A, Hannequin D, Strom TM, Prokisch H, Kernstock C, Durr A, Schöls L, Lima-Martínez MM, Farooq A, Schüle R, et al. PNPLA6 mutations cause Boucher-Neuhauser and Gordon Holmes syndromes as part of a broad neurodegenerative spectrum. Brain : a Journal of Neurology. 137: 69-77. PMID 24355708 DOI: 10.1093/Brain/Awt326  1
2014 Foley AR, Menezes MP, Pandraud A, Gonzalez MA, Al-Odaib A, Abrams AJ, Sugano K, Yonezawa A, Manzur AY, Burns J, Hughes I, McCullagh BG, Jungbluth H, Lim MJ, Lin JP, et al. Treatable childhood neuronopathy caused by mutations in riboflavin transporter RFVT2. Brain : a Journal of Neurology. 137: 44-56. PMID 24253200 DOI: 10.1093/Brain/Awt315  1
2014 Dolzhanskaya N, Gonzalez MA, Sperziani F, Stefl S, Messing J, Wen GY, Alexov E, Zuchner S, Velinov M. A novel p.Leu(381)Phe mutation in presenilin 1 is associated with very early onset and unusually fast progressing dementia as well as lysosomal inclusions typically seen in Kufs disease. Journal of Alzheimer's Disease : Jad. 39: 23-7. PMID 24121961 DOI: 10.3233/Jad-131340  1
2014 Carney RM, Kohli MA, Kunkle BW, Naj AC, Gilbert JR, Züchner S, Pericak-Vance MA. Parkinsonism and distinct dementia patterns in a family with the MAPT R406W mutation. Alzheimer's & Dementia : the Journal of the Alzheimer's Association. 10: 360-5. PMID 23727082 DOI: 10.1016/J.Jalz.2013.02.011  1
2014 Lourenco CM, Stevanin G, Zuchner S, Marques W. GM2 synthase deficiency: a novel complex glycosphingolipid disorder with neurological involvement Molecular Genetics and Metabolism. 111. DOI: 10.1016/J.Ymgme.2013.12.161  1
2014 Haberlova J, Safka-Brozkova D, Gonzales M, Zuchner S, Seeman P. G.P.37 Neuromuscular Disorders. 24: 805-806. DOI: 10.1016/J.Nmd.2014.06.051  1
2013 Murdock DG, Bradford Y, Schnetz-Boutaud N, Mayo P, Allen MJ, D'Aoust LN, Liang X, Mitchell SL, Zuchner S, Small GW, Gilbert JR, Pericak-Vance MA, Haines JL. KIAA1462, a coronary artery disease associated gene, is a candidate gene for late onset Alzheimer disease in APOE carriers. Plos One. 8: e82194. PMID 24349219 DOI: 10.1371/Journal.Pone.0082194  1
2013 Williams SL, Mash DC, Züchner S, Moraes CT. Somatic mtDNA mutation spectra in the aging human putamen. Plos Genetics. 9: e1003990. PMID 24339796 DOI: 10.1371/Journal.Pgen.1003990  1
2013 Sumner CJ, d'Ydewalle C, Wooley J, Fawcett KA, Hernandez D, Gardiner AR, Kalmar B, Baloh RH, Gonzalez M, Züchner S, Stanescu HC, Kleta R, Mankodi A, Cornblath DR, Boylan KB, et al. A dominant mutation in FBXO38 causes distal spinal muscular atrophy with calf predominance. American Journal of Human Genetics. 93: 976-83. PMID 24207122 DOI: 10.1016/J.Ajhg.2013.10.006  1
2013 Dickson KM, Gustafson CB, Young JI, Züchner S, Wang G. Ascorbate-induced generation of 5-hydroxymethylcytosine is unaffected by varying levels of iron and 2-oxoglutarate. Biochemical and Biophysical Research Communications. 439: 522-7. PMID 24021282 DOI: 10.1016/J.Bbrc.2013.09.010  1
2013 Ozomaro U, Cai G, Kajiwara Y, Yoon S, Makarov V, Delorme R, Betancur C, Ruhrmann S, Falkai P, Grabe HJ, Maier W, Wagner M, Lennertz L, Moessner R, Murphy DL, et al. Characterization of SLITRK1 variation in obsessive-compulsive disorder. Plos One. 8: e70376. PMID 23990902 DOI: 10.1371/Journal.Pone.0070376  1
