| Year |
Citation |
Score |
| 2024 |
Jacobs EH, Schatzman Raposo J, Scardamaglia A, Alkuraya FS, Nafissi S, Houlden H, Zuchner S, Saporta MA. Establishment and characterization of three human pluripotent stem cell lines from Charcot-Marie-Tooth disease Type 4B3 patients bearing mutations in MTMR5/Sbf1 gene. Stem Cell Research. 81: 103599. PMID 39461113 DOI: 10.1016/j.scr.2024.103599 |
0.329 |
|
| 2024 |
Medina J, Rebelo A, Danzi MC, Jacobs EH, Xu IRL, Ahrens KP, Chen S, Raposo J, Yanick C, Zuchner S, Saporta MA. Customized antisense oligonucleotide-based therapy for neurofilament-associated Charcot-Marie-Tooth disease. Brain : a Journal of Neurology. PMID 39008620 DOI: 10.1093/brain/awae225 |
0.315 |
|
| 2024 |
Armirola-Ricaurte C, Morant L, Adant I, Hamed SA, Pipis M, Efthymiou S, Amor-Barris S, Atkinson D, Van de Vondel L, Tomic A, de Vriendt E, Zuchner S, Ghesquiere B, Hanna M, Houlden H, et al. Biallelic variants in cause a mitochondrial disorder primarily manifesting as peripheral neuropathy. Medrxiv : the Preprint Server For Health Sciences. PMID 39006432 DOI: 10.1101/2024.07.03.24309787 |
0.314 |
|
| 2024 |
Beijer D, Dohrn MF, Rebelo A, Danzi MC, Grosz BR, Ellis M, Kumar KR, Vucic S, Vais H, Weissenrieder JS, Lunko O, Paudel U, Simpson LC, Raposo J, Saporta M, ... ... Zuchner S, et al. A recurrent missense variant in ITPR3 causes demyelinating Charcot-Marie-Tooth with variable severity. Brain : a Journal of Neurology. PMID 38938188 DOI: 10.1093/brain/awae206 |
0.411 |
|
| 2024 |
Li L, Menezes MP, Smith M, Forbes R, Züchner S, Burgess A, Woodcock IR, Delatycki MB, Yiu EM. Rare homozygous disease-associated sequence variants in children with spinal muscular atrophy: a phenotypic description and review of the literature. Neuromuscular Disorders : Nmd. 37: 29-35. PMID 38520993 DOI: 10.1016/j.nmd.2024.03.005 |
0.317 |
|
| 2024 |
Beijer D, Marte S, Li JC, De Ridder W, Chen JZ, Tadenev ALD, Miers KE, Deconinck T, Macdonell R, Marques W, De Jonghe P, Pratt SL, Meyer-Schuman R, Züchner S, Antonellis A, et al. Dominant mutations causing axonal Charcot-Marie-Tooth disease expand -associated diseases. Brain Communications. 6: fcae070. PMID 38495304 DOI: 10.1093/braincomms/fcae070 |
0.353 |
|
| 2024 |
Pellerin D, Danzi MC, Renaud M, Houlden H, Synofzik M, Zuchner S, Brais B. Spinocerebellar ataxia 27B: A novel, frequent and potentially treatable ataxia. Clinical and Translational Medicine. 14: e1504. PMID 38279833 DOI: 10.1002/ctm2.1504 |
0.302 |
|
| 2023 |
Yalcouyé A, Rebelo AP, Cissé L, Rives L, Bamba S, Cogan J, Esoh K, Diarra S, Ezell KM, Taméga A, Guinto CO, Dohrn MF, Hamid R, Fischbeck KH, Zuchner S, et al. Novel variant in causes Charcot-Marie-Tooth disease. Brain Communications. 5: fcad227. PMID 38074074 DOI: 10.1093/braincomms/fcad227 |
0.339 |
|
| 2023 |
Kulsirichawaroj P, Suksangkharn Y, Nam DE, Pho-Iam T, Limwongse C, Chung KW, Sanmaneechai O, Zuchner SL, Choi BO. Gene Distribution in Pediatric-Onset Inherited Peripheral Neuropathy: A Single Tertiary Center in Thailand. Journal of Neuromuscular Diseases. PMID 37927275 DOI: 10.3233/JND-230174 |
0.301 |
|
| 2023 |
Lischka A, Eggermann K, Record CJ, Dohrn MF, Laššuthová P, Kraft F, Begemann M, Dey D, Eggermann T, Beijer D, Šoukalová J, Laura M, Rossor AM, Mazanec R, Van Lent J, et al. Genetic landscape of congenital insensitivity to pain and hereditary sensory and autonomic neuropathies. Brain : a Journal of Neurology. PMID 37769650 DOI: 10.1093/brain/awad328 |
0.346 |
|
| 2023 |
Wang M, Yang H, Lin Z, Li X, Liu L, Huang S, Zhao H, Zhu X, Xiao Q, Duan R, Wang J, Zuchner S, Tang B, Zhang R. The genetic and clinical spectrum in a cohort of 39 families with complex inherited peripheral neuropathies. Journal of Neurology. PMID 37365282 DOI: 10.1007/s00415-023-11821-z |
0.353 |
|
| 2023 |
Horvath R, Medina J, Reilly MM, Shy ME, Zuchner S. Peripheral neuropathy in mitochondrial disease. Handbook of Clinical Neurology. 194: 99-116. PMID 36813324 DOI: 10.1016/B978-0-12-821751-1.00014-2 |
0.321 |
|
| 2022 |
Cipriani S, Guerrero-Valero M, Tozza S, Zhao E, Vollmer V, Beijer D, Danzi M, Rivellini C, Lazarevic D, Pipitone GB, Grosz BR, Lamperti C, Marzoli SB, Carrera P, Devoto M, ... ... Zuchner S, et al. Mutations in MYO9B are associated with CMT2 neuropathies and isolated optic atrophy. European Journal of Neurology. PMID 36260368 DOI: 10.1111/ene.15601 |
0.39 |
|
| 2022 |
