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  • Stephan L Zuchner
Article

Disruptive SCYL1 Mutations Underlie a Syndrome Characterized by Recurrent Episodes of Liver Failure, Peripheral Neuropathy, Cerebellar Atrophy, and Ataxia

Schmidt, W. M., Rutledge, S. L., Schüle, R., Mayerhofer, B., Züchner, S., Boltshauser, E. & Bittner, R. E., Dec 3 2015, In : American journal of human genetics. 97, 6, p. 855-861 7 p.

Research output: Contribution to journalArticle

28 Scopus citations

Do Not Trust the Pedigree: Reduced and Sex-Dependent Penetrance at a Novel Mutation Hotspot in ATL1 Blurs Autosomal Dominant Inheritance of Spastic Paraplegia

Varga, R. E., Schüle, R., Fadel, H., Valenzuela, I., Speziani, F., Gonzalez, M., Rudenskaia, G., Nürnberg, G., Thiele, H., Altmüller, J., Alvarez, V., Gamez, J., Garbern, J. Y., Nürnberg, P., Zuchner, S. & Beetz, C., Jun 1 2013, In : Human mutation. 34, 6, p. 860-863 4 p.

Research output: Contribution to journalArticle

16 Scopus citations

Doublet-Mediated DNA Rearrangement—A Novel and Potentially Underestimated Mechanism for the Formation of Recurrent Pathogenic Deletions

Jahic, A., Hinreiner, S., Emberger, W., Hehr, U., Zuchner, S. L. & Beetz, C., Mar 1 2017, In : Human Mutation. 38, 3, p. 275-278 4 p.

Research output: Contribution to journalArticle

dSarm/Sarm1 is required for activation of an injury-induced axon death pathway

Osterloh, J. M., Yang, J., Rooney, T. M., Fox, A. N., Adalbert, R., Powell, E. H., Sheehan, A. E., Avery, M. A., Hackett, R., Logan, M. A., MacDonald, J. M., Ziegenfuss, J. S., Milde, S., Hou, Y. J., Nathan, C., Ding, A., Brown, R. H., Conforti, L., Coleman, M., Tessier-Lavigne, M. & 2 others, Züchner, S. & Freeman, M. R., Jul 27 2012, In : Science. 337, 6093, p. 481-484 4 p.

Research output: Contribution to journalArticle

256 Scopus citations

Electrophysiologic features of SYT2 mutations causing a treatable neuromuscular syndrome

Whittaker, R. G., Herrmann, D. N., Bansagi, B., Hasan, B. A. S., Lofra, R. M., Logigian, E. L., Sowden, J. E., Almodovar, J. L., Littleton, J. T., Zuchner, S., Horvath, R. & Lochmüller, H., Dec 1 2015, In : Neurology. 85, 22, p. 1964-1971 8 p.

Research output: Contribution to journalArticle

27 Scopus citations

Erratum: Synaptotagmin 2 mutations cause an autosomal-dominant form of lambert-eaton myasthenic syndrome and nonprogressive motor neuropathy (The American Journal of Human Genetics (2014) 95 (332-339))

Herrmann, D. N., Horvath, R., Sowden, J. E., Gonzalez, M., Sanchez-Mejias, A., Guan, Z., Whittaker, R. G., Almodovar, J. L., Lane, M., Bansagi, B., Pyle, A., Boczonadi, V., Lochmüller, H., Griffin, H., Chinnery, P. F., Lloyd, T. E., Littleton, J. T. & Zuchner, S. L., Jan 1 2014, In : American Journal of Human Genetics. 95, 4

Research output: Contribution to journalArticle

Evaluating pathogenicity of rare variants from dilated cardiomyopathy in the exome era

Norton, N., Robertson, P. D., Rieder, M. J., Züchner, S., Rampersaud, E., Martin, E., Li, D., Nickerson, D. A. & Hershberger, R. E., Apr 1 2012, In : Circulation: Cardiovascular Genetics. 5, 2, p. 167-174 8 p.