2013 Landouré G, Zhu PP, Lourenço CM, Johnson JO, Toro C, Bricceno KV, Rinaldi C, Meilleur KG, Sangaré M, Diallo O, Pierson TM, Ishiura H, Tsuji S, Hein N, Fink JK, et al. Hereditary spastic paraplegia type 43 (SPG43) is caused by mutation in C19orf12. Human Mutation. 34: 1357-60. PMID 23857908 DOI: 10.1002/Humu.22378  1
2013 Nuytemans K, Bademci G, Kohli MM, Beecham GW, Wang L, Young JI, Nahab F, Martin ER, Gilbert JR, Benatar M, Haines JL, Scott WK, Züchner S, Pericak-Vance MA, Vance JM. C9ORF72 intermediate repeat copies are a significant risk factor for Parkinson disease. Annals of Human Genetics. 77: 351-63. PMID 23845100 DOI: 10.1111/Ahg.12033  1
2013 Boukhris A, Schule R, Loureiro JL, Lourenço CM, Mundwiller E, Gonzalez MA, Charles P, Gauthier J, Rekik I, Acosta Lebrigio RF, Gaussen M, Speziani F, Ferbert A, Feki I, Caballero-Oteyza A, ... ... Zuchner S, et al. Alteration of ganglioside biosynthesis responsible for complex hereditary spastic paraplegia. American Journal of Human Genetics. 93: 118-23. PMID 23746551 DOI: 10.1016/J.Ajhg.2013.05.006  1
2013 Guettouche T, Zuchner S. Improved coverage and accuracy with strand-conserving sequence enrichment. Genome Medicine. 5: 46. PMID 23731654 DOI: 10.1186/Gm450  0.01
2013 Oates EC, Rossor AM, Hafezparast M, Gonzalez M, Speziani F, MacArthur DG, Lek M, Cottenie E, Scoto M, Foley AR, Hurles M, Houlden H, Greensmith L, Auer-Grumbach M, Pieber TR, et al. Mutations in BICD2 cause dominant congenital spinal muscular atrophy and hereditary spastic paraplegia. American Journal of Human Genetics. 92: 965-73. PMID 23664120 DOI: 10.1016/J.Ajhg.2013.04.018  1
2013 Wang L, Nuytemans K, Bademci G, Jauregui C, Martin ER, Scott WK, Vance JM, Zuchner S. High-resolution survey in familial Parkinson disease genes reveals multiple independent copy number variation events in PARK2. Human Mutation. 34: 1071-4. PMID 23616242 DOI: 10.1002/Humu.22344  1
2013 Gonzalez M, Nampoothiri S, Kornblum C, Oteyza AC, Walter J, Konidari I, Hulme W, Speziani F, Schöls L, Züchner S, Schüle R. Mutations in phospholipase DDHD2 cause autosomal recessive hereditary spastic paraplegia (SPG54). European Journal of Human Genetics : Ejhg. 21: 1214-8. PMID 23486545 DOI: 10.1038/Ejhg.2013.29  1
2013 Varga RE, Schüle R, Fadel H, Valenzuela I, Speziani F, Gonzalez M, Rudenskaia G, Nürnberg G, Thiele H, Altmüller J, Alvarez V, Gamez J, Garbern JY, Nürnberg P, Zuchner S, et al. Do not trust the pedigree: reduced and sex-dependent penetrance at a novel mutation hotspot in ATL1 blurs autosomal dominant inheritance of spastic paraplegia. Human Mutation. 34: 860-3. PMID 23483706 DOI: 10.1002/Humu.22309  1
2013 Gonzalez MA, Lebrigio RF, Van Booven D, Ulloa RH, Powell E, Speziani F, Tekin M, Schüle R, Züchner S. GEnomes Management Application (GEM.app): a new software tool for large-scale collaborative genome analysis. Human Mutation. 34: 842-6. PMID 23463597 DOI: 10.1002/Humu.22305  1
2013 Norton N, Li D, Rampersaud E, Morales A, Martin ER, Zuchner S, Guo S, Gonzalez M, Hedges DJ, Robertson PD, Krumm N, Nickerson DA, Hershberger RE. Exome sequencing and genome-wide linkage analysis in 17 families illustrate the complex contribution of TTN truncating variants to dilated cardiomyopathy. Circulation. Cardiovascular Genetics. 6: 144-53. PMID 23418287 DOI: 10.1161/Circgenetics.111.000062  1
