| Year |
Citation |
Score |
| 2025 |
Nguyen TB, Miramontes R, Chillon-Marinas C, Maimon R, Vazquez-Sanchez S, Lau AL, McClure NR, Wu Z, Wang KQ, England WE, Singha M, Stocksdale JT, Heath M, Jang KH, Jung S, ... ... Lagier-Tourenne C, et al. Aberrant splicing in Huntington's disease accompanies disrupted TDP-43 activity and altered m6A RNA modification. Nature Neuroscience. PMID 39762660 DOI: 10.1038/s41593-024-01850-w |
0.313 |
|
| 2023 |
Zhou Z, Kim J, Huang AY, Nolan M, Park J, Doan R, Shin T, Miller MB, Chhouk B, Morillo K, Yeh RC, Kenny C, Neil JE, Lee CZ, Ohkubo T, ... ... Lagier-Tourenne C, et al. Somatic Mosaicism in Amyotrophic Lateral Sclerosis and Frontotemporal Dementia Reveals Widespread Degeneration from Focal Mutations. Biorxiv : the Preprint Server For Biology. PMID 38077003 DOI: 10.1101/2023.11.30.569436 |
0.35 |
|
| 2023 |
Nguyen TB, Miramontes R, Chillon-Marinas C, Maimon R, Vazquez-Sanchez S, Lau AL, McClure NR, England WE, Singha M, Stocksdale JT, Jang KH, Jung S, McKnight JI, Ho LN, Faull RLM, ... ... Lagier-Tourenne C, et al. Aberrant splicing in Huntington's disease via disrupted TDP-43 activity accompanied by altered m6A RNA modification. Biorxiv : the Preprint Server For Biology. PMID 37961595 DOI: 10.1101/2023.10.31.565004 |
0.333 |
|
| 2021 |
Sanjuan-Ruiz I, Govea-Perez N, McAlonis-Downes M, Dieterle S, Megat S, Dirrig-Grosch S, Picchiarelli G, Piol D, Zhu Q, Myers B, Lee CZ, Cleveland DW, Lagier-Tourenne C, Cruz SD, Dupuis L. Wild-type FUS corrects ALS-like disease induced by cytoplasmic mutant FUS through autoregulation. Molecular Neurodegeneration. 16: 61. PMID 34488813 DOI: 10.1186/s13024-021-00477-w |
0.368 |
|
| 2021 |
Scekic-Zahirovic J, Sanjuan-Ruiz I, Kan V, Megat S, De Rossi P, Dieterlé S, Cassel R, Jamet M, Kessler P, Wiesner D, Tzeplaeff L, Demais V, Sahadevan S, Hembach KM, Muller HP, ... ... Lagier-Tourenne C, et al. Cytoplasmic FUS triggers early behavioral alterations linked to cortical neuronal hyperactivity and inhibitory synaptic defects. Nature Communications. 12: 3028. PMID 34021132 DOI: 10.1038/s41467-021-23187-9 |
0.31 |
|
| 2020 |
López-Erauskin J, Tadokoro T, Baughn MW, Myers B, McAlonis-Downes M, Chillon-Marinas C, Asiaban JN, Artates J, Bui AT, Vetto AP, Lee SK, Le AV, Sun Y, Jambeau M, Boubaker J, ... ... Lagier-Tourenne C, et al. ALS/FTD-Linked Mutation in FUS Suppresses Intra-axonal Protein Synthesis and Drives Disease Without Nuclear Loss-of-Function of FUS. Neuron. 106: 354. PMID 32325059 DOI: 10.1016/j.neuron.2020.04.006 |
0.307 |
|
| 2020 |
Zhu Q, Jiang J, Gendron TF, McAlonis-Downes M, Jiang L, Taylor A, Diaz Garcia S, Ghosh Dastidar S, Rodriguez MJ, King P, Zhang Y, La Spada AR, Xu H, Petrucelli L, Ravits J, ... ... Lagier-Tourenne C, et al. Reduced C9ORF72 function exacerbates gain of toxicity from ALS/FTD-causing repeat expansion in C9orf72. Nature Neuroscience. PMID 32284607 DOI: 10.1038/S41593-020-0619-5 |