Research output: Contribution to journalArticle

87 Scopus citations

Exome sequencing allows for rapid gene identification in a Charcot-Marie-Tooth family

Montenegro, G., Powell, E., Huang, J., Speziani, F., Edwards, Y. J. K., Beecham, G., Hulme, W., Siskind, C., Vance, J., Shy, M. & Züchner, S., Mar 1 2011, In : Annals of neurology. 69, 3, p. 464-470 7 p.

Research output: Contribution to journalArticle

95 Scopus citations

Exome sequencing and genome-wide linkage analysis in 17 families illustrate the complex contribution of TTN truncating variants to dilated cardiomyopathy

Norton, N., Li, D., Rampersaud, E., Morales, A., Martin, E. R., Zuchner, S., Guo, S., Gonzalez, M., Hedges, D. J., Robertson, P. D., Krumm, N., Nickerson, D. A. & Hershberger, R. E., Apr 1 2013, In : Circulation: Cardiovascular Genetics. 6, 2, p. 144-153 10 p.

Research output: Contribution to journalArticle

70 Scopus citations

Exome sequencing identifies a significant variant in methionyl-tRNA synthetase (MARS) in a family with late-onset CMT2

Gonzalez, M., McLaughlin, H., Houlden, H., Guo, M., Liu, Y. T., Hadjivassilious, M., Speziani, F., Yang, X. L., Antonellis, A., Reilly, M. M. & Züchner, S., Nov 2013, In : Journal of Neurology, Neurosurgery and Psychiatry. 84, 11, p. 1247-1249 3 p.

Research output: Contribution to journalArticle

70 Scopus citations

Exome sequencing in amyotrophic lateral sclerosis implicates a novel gene, DNAJC7, encoding a heat-shock protein

ALSGENS Consortium, FALS Consortium, Project MinE Consortium & CReATe Consortium, Dec 1 2019, In : Nature Neuroscience. 22, 12, p. 1966-1974 9 p.

Research output: Contribution to journalArticle

7 Scopus citations

Extended phenotypic spectrum of KIF5A mutations: From spastic paraplegia to axonal neuropathy

Liu, Y. T., Laurá, M., Hersheson, J., Horga, A., Jaunmuktane, Z., Brandner, S., Pittman, A., Hughes, D., Polke, J. M., Sweeney, M. G., Proukakis, C., Janssen, J. C., Auer-Grumbach, M., Zuchner, S., Shields, K. G., Reilly, M. M. & Houlden, H., 2014, In : Neurology. 83, 7, p. 612-619 8 p.

Research output: Contribution to journalArticle

55 Scopus citations

FAHN/SPG35: A narrow phenotypic spectrum across disease classifications

Rattay, T. W., Lindig, T., Baets, J., Smets, K., Deconinck, T., Söhn, A. S., Hörtnagel, K., Eckstein, K. N., Wiethoff, S., Reichbauer, J., Döbler-Neumann, M., Krägeloh-Mann, I., Auer-Grumbach, M., Plecko, B., Münchau, A., Wilken, B., Janauschek, M., Giese, A. K., De Bleecker, J. L., Ortibus, E. & 10 others, Debyser, M., Lopez De Munain, A., Pujol, A., Bassi, M. T., D'Angelo, M. G., De Jonghe, P., Züchner, S., Bauer, P., Schöls, L. & Schüle, R., Jun 1 2019, In : Brain. 142, 6, p. 1561-1572 12 p.

Research output: Contribution to journalArticle

4 Scopus citations

First de novo KCND3 mutation causes severe Kv4.3 channel dysfunction leading to early onset cerebellar ataxia, intellectual disability, oral apraxia and epilepsy

Smets, K., Duarri, A., Deconinck, T., Ceulemans, B., van de Warrenburg, B. P., Züchner, S., Gonzalez, M. A., Schüle, R., Synofzik, M., Van der Aa, N., De Jonghe, P., Verbeek, D. S. & Baets, J., Jul 21 2015, In : BMC medical genetics. 16, 1, 51.