Van de Vondel L, De Winter J, Beijer D, Coarelli G, Wayand M, Palvadeau R, Pauly MG, Klein K, Rautenberg M, Guillot-Noël L, Deconinck T, Vural A, Ertan S, Dogu O, Uysal H, et al. De Novo and Dominantly Inherited SPTAN1 Mutations Cause Spastic Paraplegia and Cerebellar Ataxia. Movement Disorders : Official Journal of the Movement Disorder Society. PMID 35150594 DOI: 10.1002/mds.28959 |
0.319 |
|
| 2022 |
Beijer D, Polavarapu K, Preethish-Kumar V, Bardhan M, Dohrn MF, Rebelo A, Züchner S, Nalini A. Homozygous N-terminal missense variant in PLEKHG5 associated with intermediate CMT: A case report. Journal of Neuromuscular Diseases. 9: 347-351. PMID 34897098 DOI: 10.3233/JND-210716 |
0.365 |
|
| 2021 |
Kozol RA, James DM, Varela I, Sumathipala SH, Züchner S, Dallman JE. Restoring Shank3 in the rostral brainstem of shank3ab-/- zebrafish autism models rescues sensory deficits. Communications Biology. 4: 1411. PMID 34921227 DOI: 10.1038/s42003-021-02920-6 |
0.668 |
|
| 2021 |
Cintra VP, Dohrn MF, Tomaselli PJ, Figueiredo FB, Marques SE, Camargos ST, Barbosa LSM, P Rebelo A, Abreu L, Danzi M, Marques W, Züchner S. Rare mutations in ATL3, SPTLC2 and SCN9A explaining hereditary sensory neuropathy and congenital insensitivity to pain in a Brazilian cohort. Journal of the Neurological Sciences. 427: 117498. PMID 34090020 DOI: 10.1016/j.jns.2021.117498 |
0.331 |
|
| 2021 |
Wiessner M, Maroofian R, Ni MY, Pedroni A, Müller JS, Stucka R, Beetz C, Efthymiou S, Santorelli FM, Alfares AA, Zhu C, Uhrova Meszarosova A, Alehabib E, Bakhtiari S, Janecke AR, et al. Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia. Brain : a Journal of Neurology. PMID 33970200 DOI: 10.1093/brain/awab041 |
0.317 |
|
| 2021 |
Venincasa MJ, Randlett O, Sumathipala SH, Bindernagel R, Stark MJ, Yan Q, Sloan SA, Buglo E, Meng QC, Engert F, Züchner S, Kelz MB, Syed S, Dallman JE. Elevated preoptic brain activity in zebrafish glial glycine transporter mutants is linked to lethargy-like behaviors and delayed emergence from anesthesia. Scientific Reports. 11: 3148. PMID 33542258 DOI: 10.1038/s41598-021-82342-w |
0.639 |
|
| 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 |
0.307 |
|
| 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 |
0.422 |
|
| 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 |
0.309 |
|
| 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 |
0.395 |
|
| 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 |
0.474 |
|
| 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 |
0.429 |
|
| 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 |
0.691 |
|
| 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 |
0.367 |
|
| 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 |
0.716 |
|
| 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 |
0.322 |
|
| 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 |
0.724 |
|
| 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 |
0.391 |
|
| 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 |
0.306 |
|
| 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 |
0.346 |
|
| 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 |
0.311 |
|
| 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 |
0.456 |
|
| 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 |
0.41 |
|
| 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 |
0.398 |
|
| 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 |
0.325 |
|
| 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 |
0.413 |
|
| 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 |
0.342 |
|
| 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 |
0.355 |
|
| 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 |
0.489 |
|
| 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 |
0.415 |
|
| 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 |
0.402 |
|
| 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 |
0.36 |
|
| 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 |
0.417 |
|
| 2018 |
Bis-Brewer DM, Züchner S. Perspectives on the Genomics of HSP Beyond Mendelian Inheritance. Frontiers in Neurology. 9: 958. PMID 30534106 DOI: 10.3389/fneur.2018.00958 |
0.316 |
|
| 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 |
0.328 |
|
| 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 |
0.33 |
|
| 2018 |
Eidhof I, Baets J, Kamsteeg EJ, Deconinck T, van Ninhuijs L, Martin JJ, Schüle R, Züchner S, De Jonghe P, Schenck A, van de Warrenburg BP. GDAP2 mutations implicate susceptibility to cellular stress in a new form of cerebellar ataxia. Brain : a Journal of Neurology. PMID 30084953 DOI: 10.1093/Brain/Awy198 |
0.366 |
|
| 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 |