2013 Nuytemans K, Bademci G, Inchausti V, Dressen A, Kinnamon DD, Mehta A, Wang L, Züchner S, Beecham GW, Martin ER, Scott WK, Vance JM. Whole exome sequencing of rare variants in EIF4G1 and VPS35 in Parkinson disease. Neurology. 80: 982-9. PMID 23408866 DOI: 10.1212/Wnl.0B013E31828727D4  1
2013 Martin E, Schüle R, Smets K, Rastetter A, Boukhris A, Loureiro JL, Gonzalez MA, Mundwiller E, Deconinck T, Wessner M, Jornea L, Oteyza AC, Durr A, Martin JJ, Schöls L, et al. Loss of function of glucocerebrosidase GBA2 is responsible for motor neuron defects in hereditary spastic paraplegia. American Journal of Human Genetics. 92: 238-44. PMID 23332916 DOI: 10.1016/J.Ajhg.2012.11.021  1
2013 Kennerson ML, Yiu EM, Chuang DT, Kidambi A, Tso SC, Ly C, Chaudhry R, Drew AP, Rance G, Delatycki MB, Züchner S, Ryan MM, Nicholson GA. A new locus for X-linked dominant Charcot-Marie-Tooth disease (CMTX6) is caused by mutations in the pyruvate dehydrogenase kinase isoenzyme 3 (PDK3) gene. Human Molecular Genetics. 22: 1404-16. PMID 23297365 DOI: 10.1093/Hmg/Dds557  1
2013 Kohli MA, John-Williams K, Rajbhandary R, Naj A, Whitehead P, Hamilton K, Carney RM, Wright C, Crocco E, Gwirtzman HE, Lang R, Beecham G, Martin ER, Gilbert J, Benatar M, et al. Repeat expansions in the C9ORF72 gene contribute to Alzheimer's disease in Caucasians. Neurobiology of Aging. 34: 1519.e5-12. PMID 23107433 DOI: 10.1016/J.Neurobiolaging.2012.10.003  1
2013 Vester A, Velez-Ruiz G, McLaughlin HM, Lupski JR, Talbot K, Vance JM, Züchner S, Roda RH, Fischbeck KH, Biesecker LG, Nicholson G, Beg AA, Antonellis A. A loss-of-function variant in the human histidyl-tRNA synthetase (HARS) gene is neurotoxic in vivo. Human Mutation. 34: 191-9. PMID 22930593 DOI: 10.1002/Humu.22210  1
2013 Kohli M, Kunkle B, Naj A, Carney RM, Hamilton-Nelson K, Rolati S, Whitehead PL, Gilbert J, Martin E, Beecham G, Wang L, Mayeux R, Haines J, Farrer L, Schellenberg G, ... Zuchner S, et al. The identification of rare variants in late-onset Alzheimer’s disease using extended families Alzheimers & Dementia. 9. DOI: 10.1016/J.Jalz.2013.04.239  1
2012 Gonzalez MA, Van Booven D, Hulme W, Ulloa RH, Lebrigio RF, Osterloh J, Logan M, Freeman M, Zuchner S. Whole Genome Sequencing and a New Bioinformatics Platform Allow for Rapid Gene Identification in D. melanogaster EMS Screens. Biology. 1: 766-77. PMID 24832518 DOI: 10.3390/Biology1030766  1
2012 Tesson C, Nawara M, Salih MA, Rossignol R, Zaki MS, Al Balwi M, Schule R, Mignot C, Obre E, Bouhouche A, Santorelli FM, Durand CM, Oteyza AC, El-Hachimi KH, Al Drees A, ... ... Zuchner S, et al. Alteration of fatty-acid-metabolizing enzymes affects mitochondrial form and function in hereditary spastic paraplegia. American Journal of Human Genetics. 91: 1051-64. PMID 23176821 DOI: 10.1016/J.Ajhg.2012.11.001  1
2012 Osterloh JM, Yang J, Rooney TM, Fox AN, Adalbert R, Powell EH, Sheehan AE, Avery MA, Hackett R, Logan MA, MacDonald JM, Ziegenfuss JS, Milde S, Hou YJ, Nathan C, et al. dSarm/Sarm1 is required for activation of an injury-induced axon death pathway. Science (New York, N.Y.). 337: 481-4. PMID 22678360 DOI: 10.1126/Science.1223899  1
2012 Norton N, Robertson PD, Rieder MJ, Züchner S, Rampersaud E, Martin E, Li D, Nickerson DA, Hershberger RE. Evaluating pathogenicity of rare variants from dilated cardiomyopathy in the exome era Circulation: Cardiovascular Genetics. 5: 167-174. PMID 22337857 DOI: 10.1161/Circgenetics.111.961805  1