Research output: Contribution to journalArticle

28 Scopus citations

GDAP2 mutations implicate susceptibility to cellular stress in a new form of cerebellar ataxia

Eidhof, I., Baets, J., Kamsteeg, E. J., Deconinck, T., Van Ninhuijs, L., Martin, J. J., Schüle, R., Züchner, S., De Jonghe, P., Schenck, A. & Van De Warrenburg, B. P., Sep 1 2018, In : Brain. 141, 9, p. 2592-2604 13 p.

Research output: Contribution to journalArticle

2 Scopus citations

Genetic and clinical characteristics of NEFL-Related Charcot-Marie-Tooth disease

Horga, A., Laurà, M., Jaunmuktane, Z., Jerath, N. U., Gonzalez, M. A., Polke, J. M., Poh, R., Blake, J. C., Liu, Y. T., Wiethoff, S., Bettencourt, C., Lunn, M. P. T., Manji, H., Hanna, M. G., Houlden, H., Brandner, S., Züchner, S., Shy, M. & Reilly, M. M., Jul 2017, In : Journal of Neurology, Neurosurgery and Psychiatry. 88, 7, p. 575-585 11 p.

Research output: Contribution to journalArticle

10 Scopus citations

Genetic background of the hereditary spastic paraplegia phenotypes in Hungary - An analysis of 58 probands

Balicza, P., Grosz, Z., Gonzalez, M. A., Bencsik, R., Pentelenyi, K., Gal, A., Varga, E., Klivenyi, P., Koller, J., Zuchner, S. L. & Molnar, J. M., May 15 2016, In : Journal of the Neurological Sciences. 364, p. 116-121 6 p.

Research output: Contribution to journalArticle

14 Scopus citations

Genetic compensation in a stable slc25a46 mutant zebrafish: A case for using F0 CRISPR mutagenesis to study phenotypes caused by inherited disease

Buglo, E., Sarmiento, E., Martuscelli, N. B., Sant, D. W., Danzi, M. C., Abrams, A. J., Dallman, J. E. & Züchner, S., 2020, In : PloS one. 15, 3, e0230566.

Research output: Contribution to journalArticle

Open Access

GEnomes Management Application (GEM.app): A New Software Tool for Large-Scale Collaborative Genome Analysis

Gonzalez, M. A., Lebrigio, R. F. A., Van Booven, D., Ulloa, R. H., Powell, E., Speziani, F., Tekin, M., Schüle, R. & Züchner, S., Jun 1 2013, In : Human mutation. 34, 6, p. 842-846 5 p.

Research output: Contribution to journalArticle

60 Scopus citations

Genome-wide Analyses Identify KIF5A as a Novel ALS Gene

ITALSGEN Consortium, Genomic Translation for ALS Care (GTAC) Consortium, ALS Sequencing Consortium, NYGC ALS Consortium, Answer ALS Foundation, Clinical Research in ALS and Related Disorders for Therapeutic Development (CReATe) Consortium, SLAGEN Consortium, French ALS Consortium & Project MinE ALS Sequencing Consortium, Mar 21 2018, In : Neuron. 97, 6, p. 1268-1283.e6

Research output: Contribution to journalArticle

102 Scopus citations

Genome-wide studies of copy number variation and exome sequencing identify rare variants in BAG3 as a cause of dilated cardiomyopathy

Norton, N., Li, D., Rieder, M. J., Siegfried, J. D., Rampersaud, E., Züchner, S., Mangos, S., Gonzalez-Quintana, J., Wang, L., McGee, S., Reiser, J., Martin, E., Nickerson, D. A. & Hershberger, R. E., Mar 11 2011, In : American journal of human genetics. 88, 3, p. 273-282 10 p.