0.448 |
|
| 2019 |
Bartoletti M, Bosco DA, Da Cruz S, Lagier-Tourenne C, Liachko N, Markmiller S, Webster KM, Wharton KA. Phenotypic Suppression of ALS/FTD-Associated Neurodegeneration Highlights Mechanisms of Dysfunction. The Journal of Neuroscience : the Official Journal of the Society For Neuroscience. 39: 8217-8224. PMID 31619490 DOI: 10.1523/Jneurosci.1159-19.2019 |
0.435 |
|
| 2019 |
Picchiarelli G, Demestre M, Zuko A, Been M, Higelin J, Dieterlé S, Goy MA, Mallik M, Sellier C, Scekic-Zahirovic J, Zhang L, Rosenbohm A, Sijlmans C, Aly A, Mersmann S, ... ... Lagier-Tourenne C, et al. FUS-mediated regulation of acetylcholine receptor transcription at neuromuscular junctions is compromised in amyotrophic lateral sclerosis. Nature Neuroscience. PMID 31591561 DOI: 10.1038/S41593-019-0498-9 |
0.425 |
|
| 2019 |
Nussbacher JK, Tabet R, Yeo GW, Lagier-Tourenne C. Disruption of RNA Metabolism in Neurological Diseases and Emerging Therapeutic Interventions. Neuron. 102: 294-320. PMID 30998900 DOI: 10.1016/J.Neuron.2019.03.014 |
0.379 |
|
| 2019 |
Ling SC, Dastidar SG, Tokunaga S, Ho WY, Lim K, Ilieva H, Parone PA, Tyan SH, Tse TM, Chang JC, Platoshyn O, Bui NB, Bui A, Vetto A, Sun S, ... ... Lagier-Tourenne C, et al. Overriding FUS autoregulation in mice triggers gain-of-toxic dysfunctions in RNA metabolism and autophagy-lysosome axis. Elife. 8. PMID 30747709 DOI: 10.7554/Elife.40811 |
0.464 |
|
| 2019 |
Melamed Z, López-Erauskin J, Baughn MW, Zhang O, Drenner K, Sun Y, Freyermuth F, McMahon MA, Beccari MS, Artates JW, Ohkubo T, Rodriguez M, Lin N, Wu D, Bennett CF, ... ... Lagier-Tourenne C, et al. Premature polyadenylation-mediated loss of stathmin-2 is a hallmark of TDP-43-dependent neurodegeneration. Nature Neuroscience. PMID 30643298 DOI: 10.1038/S41593-018-0293-Z |
0.423 |
|
| 2018 |
López-Erauskin J, Tadokoro T, Baughn MW, Myers B, McAlonis-Downes M, Chillon-Marinas C, Asiaban JN, Artates J, Bui AT, Vetto AP, Lee SK, Le AV, Sun Y, Jambeau M, Boubaker J, ... ... Lagier-Tourenne C, et al. ALS/FTD-Linked Mutation in FUS Suppresses Intra-axonal Protein Synthesis and Drives Disease Without Nuclear Loss-of-Function of FUS. Neuron. PMID 30344044 DOI: 10.1016/J.Neuron.2018.09.044 |
0.422 |
|
| 2018 |
Wainger BJ, Lagier-Tourenne C. Taking on the Elephant in the Tissue Culture Room: iPSC Modeling for Sporadic ALS. Cell Stem Cell. 23: 466-467. PMID 30290176 DOI: 10.1016/J.Stem.2018.09.015 |
0.371 |
|
| 2018 |
Guo L, Kim HJ, Wang H, Monaghan J, Freyermuth F, Sung JC, O'Donovan K, Fare CM, Diaz Z, Singh N, Zhang ZC, Coughlin M, Sweeny EA, DeSantis ME, Jackrel ME, ... ... Lagier-Tourenne C, et al. Nuclear-Import Receptors Reverse Aberrant Phase Transitions of RNA-Binding Proteins with Prion-like Domains. Cell. 173: 677-692.e20. PMID 29677512 DOI: 10.1016/J.Cell.2018.03.002 |