2012 Wang L, Hara K, Van Baaren JM, Price JC, Beecham GW, Gallins PJ, Whitehead PL, Wang G, Lu C, Slifer MA, Züchner S, Martin ER, Mash D, Haines JL, Pericak-Vance MA, et al. Vitamin D receptor and Alzheimer's disease: a genetic and functional study. Neurobiology of Aging. 33: 1844.e1-9. PMID 22306846 DOI: 10.1016/J.Neurobiolaging.2011.12.038  1
2012 Velinov M, Dolzhanskaya N, Gonzalez M, Powell E, Konidari I, Hulme W, Staropoli JF, Xin W, Wen GY, Barone R, Coppel SH, Sims K, Brown WT, Züchner S. Mutations in the gene DNAJC5 cause autosomal dominant Kufs disease in a proportion of cases: study of the Parry family and 8 other families. Plos One. 7: e29729. PMID 22235333 DOI: 10.1371/Journal.Pone.0029729  1
2012 Schuele R, Gonzalez M, Powell E, Klimpe S, Klebe S, Otto S, Klopstock T, Speziani F, Young P, Schoels L, Zuchner S. Analysis of 100 HSP Exomes and Characterization of Mutations in Known Autosomal Dominant Genes (P05.166) Neurology. 78. DOI: 10.1212/Wnl.78.1_Meetingabstracts.P05.166  1
2012 Pericak-Vance M, Zuchner S, Kohli M, John-Williams K, Naj A, Rajbhandary R, Whitehead PL, Hamilton-Nelson K, Carney R, Wright C, Crocco E, Gwirtzman H, Lang R, Beecham G, Martin E, et al. Large repeat expansions in the C9ORF72 gene contribute to a spectrum of neurodegenerative disorders including Alzheimer's disease in Caucasians, but not African-Americans Alzheimers & Dementia. 8. DOI: 10.1016/J.Jalz.2013.08.277  1
2012 Zuchner S, Kohli M, Naj A, Hamilton K, Rajbhandary R, Plitnik T, John-Williams K, Whitehead PL, Gilbert J, Martin E, Beecham G, Haines J, Pericak-Vance M. Exome sequencing of extended late-onset Alzheimer's disease families identifies a variant in the TTC3 gene Alzheimers & Dementia. 8: 679. DOI: 10.1016/J.Jalz.2012.05.1839  1
2012 Carney R, Kohli M, Naj A, Beecham G, Hamilton-Nelson K, Haines J, Gilbert J, Zuchner S, Pericak-Vance M. Parkinsonian symptoms and lack of prominent frontal atrophy in a family with early-onset dementia and the MAPT R406W mutation Alzheimers & Dementia. 8. DOI: 10.1016/J.Jalz.2012.05.1832  1
2012 Kohli M, John-Williams K, Bademci G, Plitnik T, Whitehead PL, Rajbhandary R, Hamilton-Nelson K, Naj A, Wang L, Carney R, Martin E, Beecham G, Vance J, Small G, Gilbert J, ... ... Zuchner S, et al. Identification of C9ORF72 repeat-expansions in Alzheimer's sample collections Alzheimers & Dementia. 8. DOI: 10.1016/J.Jalz.2012.05.1823  1
2011 Daftarian P, Chowdhury R, Ames P, Wei C, King AD, de Rivero Vaccari JP, Dillon L, Price J, Leung H, Ashlock B, Mesri E, Perez V, Züchner S, Reiser J, Lemmon V, et al. In vivo electroporation and non-protein based screening assays to identify antibodies against native protein conformations. Hybridoma (2005). 30: 409-18. PMID 22008067 DOI: 10.1089/Hyb.2010.0120  1
2011 Sirmaci A, Spiliopoulos M, Brancati F, Powell E, Duman D, Abrams A, Bademci G, Agolini E, Guo S, Konuk B, Kavaz A, Blanton S, Digilio MC, Dallapiccola B, Young J, ... Zuchner S, et al. Mutations in ANKRD11 cause KBG syndrome, characterized by intellectual disability, skeletal malformations, and macrodontia. American Journal of Human Genetics. 89: 289-94. PMID 21782149 DOI: 10.1016/J.Ajhg.2011.06.007  1