Research output: Contribution to journalArticle

208 Scopus citations

Glutathione S-Transferase Regulates Mitochondrial Populations in Axons through Increased Glutathione Oxidation

Smith, G. A., Lin, T. H., Sheehan, A. E., Van der Goes van Naters, W., Neukomm, L. J., Graves, H. K., Bis-Brewer, D. M., Züchner, S. & Freeman, M. R., Jul 3 2019, In : Neuron. 103, 1, p. 52-65.e6

Research output: Contribution to journalArticle

Open Access
5 Scopus citations

Haplotype-specific modulation of a SOX10/CREB response element at the Charcot-Marie-Tooth disease type 4C locus SH3TC2

Brewer, M. H. W., Ma, K. H. W., Beecham, G. W., Gopinath, C., Baas, F., Choi, B. O., Reilly, M. M., Shy, M. E., Zuchner, S. L., Svaren, J. & Antonellis, A., Oct 1 2014, In : Human Molecular Genetics. 23, 19, p. 5171-5187 17 p.

Research output: Contribution to journalArticle

17 Scopus citations

Hereditary spastic paraplegia: Clinicogenetic lessons from 608 patients

Schüle, R., Wiethoff, S., Martus, P., Karle, K. N., Otto, S., Klebe, S., Klimpe, S., Gallenmüller, C., Kurzwelly, D., Henkel, D., Rimmele, F., Stolze, H., Kohl, Z., Kassubek, J., Klockgether, T., Vielhaber, S., Kamm, C., Klopstock, T., Bauer, P., Züchner, S. & 2 others, Liepelt-Scarfone, I. & Schöls, L., Apr 1 2016, In : Annals of neurology. 79, 4, p. 646-658 13 p.

Research output: Contribution to journalArticle

75 Scopus citations

Hereditary spastic paraplegia is a novel phenotype for germline de novo ATP1A1 mutation

Stregapede, F., Travaglini, L., Rebelo, A. P., Cintra, V. P., Bellacchio, E., Bosco, L., Alfieri, P., Pro, S., Zuchner, S., Bertini, E. & Nicita, F., Mar 1 2020, In : Clinical Genetics. 97, 3, p. 521-526 6 p.

Research output: Contribution to journalArticle

Hereditary spastic paraplegia Type 43 (SPG43) is caused by mutation in C19orf12

Landouré, G., Zhu, P. P., Lourenço, C. M., Johnson, J. O., Toro, C., Bricceno, K. V., Rinaldi, C., Meilleur, K. G., Sangaré, M., Diallo, O., Pierson, T. M., Ishiura, H., Tsuji, S., Hein, N., Fink, J. K., Stoll, M., Nicholson, G., Gonzalez, M. A., Speziani, F., Dürr, A. & 11 others, Stevanin, G., Biesecker, L. G., Accardi, J., Landis, D. M. D., Gahl, W. A., Traynor, B. J., Marques, W., Züchner, S., Blackstone, C., Fischbeck, K. H. & Burnett, B. G., Oct 1 2013, In : Human mutation. 34, 10, p. 1357-1360 4 p.

Research output: Contribution to journalArticle

46 Scopus citations

Hereditary spastic paraplegia type 5: Natural history, biomarkers and a randomized controlled trial

Schöls, L., Rattay, T. W., Martus, P., Meisner, C., Baets, J., Fischer, I., Jägle, C., Fraidakis, M. J., Martinuzzi, A., Saute, J. A., Scarlato, M., Antenora, A., Stendel, C., Höflinger, P., Lourenco, C. M., Abreu, L., Smets, K., Paucar, M., Deconinck, T., Bis, D. M. & 14 others, Wiethoff, S., Bauer, P., Arnoldi, A., Marques, W., Jardim, L. B., Hauser, S., Criscuolo, C., Filla, A., Züchner, S., Bassi, M. T., Klopstock, T., De Jonghe, P., Björkhem, I. & Schüle, R., Dec 1 2017, In : Brain. 140, 12, p. 3112-3127 16 p.