0.351 |
|
| 2018 |
Li N, Lagier-Tourenne C. Nuclear pores: the gate to neurodegeneration. Nature Neuroscience. PMID 29371653 DOI: 10.1038/S41593-017-0066-0 |
0.312 |
|
| 2018 |
Tabet R, Schaeffer L, Freyermuth F, Jambeau M, Workman M, Lee CZ, Lin CC, Jiang J, Jansen-West K, Abou-Hamdan H, Désaubry L, Gendron T, Petrucelli L, Martin F, Lagier-Tourenne C. CUG initiation and frameshifting enable production of dipeptide repeat proteins from ALS/FTD C9ORF72 transcripts. Nature Communications. 9: 152. PMID 29323119 DOI: 10.1038/S41467-017-02643-5 |
0.386 |
|
| 2017 |
Gasset-Rosa F, Chillon-Marinas C, Goginashvili A, Atwal RS, Artates JW, Tabet R, Wheeler VC, Bang AG, Cleveland DW, Lagier-Tourenne C. Polyglutamine-Expanded Huntingtin Exacerbates Age-Related Disruption of Nuclear Integrity and Nucleocytoplasmic Transport. Neuron. 94: 48-57.e4. PMID 28384474 DOI: 10.1016/J.Neuron.2017.03.027 |
0.33 |
|
| 2017 |
Scekic-Zahirovic J, Oussini HE, Mersmann S, Drenner K, Wagner M, Sun Y, Allmeroth K, Dieterlé S, Sinniger J, Dirrig-Grosch S, René F, Dormann D, Haass C, Ludolph AC, Lagier-Tourenne C, et al. Motor neuron intrinsic and extrinsic mechanisms contribute to the pathogenesis of FUS-associated amyotrophic lateral sclerosis. Acta Neuropathologica. PMID 28243725 DOI: 10.1007/S00401-017-1687-9 |
0.396 |
|
| 2016 |
Jiang J, Zhu Q, Gendron TF, Saberi S, McAlonis-Downes M, Seelman A, Stauffer JE, Jafar-Nejad P, Drenner K, Schulte D, Chun S, Sun S, Ling SC, Myers B, Engelhardt J, ... ... Lagier-Tourenne C, et al. Gain of Toxicity from ALS/FTD-Linked Repeat Expansions in C9ORF72 Is Alleviated by Antisense Oligonucleotides Targeting GGGGCC-Containing RNAs. Neuron. PMID 27112497 DOI: 10.1016/J.Neuron.2016.04.006 |
0.434 |
|
| 2016 |
Zhang YJ, Gendron TF, Grima JC, Sasaguri H, Jansen-West K, Xu YF, Katzman RB, Gass J, Murray ME, Shinohara M, Lin WL, Garrett A, Stankowski JN, Daughrity L, Tong J, ... ... Lagier-Tourenne C, et al. C9ORF72 poly(GA) aggregates sequester and impair HR23 and nucleocytoplasmic transport proteins. Nature Neuroscience. PMID 26998601 DOI: 10.1038/Nn.4272 |
0.323 |
|
| 2015 |
Sun S, Sun Y, Ling SC, Ferraiuolo L, McAlonis-Downes M, Zou Y, Drenner K, Wang Y, Ditsworth D, Tokunaga S, Kopelevich A, Kaspar BK, Lagier-Tourenne C, Cleveland DW. Translational profiling identifies a cascade of damage initiated in motor neurons and spreading to glia in mutant SOD1-mediated ALS. Proceedings of the National Academy of Sciences of the United States of America. PMID 26621731 DOI: 10.1073/Pnas.1520639112 |
0.415 |
|
| 2015 |
van Blitterswijk M, Gendron TF, Baker MC, DeJesus-Hernandez M, Finch NA, Brown PH, Daughrity LM, Murray ME, Heckman MG, Jiang J, Lagier-Tourenne C, Edbauer D, Cleveland DW, Josephs KA, Parisi JE, et al. Novel clinical associations with specific C9ORF72 transcripts in patients with repeat expansions in C9ORF72. Acta Neuropathologica. PMID 26437865 DOI: 10.1007/S00401-015-1480-6 |