0.664 |
|
| 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 |
0.398 |
|
| 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 |
0.384 |
|
| 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 |
0.319 |
|
| 2018 |
Rebelo AP, Saade D, Pereira CP, Farooq A, Huff TC, Abreu L, Moraes CT, Mnatsakanova D, Mathews K, Yang H, Schon EA, Zuchner S, Shy ME. SCO2 mutations cause early-onset axonal Charcot-Marie-Tooth disease associated with cellular copper deficiency. Brain : a Journal of Neurology. PMID 29351582 DOI: 10.1093/Brain/Awx369 |
0.356 |
|
| 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 |
0.438 |
|
| 2017 |
Wilke C, Baets J, De Bleecker JL, Deconinck T, Biskup S, Hayer SN, Züchner S, Schüle R, De Jonghe P, Synofzik M. Beyond ALS and FTD: the phenotypic spectrum of TBK1 mutations includes PSP-like and cerebellar phenotypes. Neurobiology of Aging. PMID 29137817 DOI: 10.1016/J.Neurobiolaging.2017.10.010 |
0.37 |
|
| 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 |
0.425 |
|
| 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 |
0.413 |
|
| 2017 |
Jacquier A, Delorme C, Belotti E, Juntas-Morales R, Solé G, Dubourg O, Giroux M, Maurage CA, Castellani V, Rebelo A, Abrams A, Züchner S, Stojkovic T, Schaeffer L, Latour P. Cryptic amyloidogenic elements in mutant NEFH causing Charcot-Marie-Tooth 2 trigger aggresome formation and neuronal death. Acta Neuropathologica Communications. 5: 55. PMID 28709447 DOI: 10.1186/S40478-017-0457-1 |
0.333 |
|
| 2017 |
Bis DM, Schüle R, Reichbauer J, Synofzik M, Rattay TW, Soehn A, de Jonghe P, Schöls L, Züchner S. Uniparental disomy determined by whole-exome sequencing in a spectrum of rare motoneuron diseases and ataxias. Molecular Genetics & Genomic Medicine. 5: 280-286. PMID 28546998 DOI: 10.1002/mgg3.285 |
0.305 |
|
| 2017 |
Horga A, Laurà M, Jaunmuktane Z, Jerath NU, Gonzalez MA, Polke JM, Poh R, Blake JC, Liu YT, Wiethoff S, Bettencourt C, Lunn MP, Manji H, Hanna MG, Houlden H, et al. Genetic and clinical characteristics of NEFL-related Charcot-Marie-Tooth disease. Journal of Neurology, Neurosurgery, and Psychiatry. PMID 28501821 DOI: 10.1136/Jnnp-2016-315077 |
0.319 |
|
| 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 |
0.314 |
|
| 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 |
0.513 |
|
| 2017 |
Hengel H, Magee A, Mahanjah M, Vallat JM, Ouvrier R, Abu-Rashid M, Mahamid J, Schüle R, Schulze M, Krägeloh-Mann I, Bauer P, Züchner S, Sharkia R, Schöls L. CNTNAP1 mutations cause CNS hypomyelination and neuropathy with or without arthrogryposis. Neurology. Genetics. 3: e144. PMID 28374019 DOI: 10.1212/NXG.0000000000000144 |
0.374 |
|
| 2017 |
Tsai PC, Soong BW, Mademan I, Huang YH, Liu CR, Hsiao CT, Wu HT, Liu TT, Liu YT, Tseng YT, Lin KP, Yang UC, Chung KW, Choi BO, Nicholson GA, et al. A recurrent WARS mutation is a novel cause of autosomal dominant distal hereditary motor neuropathy. Brain : a Journal of Neurology. PMID 28369220 DOI: 10.1093/Brain/Awx058 |
0.335 |
|
| 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 |
0.306 |
|
| 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 |
0.448 |
|
| 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 |
0.4 |
|
| 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 |
0.425 |
|
| 2017 |
Bengoechea R, Motley W, Bird S, Zuchner S, Scherer S, Weihl C. A novel BAG3 mutation associated with myofibrillar myopathy emphasizes HSP70 dependent activity Neuromuscular Disorders. 27: S120. DOI: 10.1016/J.Nmd.2017.06.105 |
0.394 |
|
| 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 |
0.439 |
|
| 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 |
0.363 |
|
| 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 |
0.411 |
|
| 2016 |
Horga A, Tomaselli PJ, Gonzalez MA, Laurà M, Muntoni F, Manzur AY, Hanna MG, Blake JC, Houlden H, Züchner S, Reilly MM. SIGMAR1 mutation associated with autosomal recessive Silver-like syndrome. Neurology. PMID 27629094 DOI: 10.1212/WNL.0000000000003212 |
0.357 |
|
| 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 |
0.334 |
|
| 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 |
0.428 |
|
| 2016 |
Auer-Grumbach M, Toegel S, Schabhüttl M, Weinmann D, Chiari C, Bennett DL, Beetz C, Klein D, Andersen PM, Böhme I, Fink-Puches R, Gonzalez M, Harms MB, Motley W, Reilly MM, et al. Rare Variants in MME, Encoding Metalloprotease Neprilysin, Are Linked to Late-Onset Autosomal-Dominant Axonal Polyneuropathies. American Journal of Human Genetics. 99: 607-623. PMID 27588448 DOI: 10.1016/J.Ajhg.2016.07.008 |