Research output: Contribution to journalArticle

29 Scopus citations
12 Scopus citations

Hypomorphic mutations in POLR3A are a frequent cause of sporadic and recessive spastic ataxia

Minnerop, M., Kurzwelly, D., Wagner, H., Soehn, A. S., Reichbauer, J., Tao, F., Rattay, T. W., Peitz, M., Rehbach, K., Giorgetti, A., Pyle, A., Thiele, H., Altmüller, J., Timmann, D., Karaca, I., Lennarz, M., Baets, J., Hengel, H., Synofzik, M., Atasu, B. & 36 others, Feely, S., Kennerson, M., Stendel, C., Lindig, T., Gonzalez, M. A., Stirnberg, R., Sturm, M., Roeske, S., Jung, J., Bauer, P., Lohmann, E., Herms, S., Heilmann-Heimbach, S., Nicholson, G., Mahanjah, M., Sharkia, R., Carloni, P., Brüstle, O., Klopstock, T., Mathews, K. D., Shy, M. E., De Jonghe, P., Chinnery, P. F., Horvath, R., Kohlhase, J., Schmitt, I., Wolf, M., Greschus, S., Amunts, K., Maier, W., Schöls, L., Nürnberg, P., Zuchner, S., Klockgether, T., Ramirez, A. & Schüle, R., 2017, In : Brain. 140, 6, p. 1561-1578 18 p.

Research output: Contribution to journalArticle

24 Scopus citations

Identification of a new SYT2 variant validates an unusual distal motor neuropathy phenotype

Montes-Chinea, N. I., Guan, Z., Coutts, M., Vidal, C., Courel, S., Rebelo, A. P., Abreu, L., Zuchner, S., Troy Littleton, J. & Saporta, M. A., Dec 1 2018, In : Neurology: Genetics. 4, 6, e282.

Research output: Contribution to journalArticle

1 Scopus citations

Identification of compound heterozygous variants in OPTN in an ALS-FTD patient from the CReATe consortium: a case report

Pottier, C., Rampersaud, E., Baker, M., Wu, G., Wuu, J., McCauley, J. L., Zuchner, S., Schule, R., Bermudez, C., Hussain, S., Cooley, A., Wallace, M., Zhang, J., Taylor, J. P., Benatar, M. & Rademakers, R., Mar 20 2018, (Accepted/In press) In : Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration. p. 1-3 3 p.

Research output: Contribution to journalArticle

2 Scopus citations

Impaired function is a common feature of neuropathy-associated glycyl-tRNA synthetase mutations

Griffin, L. B., Sakaguchi, R., Mcguigan, D., Gonzalez, M. A., Searby, C., Züchner, S., Hou, Y. M. & Antonellis, A., Nov 1 2014, In : Human mutation. 35, 11, p. 1363-1371 9 p.

Research output: Contribution to journalArticle

35 Scopus citations

Improved coverage and accuracy with strand-conserving sequence enrichment

Guettouche, T. & Zuchner, S., May 29 2013, In : Genome Medicine. 5, 5, 46.

Research output: Contribution to journalArticle

1 Scopus citations

Innovative Genomic Collaboration Using the GENESIS (GEM.app) Platform

Gonzalez, M., Falk, M. J., Gai, X., Postrel, R., Schüle, R. & Zuchner, S., Oct 1 2015, In : Human mutation. 36, 10, p. 950-956 7 p.

Research output: Contribution to journalArticle

42 Scopus citations

Insights into the genotype-phenotype correlation and molecular function of SLC25A46

Abrams, A. J., Fontanesi, F., Tan, N. B. L., Buglo, E., Campeanu, I. J., Rebelo, A. P., Kornberg, A. J., Phelan, D. G., Stark, Z. & Zuchner, S. L., Jan 1 2018, (Accepted/In press) In : Human Mutation.

Research output: Contribution to journalArticle

7 Scopus citations

Insights into the pathogenesis of ATP1A1-related CMT disease using patient-specific iPSCs

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., Dec 1 2019, In : Journal of the Peripheral Nervous System. 24, 4, p. 330-339 10 p.

Research output: Contribution to journalArticle

Inverted formin 2-related Charcot-Marie-Tooth disease: Extension of the mutational spectrum and pathological findings in Schwann cells and axons

Roos, A., Weis, J., Korinthenberg, R., Fehrenbach, H., Häusler, M., Zuchner, S. L., Mache, C., Hubmann, H., Auer-Grumbach, M. & Senderek, J., Mar 1 2015, In : Journal of the Peripheral Nervous System. 20, 1, p. 52-59 8 p.