0.306 |
|
| 2015 |
Gendron TF, van Blitterswijk M, Bieniek KF, Daughrity LM, Jiang J, Rush BK, Pedraza O, Lucas JA, Murray ME, Desaro P, Robertson A, Overstreet K, Thomas CS, Crook JE, Castanedes-Casey M, ... ... Lagier-Tourenne C, et al. Cerebellar c9RAN proteins associate with clinical and neuropathological characteristics of C9ORF72 repeat expansion carriers. Acta Neuropathologica. 130: 559-73. PMID 26350237 DOI: 10.1007/S00401-015-1474-4 |
0.403 |
|
| 2015 |
Nussbacher JK, Batra R, Lagier-Tourenne C, Yeo GW. RNA-binding proteins in neurodegeneration: Seq and you shall receive. Trends in Neurosciences. 38: 226-36. PMID 25765321 DOI: 10.1016/J.Tins.2015.02.003 |
0.374 |
|
| 2015 |
Cirulli ET, Lasseigne BN, Petrovski S, Sapp PC, Dion PA, Leblond CS, Couthouis J, Lu YF, Wang Q, Krueger BJ, Ren Z, Keebler J, Han Y, Levy SE, Boone BE, ... ... Lagier-Tourenne C, et al. Exome sequencing in amyotrophic lateral sclerosis identifies risk genes and pathways. Science (New York, N.Y.). 347: 1436-41. PMID 25700176 DOI: 10.1126/Science.Aaa3650 |
0.385 |
|
| 2015 |
Sun S, Ling SC, Qiu J, Albuquerque CP, Zhou Y, Tokunaga S, Li H, Qiu H, Bui A, Yeo GW, Huang EJ, Eggan K, Zhou H, Fu XD, Lagier-Tourenne C, et al. ALS-causative mutations in FUS/TLS confer gain and loss of function by altered association with SMN and U1-snRNP. Nature Communications. 6: 6171. PMID 25625564 DOI: 10.1038/Ncomms7171 |
0.484 |
|
| 2014 |
Hu J, Liu J, Yu D, Aiba Y, Lee S, Pendergraff H, Boubaker J, Artates JW, Lagier-Tourenne C, Lima WF, Swayze EE, Prakash TP, Corey DR. Exploring the effect of sequence length and composition on allele-selective inhibition of human huntingtin expression by single-stranded silencing RNAs. Nucleic Acid Therapeutics. 24: 199-209. PMID 24694346 DOI: 10.1089/Nat.2013.0476 |
0.361 |
|
| 2014 |
Crotti A, Benner C, Kerman BE, Gosselin D, Lagier-Tourenne C, Zuccato C, Cattaneo E, Gage FH, Cleveland DW, Glass CK. Mutant Huntingtin promotes autonomous microglia activation via myeloid lineage-determining factors. Nature Neuroscience. 17: 513-21. PMID 24584051 DOI: 10.1038/Nn.3668 |
0.341 |
|
| 2014 |
Meyer K, Ferraiuolo L, Miranda CJ, Likhite S, McElroy S, Renusch S, Ditsworth D, Lagier-Tourenne C, Smith RA, Ravits J, Burghes AH, Shaw PJ, Cleveland DW, Kolb SJ, Kaspar BK. Direct conversion of patient fibroblasts demonstrates non-cell autonomous toxicity of astrocytes to motor neurons in familial and sporadic ALS. Proceedings of the National Academy of Sciences of the United States of America. 111: 829-32. PMID 24379375 DOI: 10.1073/Pnas.1314085111 |
0.42 |
|
| 2013 |