0.388 |
|
| 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 |
0.402 |
|
| 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 |
0.422 |
|
| 2016 |
Synofzik M, Smets K, Mallaret M, Di Bella D, Gallenmüller C, Baets J, Schulze M, Magri S, Sarto E, Mustafa M, Deconinck T, Haack T, Züchner S, Gonzalez M, Timmann D, et al. SYNE1 ataxia is a common recessive ataxia with major non-cerebellar features: a large scale multi-centre study. Brain : a Journal of Neurology. PMID 27086870 DOI: 10.1093/Brain/Aww079 |
0.361 |
|
| 2016 |
Balicza P, Grosz Z, Gonzalez MA, Bencsik R, Pentelenyi K, Gal A, Varga E, Klivenyi P, Koller J, Züchner S, Molnar JM. Genetic background of the hereditary spastic paraplegia phenotypes in Hungary - An analysis of 58 probands. Journal of the Neurological Sciences. 364: 116-21. PMID 27084228 DOI: 10.1016/J.Jns.2016.03.018 |
0.346 |
|
| 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 |
0.711 |
|
| 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 |
0.306 |
|
| 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 |
0.402 |
|
| 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 |
0.352 |
|
| 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 |
0.494 |
|
| 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 |
0.34 |
|
| 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 |
0.388 |
|
| 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 |
0.458 |
|
| 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 |
0.379 |
|
| 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 |
0.445 |
|
| 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 |
0.717 |
|
| 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 |
0.338 |
|
| 2015 |
Strickland AV, Schabhüttl M, Offenbacher H, Synofzik M, Hauser NS, Brunner-Krainz M, Gruber-Sedlmayr U, Moore SA, Windhager R, Bender B, Harms M, Klebe S, Young P, Kennerson M, Garcia AS, et al. Mutation screen reveals novel variants and expands the phenotypes associated with DYNC1H1. Journal of Neurology. PMID 26100331 DOI: 10.1007/S00415-015-7727-2 |
0.365 |
|
| 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 |
0.504 |
|
| 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 |
0.371 |
|
| 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 |
0.437 |
|
| 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 |
0.342 |
|
| 2015 |
Syrbe S, Hedrich UB, Riesch E, Djémié T, Müller S, Møller RS, Maher B, Hernandez-Hernandez L, Synofzik M, Caglayan HS, Arslan M, Serratosa JM, Nothnagel M, May P, Krause R, et al. De novo loss- or gain-of-function mutations in KCNA2 cause epileptic encephalopathy. Nature Genetics. 47: 393-9. PMID 25751627 DOI: 10.1038/Ng.3239 |
0.321 |
|
| 2015 |
Roos A, Weis J, Korinthenberg R, Fehrenbach H, Häusler M, Züchner S, Mache C, Hubmann H, Auer-Grumbach M, Senderek J. Inverted formin 2-related Charcot-Marie-Tooth disease: extension of the mutational spectrum and pathological findings in Schwann cells and axons. Journal of the Peripheral Nervous System : Jpns. 20: 52-9. PMID 25676889 DOI: 10.1111/jns.12106 |
0.393 |
|
| 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 |
0.336 |
|
| 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 |
0.446 |
|
| 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 |
0.49 |
|
| 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 |
0.394 |
|
| 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 |
0.404 |
|
| 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 |
0.3 |
|
| 2014 |
Griffin LB, Sakaguchi R, McGuigan D, Gonzalez MA, Searby C, Züchner S, Hou YM, Antonellis A. Impaired function is a common feature of neuropathy-associated glycyl-tRNA synthetase mutations. Human Mutation. 35: 1363-71. PMID 25168514 DOI: 10.1002/Humu.22681 |
0.395 |
|
| 2014 |
Beutler AS, Kulkarni AA, Kanwar R, Klein CJ, Therneau TM, Qin R, Banck MS, Boora GK, Ruddy KJ, Wu Y, Smalley RL, Cunningham JM, Le-Lindqwister NA, Beyerlein P, Schroth GP, et al. Sequencing of Charcot-Marie-Tooth disease genes in a toxic polyneuropathy. Annals of Neurology. 76: 727-37. PMID 25164601 DOI: 10.1002/Ana.24265 |
0.327 |
|
| 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 |
0.384 |
|
| 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 |
0.477 |
|
| 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 |
0.478 |
|
| 2014 |
Strickland AV, Rebelo AP, Zhang F, Price J, Bolon B, Silva JP, Wen R, Züchner S. Characterization of the mitofusin 2 R94W mutation in a knock-in mouse model. Journal of the Peripheral Nervous System : Jpns. 19: 152-64. PMID 24862862 DOI: 10.1111/Jns5.12066 |
