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  • Stephan L Zuchner
2015

Alteration of ornithine metabolism leads to dominant and recessive hereditary spastic paraplegia

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., Kennerson, M., Gaussen, M., Schule, R., Janin, M., Morice-Picard, F. & 14 others, Durand, C. M., Depienne, C., Calvas, P., Coutinho, P., Saudubray, J. M., Rouleau, G., Brice, A., Nicholson, G., Darios, F., Loureiro, J. L., Zuchner, S., Ottolenghi, C., Mochel, F. & Stevanin, G., Aug 1 2015, In : Brain. 138, 8, p. 2191-2205 15 p.

Research output: Contribution to journalArticle

34 Scopus citations

Association of the Charcot-Marie-Tooth disease gene ARHGEF10 with paclitaxel induced peripheral neuropathy in NCCTG N08CA (Alliance)

Boora, G. K., Kulkarni, A. A., Kanwar, R., Beyerlein, P., Qin, R., Banck, M. S., Ruddy, K. J., Pleticha, J., Lynch, C. A., Behrens, R. J., Zuchner, S. L., Loprinzi, C. L. & Beutler, A. S., 2015, (Accepted/In press) In : Journal of the Neurological Sciences.

Research output: Contribution to journalArticle

21 Scopus citations
121 Scopus citations

De novo loss-or gain-of-function mutations in KCNA2 cause epileptic encephalopathy

Syrbe, S., Hedrich, U. B. S., Riesch, E., Djémié, T., Müller, S., Møller, R. S., Maher, B., Hernandez-Hernandez, L., Synofzik, M., Caglayan, H. S., Arslan, M., Serratosa, J. M., Nothnagel, M., May, P., Krause, R., Löffler, H., Detert, K., Dorn, T., Vogt, H., Krämer, G. & 29 others, Schöls, L., Mullis, P. E., Linnankivi, T., Lehesjoki, A. E., Sterbova, K., Craiu, D. C., Hoffman-Zacharska, D., Korff, C. M., Weber, Y. G., Steinlin, M., Gallati, S., Bertsche, A., Bernhard, M. K., Merkenschlager, A., Kiess, W., Gonzalez, M., Züchner, S., Palotie, A., Suls, A., De Jonghe, P., Helbig, I., Biskup, S., Wolff, M., Maljevic, S., Schüle, R., Sisodiya, S. M., Weckhuysen, S., Lerche, H. & Lemke, J. R., Apr 28 2015, In : Nature genetics. 47, 4, p. 393-399 7 p.

Research output: Contribution to journalArticle

118 Scopus citations

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

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

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

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

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

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 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
34 Scopus citations

Mutation screen reveals novel variants and expands the phenotypes associated with DYNC1H1

Strickland, A. V., Schabhüttl, M., Offenbacher, H., Synofzik, M., Hauser, N. S., Brunner-Krainz, M., Gruber-Sedlmayr, U., Moore, S. A., Windhager, R., Bender, B., Harms, M., Klebe, S., Young, P., Kennerson, M., Garcia, A. S. M., Gonzalez, M. A., Züchner, S., Schule, R., Shy, M. E. & Auer-Grumbach, M., Sep 22 2015, In : Journal of Neurology. 262, 9, p. 2124-2134 11 p.

Research output: Contribution to journalArticle

31 Scopus citations

Mutations in SLC25A46, encoding a UGO1-like protein, cause an optic atrophy spectrum disorder

Abrams, A. J., Hufnagel, R. B., Rebelo, A., Zanna, C., Patel, N., Gonzalez, M. A., Campeanu, I. J., Griffin, L. B., Groenewald, S., Strickland, A. V., Tao, F., Speziani, F., Abreu, L., Schüle, R., Caporali, L., La Morgia, C., Maresca, A., Liguori, R., Lodi, R., Ahmed, Z. M. & 20 others, Sund, K. L., Wang, X., Krueger, L. A., Peng, Y., Prada, C. E., Prows, C. A., Schorry, E. K., Antonellis, A., Zimmerman, H. H., Abdul-Rahman, O. A., Yang, Y., Downes, S. M., Prince, J., Fontanesi, F., Barrientos, A., Németh, A. H., Carelli, V., Huang, T., Zuchner, S. & Dallman, J. E., Aug 30 2015, In : Nature genetics. 47, 8, p. 926-932 7 p.

Research output: Contribution to journalArticle

84 Scopus citations

Phenotypic and molecular insights into spinal muscular atrophy due to mutations in BICD2

Rossor, A. M., Oates, E. C., Salter, H. K., Liu, Y., Murphy, S. M., Schule, R., Gonzalez, M. A., Scoto, M., Phadke, R., Sewry, C. A., Houlden, H., Jordanova, A., Tournev, I., Chamova, T., Litvinenko, I., Zuchner, S., Herrmann, D. N., Blake, J., Sowden, J. E., Acsadi, G. & 8 others, Rodriguez, M. L., Menezes, M. P., Clarke, N. F., Grumbach, M. A., Bullock, S. L., Muntoni, F., Reilly, M. M. & North, K. N., Feb 1 2015, In : Brain. 138, 2, p. 293-310 18 p.