2011 Hedges DJ, Guettouche T, Yang S, Bademci G, Diaz A, Andersen A, Hulme WF, Linker S, Mehta A, Edwards YJ, Beecham GW, Martin ER, Pericak-Vance MA, Zuchner S, Vance JM, et al. Comparison of three targeted enrichment strategies on the SOLiD sequencing platform. Plos One. 6: e18595. PMID 21559511 DOI: 10.1371/Journal.Pone.0018595  1
2011 Norton N, Li D, Rieder MJ, Siegfried JD, Rampersaud E, Züchner S, Mangos S, Gonzalez-Quintana J, Wang L, McGee S, Reiser J, Martin E, Nickerson DA, Hershberger RE. Genome-wide studies of copy number variation and exome sequencing identify rare variants in BAG3 as a cause of dilated cardiomyopathy American Journal of Human Genetics. 88: 273-282. PMID 21353195 DOI: 10.1016/J.Ajhg.2011.01.016  1
2011 Butler MW, Burt A, Edwards TL, Zuchner S, Scott WK, Martin ER, Vance JM, Wang L. Vitamin D receptor gene as a candidate gene for Parkinson disease. Annals of Human Genetics. 75: 201-10. PMID 21309754 DOI: 10.1111/J.1469-1809.2010.00631.X  1
2011 Züchner S, Dallman J, Wen R, Beecham G, Naj A, Farooq A, Kohli MA, Whitehead PL, Hulme W, Konidari I, Edwards YJ, Cai G, Peter I, Seo D, Buxbaum JD, et al. Whole-exome sequencing links a variant in DHDDS to retinitis pigmentosa. American Journal of Human Genetics. 88: 201-6. PMID 21295283 DOI: 10.1016/J.Ajhg.2011.01.001  1
2011 McCorquodale DS, Montenegro G, Peguero A, Carlson N, Speziani F, Price J, Taylor SW, Melanson M, Vance JM, Züchner S. Mutation screening of mitofusin 2 in Charcot-Marie-Tooth disease type 2. Journal of Neurology. 258: 1234-9. PMID 21258814 DOI: 10.1007/S00415-011-5910-7  1
2011 Montenegro G, Powell E, Huang J, Speziani F, Edwards YJ, Beecham G, Hulme W, Siskind C, Vance J, Shy M, Züchner S. Exome sequencing allows for rapid gene identification in a Charcot-Marie-Tooth family. Annals of Neurology. 69: 464-70. PMID 21254193 DOI: 10.1002/Ana.22235  1
2011 McCorquodale DS, Ozomaro U, Huang J, Montenegro G, Kushman A, Citrigno L, Price J, Speziani F, Pericak-Vance MA, Züchner S. Mutation screening of spastin, atlastin, and REEP1 in hereditary spastic paraplegia. Clinical Genetics. 79: 523-30. PMID 20718791 DOI: 10.1111/J.1399-0004.2010.01501.X  1
2010 Williams SL, Huang J, Edwards YJ, Ulloa RH, Dillon LM, Prolla TA, Vance JM, Moraes CT, Züchner S. The mtDNA mutation spectrum of the progeroid Polg mutator mouse includes abundant control region multimers. Cell Metabolism. 12: 675-82. PMID 21109200 DOI: 10.1016/J.Cmet.2010.11.012  1
2010 Martin ER, Kinnamon DD, Schmidt MA, Powell EH, Zuchner S, Morris RW. SeqEM: an adaptive genotype-calling approach for next-generation sequencing studies. Bioinformatics (Oxford, England). 26: 2803-10. PMID 20861027 DOI: 10.1093/Bioinformatics/Btq526  1
2010 Bademci G, Edwards TL, Torres AL, Scott WK, Züchner S, Martin ER, Vance JM, Wang L. A rare novel deletion of the tyrosine hydroxylase gene in Parkinson disease. Human Mutation. 31: E1767-71. PMID 20809526 DOI: 10.1002/Humu.21351  1
2010 Lou E, Züchner S, Vance J, Morgenlander J. A potential novel variant of hereditary sensory neuropathy in a 61-year-old man with cough-induced syncope and vertebral artery dissection. Mayo Clinic Proceedings. 85: 594-5. PMID 20511489 DOI: 10.4065/Mcp.2009.0685  0.01