Lagier-Tourenne C, Baughn M, Rigo F, Sun S, Liu P, Li HR, Jiang J, Watt AT, Chun S, Katz M, Qiu J, Sun Y, Ling SC, Zhu Q, Polymenidou M, et al. Targeted degradation of sense and antisense C9orf72 RNA foci as therapy for ALS and frontotemporal degeneration. Proceedings of the National Academy of Sciences of the United States of America. 110: E4530-9. PMID 24170860 DOI: 10.1073/Pnas.1318835110 |
0.415 |
|
| 2013 |
Arnold ES, Ling SC, Huelga SC, Lagier-Tourenne C, Polymenidou M, Ditsworth D, Kordasiewicz HB, McAlonis-Downes M, Platoshyn O, Parone PA, Da Cruz S, Clutario KM, Swing D, Tessarollo L, Marsala M, et al. ALS-linked TDP-43 mutations produce aberrant RNA splicing and adult-onset motor neuron disease without aggregation or loss of nuclear TDP-43. Proceedings of the National Academy of Sciences of the United States of America. 110: E736-45. PMID 23382207 DOI: 10.1073/Pnas.1222809110 |
0.471 |
|
| 2012 |
Lagier-Tourenne C, Polymenidou M, Hutt KR, Vu AQ, Baughn M, Huelga SC, Clutario KM, Ling SC, Liang TY, Mazur C, Wancewicz E, Kim AS, Watt A, Freier S, Hicks GG, et al. Divergent roles of ALS-linked proteins FUS/TLS and TDP-43 intersect in processing long pre-mRNAs. Nature Neuroscience. 15: 1488-97. PMID 23023293 DOI: 10.1038/Nn.3230 |
0.442 |
|
| 2012 |
Polymenidou M, Lagier-Tourenne C, Hutt KR, Bennett CF, Cleveland DW, Yeo GW. Misregulated RNA processing in amyotrophic lateral sclerosis. Brain Research. 1462: 3-15. PMID 22444279 DOI: 10.1016/J.Brainres.2012.02.059 |
0.454 |
|
| 2011 |
Polymenidou M, Lagier-Tourenne C, Hutt KR, Huelga SC, Moran J, Liang TY, Ling SC, Sun E, Wancewicz E, Mazur C, Kordasiewicz H, Sedaghat Y, Donohue JP, Shiue L, Bennett CF, et al. Long pre-mRNA depletion and RNA missplicing contribute to neuronal vulnerability from loss of TDP-43. Nature Neuroscience. 14: 459-68. PMID 21358643 DOI: 10.1038/Nn.2779 |
0.416 |
|
| 2011 |
H'mida-Ben Brahim D, M'zahem A, Assoum M, Bouhlal Y, Fattori F, Anheim M, Ali-Pacha L, Ferrat F, Chaouch M, Lagier-Tourenne C, Drouot N, Thibaut C, Benhassine T, Sifi Y, Stoppa-Lyonnet D, et al. Molecular diagnosis of known recessive ataxias by homozygosity mapping with SNP arrays. Journal of Neurology. 258: 56-67. PMID 20798953 DOI: 10.1007/S00415-010-5682-5 |
0.372 |
|
| 2010 |
Assoum M, Salih MA, Drouot N, H'Mida-Ben Brahim D, Lagier-Tourenne C, AlDrees A, Elmalik SA, Ahmed TS, Seidahmed MZ, Kabiraj MM, Koenig M. Rundataxin, a novel protein with RUN and diacylglycerol binding domains, is mutant in a new recessive ataxia. Brain : a Journal of Neurology. 133: 2439-47. PMID 20826435 DOI: 10.1093/Brain/Awq181 |
0.366 |
|
| 2010 |
Lagier-Tourenne C, Cleveland DW. Neurodegeneration: An expansion in ALS genetics. Nature. 466: 1052-3. PMID 20740002 DOI: 10.1038/4661052A |
0.411 |
|
| 2010 |