Research output: Contribution to journalArticle

48 Scopus citations

Reduced neurofilament expression in cutaneous nerve fibers of patients with CMT2E

Pisciotta, C., Bai, Y., Brennan, K. M., Wu, X., Grider, T., Feely, S., Wang, S., Moore, S., Siskind, C., Gonzalez, M., Zuchner, S. L. & Shy, M. E., Jul 21 2015, In : Neurology. 85, 3, p. 228-234 7 p.

Research output: Contribution to journalArticle

11 Scopus citations

Regulation of the Epigenome by Vitamin C

Young, J., Zuchner, S. L. & Wang, G., Jul 17 2015, In : Annual Review of Nutrition. 35, 1, p. 545-564 20 p.

Research output: Contribution to journalArticle

104 Scopus citations

Reply: The p.Ser107Leu in BICD2 is a mutation 'hot spot' causing distal spinal muscular atrophy

Rossor, A. M., Oates, E. C., Salter, H. K., Liu, Y., Murphy, S. M., Schule, R., Gonzales, M. A., Scoto, M., Phadke, R., Sewry, C. A., Houlden, H., Jordanova, A., Tournev, I., Chamova, T., Litvinenko, I., Zuchner, S., Herrmann, D. N., Blake, J., Sowden, J. E., Acsadi, G. & 8 others, Rodriguez, M. L., Menezes, M. P., Clarke, N. F., Auer Grumbach, M., Bullock, S. L., Muntoni, F., Reilly, M. M. & North, K. N., Nov 2015, In : Brain. 138, 11, p. e392

Research output: Contribution to journalLetter

The Matchmaker Exchange: A Platform for Rare Disease Gene Discovery

Philippakis, A. A., Azzariti, D. R., Beltran, S., Brookes, A. J., Brownstein, C. A., Brudno, M., Brunner, H. G., Buske, O. J., Carey, K., Doll, C., Dumitriu, S., Dyke, S. O. M., den Dunnen, J. T., Firth, H. V., Gibbs, R. A., Girdea, M., Gonzalez, M., Haendel, M. A., Hamosh, A., Holm, I. A. & 18 others, Huang, L., Hurles, M. E., Hutton, B., Krier, J. B., Misyura, A., Mungall, C. J., Paschall, J., Paten, B., Robinson, P. N., Schiettecatte, F., Sobreira, N. L., Swaminathan, G. J., Taschner, P. E., Terry, S. F., Washington, N. L., Zuchner, S. L., Boycott, K. M. & Rehm, H. L., Oct 1 2015, In : Human Mutation. 36, 10, p. 915-921 7 p.

Research output: Contribution to journalArticle

175 Scopus citations
2014

Absence of BiP Co-chaperone DNAJC3 causes diabetes mellitus and multisystemic neurodegeneration

Synofzik, M., Haack, T. B., Kopajtich, R., Gorza, M., Rapaport, D., Greiner, M., Schönfeld, C., Freiberg, C., Schorr, S., Holl, R. W., Gonzalez, M. A., Fritsche, A., Fallier-Becker, P., Zimmermann, R., Strom, T. M., Meitinger, T., Züchner, S., Schüle, R., Schöls, L. & Prokisch, H., Dec 4 2014, In : American journal of human genetics. 95, 6, p. 689-697 9 p.

Research output: Contribution to journalArticle

49 Scopus citations

A C. elegans model of human α1-antitrypsin deficiency links components of the RNAi pathway to misfolded protein turnover

Long, O. S., Benson, J. A., Kwak, J. H. Y., Luke, C. J., Gosai, S. J., O'Reilly, L. P., Wang, Y., Li, J., Vetica, A. C., Miedel, M. T., Stolz, D. B., Watkins, S. C., Züchner, S., Perlmutter, D. H., Silverman, G. A. & Pak, S. C., Oct 1 2014, In : Human molecular genetics. 23, 19, p. 5109-5122 14 p.

Research output: Contribution to journalArticle

16 Scopus citations

A novel mutation in VCP causes Charcot-Marie-Tooth Type 2 disease

Gonzalez, M. A., Feely, S. M., Speziani, F., Strickland, A. V., Danzi, M., Bacon, C., Lee, Y., Chou, T. F., Blanton, S. H., Weihl, C. C., Zuchner, S. & Shy, M. E., 2014, In : Brain. 137, 11, p. 2897-2902 6 p.

Research output: Contribution to journalArticle

50 Scopus citations

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

Dolzhanskaya, N., Gonzalez, M. A., Sperziani, F., Stefl, S., Messing, J., Wen, G. Y., Alexov, E., Zuchner, S. & Velinov, M., 2014, In : Journal of Alzheimer's Disease. 39, 1, p. 23-27 5 p.