2010 Sirmaci A, Erbek S, Price J, Huang M, Duman D, Cengiz FB, Bademci G, Tokgöz-Yilmaz S, HiÅŸmi B, OzdaÄŸ H, Oztürk B, KulaksizoÄŸlu S, Yildirim E, Kokotas H, Grigoriadou M, ... ... Zuchner S, et al. A truncating mutation in SERPINB6 is associated with autosomal-recessive nonsyndromic sensorineural hearing loss. American Journal of Human Genetics. 86: 797-804. PMID 20451170 DOI: 10.1016/J.Ajhg.2010.04.004  1
2010 Calakos N, Patel VD, Gottron M, Wang G, Tran-Viet KN, Brewington D, Beyer JL, Steffens DC, Krishnan RR, Züchner S. Functional evidence implicating a novel TOR1A mutation in idiopathic, late-onset focal dystonia. Journal of Medical Genetics. 47: 646-50. PMID 19955557 DOI: 10.1136/Jmg.2009.072082  1
2010 Huang J, Wu X, Montenegro G, Price J, Wang G, Vance JM, Shy ME, Züchner S. Copy number variations are a rare cause of non-CMT1A Charcot-Marie-Tooth disease. Journal of Neurology. 257: 735-41. PMID 19949810 DOI: 10.1007/S00415-009-5401-2  1
2009 Hedges DJ, Hedges D, Burges D, Powell E, Almonte C, Huang J, Young S, Boese B, Schmidt M, Pericak-Vance MA, Martin E, Zhang X, Harkins TT, Züchner S. Exome sequencing of a multigenerational human pedigree. Plos One. 4: e8232. PMID 20011588 DOI: 10.1371/Journal.Pone.0008232  1
2009 Claeys KG, Züchner S, Kennerson M, Berciano J, Garcia A, Verhoeven K, Storey E, Merory JR, Bienfait HM, Lammens M, Nelis E, Baets J, De Vriendt E, Berneman ZN, De Veuster I, et al. Phenotypic spectrum of dynamin 2 mutations in Charcot-Marie-Tooth neuropathy. Brain : a Journal of Neurology. 132: 1741-52. PMID 19502294 DOI: 10.1093/Brain/Awp115  1
2009 Liang X, Slifer M, Martin ER, Schnetz-Boutaud N, Bartlett J, Anderson B, Züchner S, Gwirtsman H, Gilbert JR, Pericak-Vance MA, Haines JL. Genomic convergence to identify candidate genes for Alzheimer disease on chromosome 10. Human Mutation. 30: 463-71. PMID 19241460 DOI: 10.1002/Humu.20953  1
2009 Zuchner S, Krishnan R. CHAPTER 104 – Psychiatric Disorders Genomic and Personalized Medicinevolumes I & Ii. 1282-1288. DOI: 10.1016/B978-0-12-369420-1.00104-9  0.01
2008 Taylor WD, Züchner S, McQuoid DR, Steffens DC, Blazer DG, Krishnan KRR. Social support in older individuals: the role of the BDNF Val66Met polymorphism. American Journal of Medical Genetics. 147: 1205-1212. PMID 18384075 DOI: 10.1002/Ajmg.B.30754  1
2008 Beetz C, Schüle R, Deconinck T, Tran-Viet KN, Zhu H, Kremer BP, Frints SG, van Zelst-Stams WA, Byrne P, Otto S, Nygren AO, Baets J, Smets K, Ceulemans B, Dan B, et al. REEP1 mutation spectrum and genotype/phenotype correlation in hereditary spastic paraplegia type 31. Brain : a Journal of Neurology. 131: 1078-86. PMID 18321925 DOI: 10.1093/Brain/Awn026  1
2008 Wang G, van der Walt JM, Mayhew G, Li YJ, Züchner S, Scott WK, Martin ER, Vance JM. Variation in the miRNA-433 binding site of FGF20 confers risk for Parkinson disease by overexpression of alpha-synuclein. American Journal of Human Genetics. 82: 283-9. PMID 18252210 DOI: 10.1016/J.Ajhg.2007.09.021  1
2007 Liang X, Martin ER, Schnetz-Boutaud N, Bartlett J, Anderson B, Züchner S, Gwirtsman H, Schmechel D, Carney R, Gilbert JR, Pericak-Vance MA, Haines JL. Effect of heterogeneity on the chromosome 10 risk in late-onset Alzheimer disease. Human Mutation. 28: 1065-73. PMID 17573676 DOI: 10.1002/Humu.20567  1