0.385 |
|
| 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 |
0.467 |
|
| 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 |
0.445 |
|
| 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 |
0.31 |
|
| 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 |
0.46 |
|
| 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 |
0.349 |
|
| 2014 |
Cottenie E, Kochanski A, Jordanova A, Baets J, Rasic VM, Quinlivan R, Lunn M, Hanna M, Zuchner S, Harms M, Choi B, Reilly M, Houlden H. P57 IGHMBP2 mutations cause recessive axonal neuropathy: Genetic and functional characterisation in seven families Neuromuscular Disorders. 24: S22. DOI: 10.1016/S0960-8966(14)70073-2 |
0.327 |
|
| 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 |
0.425 |
|
| 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 |
0.363 |
|
| 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 |
0.372 |
|
| 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 |
0.432 |
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| 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 |
0.461 |
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| 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 |
0.472 |
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| 2013 |
Gonzalez M, McLaughlin H, Houlden H, Guo M, Yo-Tsen L, Hadjivassilious M, Speziani F, Yang XL, Antonellis A, Reilly MM, Züchner S. Exome sequencing identifies a significant variant in methionyl-tRNA synthetase (MARS) in a family with late-onset CMT2. Journal of Neurology, Neurosurgery, and Psychiatry. 84: 1247-9. PMID 23729695 DOI: 10.1136/Jnnp-2013-305049 |
0.323 |
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| 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 |
0.338 |
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| 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 |
0.472 |
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| 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 |
0.432 |
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| 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 |
0.334 |
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| 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 |
0.411 |
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| 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 |
0.361 |
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| 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 |
0.464 |
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| 2013 |
Oates E, Rosser A, Hafezparast M, Lek M, Scoto M, Greensmith L, Auer-Grumbach M, Schule R, Herrmann D, Clarke N, MacArthur D, Züchner S, Muntoni F, Reilly M, North K. O.10 Mutations in a new dynein/dynactin adaptor gene cause Dominant Congenital Spinal Muscular Atrophy (DCSMA) and Hereditary Spastic Paraplegia (HSP) Neuromuscular Disorders. 23: 798. DOI: 10.1016/J.Nmd.2013.06.560 |
0.408 |
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| 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 |
0.363 |
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| 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 |
0.424 |
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| 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 |
0.334 |
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| 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 |
0.304 |
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| 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 |
0.33 |
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| 2012 |
Vance J, Bademci G, Nuytemans K, Beecham G, Edwards Y, Singer C, Nahab F, Rhodes S, Ritz B, Zuchner S, Haines J, Scott W. Identification of Rare Variants in Parkinson Disease Using Next-Generation Sequencing (S22.007) Neurology. 78: S22.007-S22.007. DOI: 10.1212/Wnl.78.1_Meetingabstracts.S22.007 |
0.333 |
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| 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 |
0.467 |
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| 2012 |
Siskind C, Feely S, Burns J, Zuchner S, Pareyson D, Herrmann D, Scherer S, Bird T, Lloyd T, Sumner C, Croker S, Krischer J, Muntoni F, Finkel R, Neal S, et al. Update - Inherited Neuropathies Consortium (P05.144) Neurology. 78: P05.144-P05.144. DOI: 10.1212/Wnl.78.1_Meetingabstracts.P05.144 |
0.322 |
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| 2012 |