Ling SC, Albuquerque CP, Han JS, Lagier-Tourenne C, Tokunaga S, Zhou H, Cleveland DW. ALS-associated mutations in TDP-43 increase its stability and promote TDP-43 complexes with FUS/TLS. Proceedings of the National Academy of Sciences of the United States of America. 107: 13318-23. PMID 20624952 DOI: 10.1073/Pnas.1008227107 |
0.441 |
|
| 2010 |
Lagier-Tourenne C, Polymenidou M, Cleveland DW. TDP-43 and FUS/TLS: emerging roles in RNA processing and neurodegeneration. Human Molecular Genetics. 19: R46-64. PMID 20400460 DOI: 10.1093/Hmg/Ddq137 |
0.464 |
|
| 2010 |
Braida C, Stefanatos RK, Adam B, Mahajan N, Smeets HJ, Niel F, Goizet C, Arveiler B, Koenig M, Lagier-Tourenne C, Mandel JL, Faber CG, de Die-Smulders CE, Spaans F, Monckton DG. Variant CCG and GGC repeats within the CTG expansion dramatically modify mutational dynamics and likely contribute toward unusual symptoms in some myotonic dystrophy type 1 patients. Human Molecular Genetics. 19: 1399-412. PMID 20080938 DOI: 10.1093/Hmg/Ddq015 |
0.379 |
|
| 2009 |
Travaglini L, Brancati F, Attie-Bitach T, Audollent S, Bertini E, Kaplan J, Perrault I, Iannicelli M, Mancuso B, Rigoli L, Rozet JM, Swistun D, Tolentino J, Dallapiccola B, Gleeson JG, ... ... Lagier-Tourenne C, et al. Expanding CEP290 mutational spectrum in ciliopathies. American Journal of Medical Genetics. Part A. 149: 2173-80. PMID 19764032 DOI: 10.1002/Ajmg.A.33025 |
0.411 |
|
| 2009 |
Lagier-Tourenne C, Cleveland DW. Rethinking ALS: the FUS about TDP-43. Cell. 136: 1001-4. PMID 19303844 DOI: 10.1016/J.Cell.2009.03.006 |
0.46 |
|
| 2009 |
Cossée M, Lagier-Tourenne C, Seguela C, Mohr M, Leturcq F, Gundesli H, Chelly J, Tranchant C, Koenig M, Mandel JL. Use of SNP array analysis to identify a novel TRIM32 mutation in limb-girdle muscular dystrophy type 2H. Neuromuscular Disorders : Nmd. 19: 255-60. PMID 19303295 DOI: 10.1016/J.Nmd.2009.02.003 |
0.421 |
|
| 2009 |
Anheim M, Lagier-Tourenne C, Stevanin G, Fleury M, Durr A, Namer IJ, Denora P, Brice A, Mandel JL, Koenig M, Tranchant C. SPG11 spastic paraplegia. A new cause of juvenile parkinsonism. Journal of Neurology. 256: 104-8. PMID 19224311 DOI: 10.1007/S00415-009-0083-3 |
0.395 |
|
| 2008 |
Lagier-Tourenne C, Tazir M, López LC, Quinzii CM, Assoum M, Drouot N, Busso C, Makri S, Ali-Pacha L, Benhassine T, Anheim M, Lynch DR, Thibault C, Plewniak F, Bianchetti L, et al. ADCK3, an ancestral kinase, is mutated in a form of recessive ataxia associated with coenzyme Q10 deficiency. American Journal of Human Genetics. 82: 661-72. PMID 18319074 DOI: 10.1016/J.Ajhg.2007.12.024 |
0.424 |
|
| 2008 |
Anheim M, Lagier-Tourenne C, Tazir M, Lopez L, Quinzii C, Drouot N, Assoum M, Makri S, Ali-Pacha L, Lynch D, Mandel J, Hirano M, Tranchant C, Koenig M. ARCA2 : une nouvelle ataxie cérébelleuse autosomique récessive liée à des mutations du gène ADCK3 Revue Neurologique. 164: 31. DOI: 10.1016/S0035-3787(08)70047-X |
0.329 |
|
| 2007 |