2007 Baránková L, Vyhnálková E, Züchner S, Mazanec R, Sakmaryová I, Vondráček P, Merlini L, Bojar M, Nelis E, Jonghe PD, Seeman P. GDAP1 mutations in Czech families with early-onset CMT. Neuromuscular Disorders. 17: 482-489. PMID 17433678 DOI: 10.1016/J.Nmd.2007.02.010  1
2007 Beetz C, Zuchner S, Ashley-Koch A, Auer-Grumbach M, Byrne P, Chinnery PF, Hutchinson M, McDermott CJ, Meijer IA, Nygren AO, Pericak-Vance M, Pyle A, Rouleau GA, Schickel J, Shaw PJ, et al. Linkage to a known gene but no mutation identified: comprehensive reanalysis of SPG4 HSP pedigrees reveals large deletions as the sole cause. Human Mutation. 28: 739-40. PMID 17345589 DOI: 10.1002/Humu.20508  1
2006 Zuchner S, Cuccaro ML, Tran-Viet KN, Cope H, Krishnan RR, Pericak-Vance MA, Wright HH, Ashley-Koch A. SLITRK1 mutations in trichotillomania. Molecular Psychiatry. 11: 887-9. PMID 17003809 DOI: 10.1038/Sj.Mp.4001898  1
2006 Züchner S, Wang G, Tran-Viet KN, Nance MA, Gaskell PC, Vance JM, Ashley-Koch AE, Pericak-Vance MA. Mutations in the novel mitochondrial protein REEP1 cause hereditary spastic paraplegia type 31. American Journal of Human Genetics. 79: 365-9. PMID 16826527 DOI: 10.1086/505361  1
2006 Züchner S, Vance JM. Molecular genetics of autosomal-dominant axonal charcot-marie-tooth disease Neuromolecular Medicine. 8: 63-74. PMID 16775367 DOI: 10.1385/Nmm:8:1-2:63  1
2006 Verhoeven K, Claeys KG, Züchner S, Schröder JM, Weis J, Ceuterick C, Jordanova A, Nelis E, De Vriendt E, Van Hul M, Seeman P, Mazanec R, Saifi GM, Szigeti K, Mancias P, et al. MFN2 mutation distribution and genotype/phenotype correlation in Charcot-Marie-Tooth type 2. Brain : a Journal of Neurology. 129: 2093-102. PMID 16714318 DOI: 10.1093/Brain/Awl126  1
2006 Züchner S, De Jonghe P, Jordanova A, Claeys KG, Guergueltcheva V, Cherninkova S, Hamilton SR, Van Stavern G, Krajewski KM, Stajich J, Tournev I, Verhoeven K, Langerhorst CT, de Visser M, Baas F, et al. Axonal neuropathy with optic atrophy is caused by mutations in mitofusin 2. Annals of Neurology. 59: 276-81. PMID 16437557 DOI: 10.1002/Ana.20797  1
2006 Claeys KG, Züchner S, Kennerson M, Verhoeven K, Ceuterick C, Martin JJ, Berciano J, Vance JM, Nicholson G, Timmerman V, Jonghe PD. G.O. 9 Dynamin 2 mutations are associated with dominant intermediate Charcot-Marie-Tooth disease and dominant centronuclear myopathy Neuromuscular Disorders. 16: 725. DOI: 10.1016/J.Nmd.2006.05.256  1
2006 Verhoeven K, Claeys KG, Züchner S, Schröder JM, Vance JM, Timmerman V, Jonghe PD. N.P.3 05 Mitofusin 2 mutations are a major cause for autosomal dominant axonal CMT neuropathy Neuromuscular Disorders. 16: 665-666. DOI: 10.1016/J.Nmd.2006.05.081  1
2006 Zuchner S, Xu P, Browning C, Bronson PG, Martin ER, Gilbert JR, Haines JL, Pericak-Vance MA. P1-362: Genetic evaluation of the Alzheimer’s disease locus on chromosome 9p21.3 Alzheimers & Dementia. 2. DOI: 10.1016/J.Jalz.2006.05.740  1
2006 Schnetz-Boutaud N, Liang X, Martin ER, Anderson BM, Zuchner S, Gilbert JR, Pericak-Vance MA, Haines JL. P1-313: Examination of the effect of heterogeneity on the chromosome 10 risk in late-onset Alzheimer’s disease Alzheimers & Dementia. 2. DOI: 10.1016/J.Jalz.2006.05.691  1
2005 Szabo A, Züchner S, Siska E, Mechler F, Molnar MJ. Marked phenotypic variation in a family with a new myelin protein zero mutation. Neuromuscular Disorders : Nmd. 15: 760-3. PMID 16198109 DOI: 10.1016/J.Nmd.2005.07.006  1