Research output: Contribution to journalArticle

12 Scopus citations

In vivo electroporation and non-protein based screening assays to identify antibodies against native protein conformations

Daftarian, P., Chowdhury, R., Ames, P., Wei, C., King, A. D., De Rivero Vaccari, J. P., Dillon, L., Price, J., Leung, H., Ashlock, B., Mesri, E., Perez, V., Züchner, S., Reiser, J., Lemmon, V. & Keane, R. W., Oct 1 2011, In : Hybridoma. 30, 5, p. 409-418 10 p.

Research output: Contribution to journalArticle

5 Scopus citations

KIAA1462, a coronary artery disease associated gene, is a candidate gene for late onset Alzheimer disease in APOE carriers

Murdock, D. G., Bradford, Y., Schnetz-Boutaud, N., Mayo, P., Allen, M. J., D'Aoust, L. N., Liang, X., Mitchell, S. L., Zuchner, S., Small, G. W., Gilbert, J. R., Pericak-Vance, M. A. & Haines, J. L., Dec 12 2013, In : PloS one. 8, 12, e82194.

Research output: Contribution to journalArticle

7 Scopus citations
6 Scopus citations

Loss of AP-5 results in accumulation of aberrant endolysosomes: Defining a new type of lysosomal storage disease

Hirst, J., Edgar, J. R., Esteves, T., Darios, F., Madeo, M., Chang, J., Roda, R. H., Dürr, A., Anheim, M., Gellera, C., Li, J., Züchner, S., Mariotti, C., Stevanin, G., Blackstone, C., Kruer, M. C. & Robinson, M. S., 2015, In : Human molecular genetics. 24, 17, p. 4984-4996 13 p.

Research output: Contribution to journalArticle

42 Scopus citations

Loss of association of REEP2 with membranes leads to hereditary spastic paraplegia

Esteves, T., Durr, A., Mundwiller, E., Loureiro, J. L., Boutry, M., Gonzalez, M. A., Gauthier, J., El-Hachimi, K. H., Depienne, C., Muriel, M. P., Acosta Lebrigio, R. F., Gaussen, M., Noreau, A., Speziani, F., Dionne-Laporte, A., Deleuze, J. F., Dion, P., Coutinho, P., Rouleau, G. A., Zuchner, S. & 3 others, Brice, A., Stevanin, G. & Darios, F., Feb 6 2014, In : American journal of human genetics. 94, 2, p. 268-277 10 p.

Research output: Contribution to journalArticle

43 Scopus citations

Loss of function mutations in HARS cause a spectrum of inherited peripheral neuropathies

Safka Brozkova, D., Deconinck, T., Beth Griffin, L., Ferbert, A., Haberlova, J., Mazanec, R., Lassuthova, P., Roth, C., Pilunthanakul, T., Rautenstrauss, B., Janecke, A. R., Zavadakova, P., Chrast, R., Rivolta, C., Zuchner, S., Antonellis, A., Beg, A. A., De Jonghe, P., Senderek, J., Seeman, P. & 1 others, Baets, J., Aug 1 2015, In : Brain. 138, 8, p. 2161-2172 12 p.

Research output: Contribution to journalArticle

35 Scopus citations

Loss-of-function mutations in HINT1 cause axonal neuropathy with neuromyotonia

Zimoń, M., Baets, J., Almeida-Souza, L., De Vriendt, E., Nikodinovic, J., Parman, Y., Battaloǧlu, E., Matur, Z., Guergueltcheva, V., Tournev, I., Auer-Grumbach, M., De Rijk, P., Petersen, B. S., Müller, T., Fransen, E., Van Damme, P., Löscher, W. N., Bariši, N., Mitrovic, Z., Previtali, S. C. & 17 others, Topaloǧlu, H., Bernert, G., Beleza-Meireles, A., Todorovic, S., Savic-Pavicevic, D., Ishpekova, B., Lechner, S., Peeters, K., Ooms, T., Hahn, A. F., Züchner, S., Timmerman, V., Van Dijck, P., Rasic, V. M., Janecke, A. R., De Jonghe, P. & Jordanova, A., Oct 1 2012, In : Nature genetics. 44, 10, p. 1080-1083 4 p.