Siskind C, Speziani F, Gonzalez M, Blanton S, Shy M, Zuchner S. Exome Sequencing Identifies a New Locus for DI-CMT (P05.143) Neurology. 78: P05.143-P05.143. DOI: 10.1212/Wnl.78.1_Meetingabstracts.P05.143 |
0.452 |
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| 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 |
0.322 |
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| 2012 |
Haines J, Naj A, Kohli M, Hamilton-Nelson K, Rajbhandary R, Whitehead PL, Carney R, Crocco E, Wright C, Beecham G, Martin E, Gilbert J, Zuchner S, Pericak-Vance M, Levin B. O5-03-01: Deep resequencing of 9 confirmed late-onset Alzheimer's disease (LOAD) loci identifies multiple genomic regions with potentially functional variants Alzheimer's & Dementia. 8: P734-P735. DOI: 10.1016/J.Jalz.2012.05.1981 |
0.315 |
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| 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 |
0.383 |
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| 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 |
0.373 |
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| 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 |
0.466 |
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| 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 |
0.423 |
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| 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 |
0.433 |
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| 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 |
0.441 |
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| 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 |
0.377 |
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| 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 |
0.444 |
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| 2010 |
Sirmaci A, Erbek S, Price J, Huang M, Duman D, Cengiz FB, Bademci G, Tokgöz-Yilmaz S, Hişmi B, Ozdağ H, Oztürk B, Kulaksizoğlu 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 |
0.388 |
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| 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 |
0.479 |
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| 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 |
0.458 |
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| 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 |
0.333 |
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| 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 |
0.482 |
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| 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 |
0.462 |
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| 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 |
0.32 |
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| 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 |
0.403 |
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| 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 |
0.478 |
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| 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 |
0.431 |
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| 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 |
0.373 |
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| 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 |
0.393 |
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| 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 |
0.395 |
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| 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 |
0.424 |
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| 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 |
0.341 |
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| 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 |
0.355 |
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| 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 |
0.42 |
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| 2003 |
Züchner S, Sperfeld AD, Senderek J, Sellhaus B, Hanemann CO, Schröder JM. A novel nonsense mutation in the ABC1 gene causes a severe syringomyelia-like phenotype of Tangier disease. Brain : a Journal of Neurology. 126: 920-7. PMID 12615648 DOI: 10.1093/brain/awg074 |
0.409 |
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| 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 |
0.452 |
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| 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 |
0.462 |
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