2005 Xu H, Gregory SG, Hauser ER, Stenger JE, Pericak-Vance MA, Vance JM, Züchner S, Hauser MA. SNPselector: a web tool for selecting SNPs for genetic association studies. Bioinformatics (Oxford, England). 21: 4181-6. PMID 16179360 DOI: 10.1093/Bioinformatics/Bti682  1
2005 Züchner S, Vance JM. Emerging pathways for hereditary axonopathies Journal of Molecular Medicine. 83: 935-943. PMID 16133422 DOI: 10.1007/S00109-005-0694-9  1
2005 Zhu D, Kennerson ML, Walizada G, Züchner S, Vance JM, Nicholson GA. Charcot-Marie-Tooth with pyramidal signs is genetically heterogeneous: families with and without MFN2 mutations. Neurology. 65: 496-7. PMID 16087932 DOI: 10.1212/01.Wnl.0000171345.62270.29  1
2005 Oliveira SA, Li YJ, Noureddine MA, Zuchner S, Qin X, Pericak-Vance MA, Vance JM. Identification of risk and age-at-onset genes on chromosome 1p in Parkinson disease. American Journal of Human Genetics. 77: 252-64. PMID 15986317 DOI: 10.1086/432588  1
2005 Züchner S, Noureddine M, Kennerson M, Verhoeven K, Claeys K, De Jonghe P, Merory J, Oliveira SA, Speer MC, Stenger JE, Walizada G, Zhu D, Pericak-Vance MA, Nicholson G, Timmerman V, et al. Mutations in the pleckstrin homology domain of dynamin 2 cause dominant intermediate Charcot-Marie-Tooth disease. Nature Genetics. 37: 289-94. PMID 15731758 DOI: 10.1038/Ng1514  1
2005 Zuchner S, Noureddine M, Kennerson M, Verhoeven K, Claeys K, Jonghe PD, Merory J, Oliveira SA, Speer MC, Stenger JE, Walizada G, Zhu D, Pericak-Vance MA, Nicholson G, Timmerman V, et al. Mutations in the Pleckstrin Homology Domain of Dynamin 2 Cause Dominant Intermediate Charcot-Marie-Tooth Disease LBS.002 Neurology. 64: 1826-1826. DOI: 10.1212/Wnl.64.10.1826-A  1
2004 Züchner S, Mersiyanova IV, Muglia M, Bissar-Tadmouri N, Rochelle J, Dadali EL, Zappia M, Nelis E, Patitucci A, Senderek J, Parman Y, Evgrafov O, Jonghe PD, Takahashi Y, Tsuji S, et al. Mutations in the mitochondrial GTPase mitofusin 2 cause Charcot-Marie-Tooth neuropathy type 2A. Nature Genetics. 36: 449-51. PMID 15064763 DOI: 10.1038/Ng1341  1
2004 Züchner S, Vorgerd M, Sindern E, Schröder JM. The novel neurofilament light (NEFL) mutation Glu397Lys is associated with a clinically and morphologically heterogeneous type of Charcot-Marie-Tooth neuropathy. Neuromuscular Disorders. 14: 147-157. PMID 14733962 DOI: 10.1016/J.Nmd.2003.10.003  1
2003 Züchner S, Kawohl W, Sellhaus B, Mull M, Mayfrank L, Kosinski CM. A case of gliosarcoma appearing as ischaemic stroke Journal of Neurology, Neurosurgery, and Psychiatry. 74: 364-366. PMID 12588929 DOI: 10.1136/Jnnp.74.3.364  1
2003 Senderek J, Bergmann C, Ramaekers VT, Nelis E, Bernert G, Makowski A, Züchner S, De Jonghe P, Rudnik-Schöneborn S, Zerres K, Schröder JM. Mutations in the ganglioside-induced differentiation-associated protein-1 (GDAP1) gene in intermediate type autosomal recessive Charcot-Marie-Tooth neuropathy. Brain : a Journal of Neurology. 126: 642-9. PMID 12566285 DOI: 10.1093/Brain/Awg068  1
2003 Züchner S, Sperfeld AD, Senderek J, Sellhaus B, Hanemann CO, Schröder JM. Erratum: A novel nonsense mutation in the ABC1 gene causes a severe syringomyelia-like phenotype of Tangier disease (Brain (April 2003) 26:4 (920-927)) Brain. 126. DOI: 10.1093/Brain/Awg252  1
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