Research output: Contribution to journalArticle

67 Scopus citations

Loss-of-function mutations in the ATP13A2/PARK9 gene cause complicated hereditary spastic paraplegia (SPG78)

Estrada-Cuzcano, A., Martin, S., Chamova, T., Synofzik, M., Timmann, D., Holemans, T., Andreeva, A., Reichbauer, J., De Rycke, R., Chang, D. I., Van Veen, S., Samuel, J., Schöls, L., Pöppel, T., Sørensen, D. M., Asselbergh, B., Klein, C., Zuchner, S., Jordanova, A., Vangheluwe, P. & 2 others, Tournev, I. & Schüle, R., 2017, In : Brain. 140, 2, p. 287-305 19 p.

Research output: Contribution to journalArticle

50 Scopus citations

Loss of function of glucocerebrosidase GBA2 is responsible for motor neuron defects in hereditary spastic paraplegia

Martin, E., Schüle, R., Smets, K., Rastetter, A., Boukhris, A., Loureiro, J. L., Gonzalez, M. A., Mundwiller, E., Deconinck, T., Wessner, M., Jornea, L., Oteyza, A. C., Durr, A., Martin, J. J., Schöls, L., Mhiri, C., Lamari, F., Züchner, S., De Jonghe, P., Kabashi, E. & 2 others, Brice, A. & Stevanin, G., Feb 7 2013, In : American journal of human genetics. 92, 2, p. 238-244 7 p.

Research output: Contribution to journalArticle

99 Scopus citations

Lysosomal Storage and Albinism Due to Effects of a De Novo CLCN7 Variant on Lysosomal Acidification

Undiagnosed Diseases Network, Jun 6 2019, In : American journal of human genetics. 104, 6, p. 1127-1138 12 p.

Research output: Contribution to journalArticle

5 Scopus citations

Magnetic Resonance Imaging characteristics in case of TOR1AIP1 muscular dystrophy

Undiagnosed Diseases Network (UDN) & Members of the Undiagnosed Diseases Network, Nov 1 2019, In : Clinical Imaging. 58, p. 108-113 6 p.

Research output: Contribution to journalArticle

MFN2-associated lipomatosis: Clinical spectrum and impact on adipose tissue

Capel, E., Vatier, C., Cervera, P., Stojkovic, T., Disse, E., Cottereau, A. S., Auclair, M., Verpont, M. C., Mosbah, H., Gourdy, P., Barraud, S., Miquel, A., Züchner, S., Bonnefond, A., Froguel, P., Christin-Maitre, S., Delemer, B., Fève, B., Laville, M., Robert, J. & 4 others, Tenenbaum, F., Lascols, O., Vigouroux, C. & Jéru, I., Nov 1 2018, In : Journal of Clinical Lipidology. 12, 6, p. 1420-1435 16 p.

Research output: Contribution to journalArticle

7 Scopus citations

Modifier gene candidates in charcot-marie-tooth disease type 1A: A case-only genome-wide association study

Tao, F., Beecham, G. W., Rebelo, A. P., Blanton, S. H., Moran, J. J., Lopez-Anido, C., Svaren, J., Abreu, L., Rizzo, D., Kirk, C. A., Wu, X., Feely, S., Verhamme, C., Saporta, M. A., Herrmann, D. N., Day, J. W., Sumner, C. J., Lloyd, T. E., Li, J., Yum, S. W. & 8 others, Taroni, F., Baas, F., Choi, B. O., Pareyson, D., Scherer, S. S., Reilly, M. M., Shy, M. E. & Züchner, S., 2019, In : Journal of neuromuscular diseases. 6, 2, p. 201-211 11 p.

Research output: Contribution to journalArticle

1 Scopus citations