Dam AH, Koscinski I, Kremer JA, Moutou C, Jaeger AS, Oudakker AR, Tournaye H, Charlet N, Lagier-Tourenne C, van Bokhoven H, Viville S. Homozygous mutation in SPATA16 is associated with male infertility in human globozoospermia. American Journal of Human Genetics. 81: 813-20. PMID 17847006 DOI: 10.1086/521314 |
0.377 |
|
| 2007 |
Gribaa M, Salih M, Anheim M, Lagier-Tourenne C, H'mida D, Drouot N, Mohamed A, Elmalik S, Kabiraj M, Al-Rayess M, Almubarak M, Bétard C, Goebel H, Koenig M. A new form of childhood onset, autosomal recessive spinocerebellar ataxia and epilepsy is localized at 16q21-q23 Brain. 130: 1921-1928. PMID 17470496 DOI: 10.1093/Brain/Awm078 |
0.338 |
|
| 2006 |
Valente EM, Brancati F, Silhavy JL, Castori M, Marsh SE, Barrano G, Bertini E, Boltshauser E, Zaki MS, Abdel-Aleem A, Abdel-Salam GM, Bellacchio E, Battini R, Cruse RP, Dobyns WB, ... ... Lagier-Tourenne C, et al. AHI1 gene mutations cause specific forms of Joubert syndrome-related disorders. Annals of Neurology. 59: 527-34. PMID 16453322 DOI: 10.1002/Ana.20749 |
0.419 |
|
| 2006 |
Curbo S, Lagier-Tourenne C, Carrozzo R, Palenzuela L, Lucioli S, Hirano M, Santorelli F, Arenas J, Karlsson A, Johansson M. Human mitochondrial pyrophosphatase: cDNA cloning and analysis of the gene in patients with mtDNA depletion syndromes. Genomics. 87: 410-6. PMID 16300924 DOI: 10.1016/J.Ygeno.2005.09.017 |
0.36 |
|
| 2005 |
Anttonen AK, Mahjneh I, Hämäläinen RH, Lagier-Tourenne C, Kopra O, Waris L, Anttonen M, Joensuu T, Kalimo H, Paetau A, Tranebjaerg L, Chaigne D, Koenig M, Eeg-Olofsson O, Udd B, et al. The gene disrupted in Marinesco-Sjögren syndrome encodes SIL1, an HSPA5 cochaperone. Nature Genetics. 37: 1309-11. PMID 16282978 DOI: 10.1038/Ng1677 |
0.374 |
|
| 2005 |
Hirano M, Lagier-Tourenne C, Valentino ML, Martí R, Nishigaki Y. Thymidine phosphorylase mutations cause instability of mitochondrial DNA. Gene. 354: 152-6. PMID 15975738 DOI: 10.1016/J.Gene.2005.04.041 |
0.355 |
|
| 2004 |
Lagier-Tourenne C, Boltshauser E, Breivik N, Gribaa M, Bétard C, Barbot C, Koenig M. Homozygosity mapping of a third Joubert syndrome locus to 6q23 Journal of Medical Genetics. 41: 273-277. PMID 15060101 DOI: 10.1136/Jmg.2003.014787 |
0.324 |
|
| 2003 |
Lagier-Tourenne C, Tranebjærg L, Chaigne D, Gribaa M, Dollfus H, Silvestri G, Bétard C, Warter JM, Koenig M. Homozygosity mapping of Marinesco-Sjögren syndrome to 5q31 European Journal of Human Genetics. 11: 770-778. PMID 14512967 DOI: 10.1038/Sj.Ejhg.5201068 |
0.329 |
|
| 2003 |
Biancalana V, Caron O, Gallati S, Baas F, Kress W, Novelli G, D'Apice MR, Lagier-Tourenne C, Buj-Bello A, Romero NB, Mandel JL. Characterisation of mutations in 77 patients with X-linked myotubular myopathy, including a family with a very mild phenotype. Human Genetics. 112: 135-42. PMID 12522554 DOI: 10.1007/S00439-002-0869-1 |
0.405 |
|
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