Research output: Contribution to journalArticle

12 Scopus citations

A Recurrent Loss-of-Function Alanyl-tRNA Synthetase (AARS) Mutation in Patients with Charcot-Marie-Tooth Disease Type 2N (CMT2N)

Mclaughlin, H. M., Sakaguchi, R., Giblin, W., Wilson, T. E., Biesecker, L., Lupski, J. R., Talbot, K., Vance, J. M., Züchner, S., Lee, Y. C., Kennerson, M., Hou, Y. M., Nicholson, G. & Antonellis, A., Apr 2014, In : Human mutation. 35, 4, p. 512 1 p.

Research output: Contribution to journalComment/debate

1 Scopus citations

Characterization of the mitofusin 2 R94W mutation in a knock-in mouse model

Strickland, A. V., Rebelo, A. P., Zhang, F., Price, J., Bolon, B., Silva, J. P., Wen, R. & Zuchner, S. L., Jun 1 2014, In : Journal of the Peripheral Nervous System. 19, 2, p. 152-164 13 p.

Research output: Contribution to journalArticle

22 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

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

Further evidence that DDHD2 gene mutations cause autosomal recessive hereditary spastic paraplegia with thin corpus callosum

Magariello, A., Citrigno, L., Zuchner, S., Gonzalez, M., Patitucci, A., Sofia, V., Conforti, F. L., Pappalardo, I., Mazzei, R., Ungaro, C., Zappia, M. & Muglia, M., Mar 1 2014, In : European Journal of Neurology. 21, 3, p. e25-e26

Research output: Contribution to journalLetter

9 Scopus citations

Genetics of Charcot-Marie-Tooth (CMT) disease within the frame of the human genome project success

Timmerman, V., Strickland, A. V. & Züchner, S., Mar 2014, In : Genes. 5, 1, p. 13-32 20 p.

Research output: Contribution to journalReview article

126 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

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
6 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

Motor protein mutations cause a new form of hereditary spastic paraplegia

Oteyza, A. C., Battaloǧlu, E., Ocek, L., Lindig, T., Reichbauer, J., Rebelo, A. P., Gonzalez, M. A., Zorlu, Y., Ozes, B., Timmann, D., Bender, B., Woehlke, G., Züchner, S., Schöls, L. & Schüle, R., Jun 3 2014, In : Neurology. 82, 22, p. 2007-2016 10 p.

Research output: Contribution to journalArticle

26 Scopus citations
4 Scopus citations

Parkinsonism and distinct dementia patterns in a family with the MAPT R406W mutation

Carney, R. M., Kohli, M. A., Kunkle, B. W., Naj, A. C., Gilbert, J. R., Züchner, S. & Pericak-Vance, M. A., May 2014, In : Alzheimer's and Dementia. 10, 3, p. 360-365 6 p.

Research output: Contribution to journalArticle

11 Scopus citations

Phenotype and frequency of STUB1 mutations: Next-generation screenings in Caucasian ataxia and spastic paraplegia cohorts

Synofzik, M., Schüle, R., Schulze, M., Gburek-Augustat, J., Schweizer, R., Schirmacher, A., Krägeloh-Mann, I., Gonzalez, M., Young, P., Züchner, S., Schöls, L. & Bauer, P., Apr 17 2014, In : Orphanet journal of rare diseases. 9, 1, 57.

Research output: Contribution to journalArticle

27 Scopus citations

PNPLA6 mutations cause Boucher-Neuhäuser and Gordon Holmes syndromes as part of a broad neurodegenerative spectrum

Synofzik, M., Gonzalez, M. A., Lourenco, C. M., Coutelier, M., Haack, T. B., Rebelo, A., Hannequin, D., Strom, T. M., Prokisch, H., Kernstock, C., Durr, A., Schöls, L., Lima-Martínez, M. M., Farooq, A., Schüle, R., Stevanin, G., Marques, W. & Züchner, S., Jan 2014, In : Brain. 137, 1, p. 69-77 9 p.

Research output: Contribution to journalArticle

104 Scopus citations

Pure and syndromic optic atrophy explained by deep intronic OPA1 mutations and an intralocus modifier

Bonifert, T., Karle, K. N., Tonagel, F., Batra, M., Wilhelm, C., Theurer, Y., Schoenfeld, C., Kluba, T., Kamenisch, Y., Carelli, V., Wolf, J., Gonzalez, M. A., Speziani, F., Schüle, R., Züchner, S., Schöls, L., Wissinger, B. & Synofzik, M., Aug 2014, In : Brain. 137, 8, p. 2164-2177 14 p.

Research output: Contribution to journalArticle

36 Scopus citations

Rapid in vivo forward genetic approach for identifying axon death genes in Drosophila

Neukomm, L. J., Burdett, T. C., Gonzalez, M. A., Züchner, S. & Freeman, M. R., Jul 8 2014, In : Proceedings of the National Academy of Sciences of the United States of America. 111, 27, p. 9965-9970 6 p.

Research output: Contribution to journalArticle

28 Scopus citations

Sequencing of charcot-marie-tooth disease genes in a toxic polyneuropathy

Beutler, A. S., Kulkarni, A. A., Kanwar, R., Klein, C. J., Therneau, T. M., Qin, R., Banck, M. S., Boora, G. K., Ruddy, K. J., Wu, Y., Smalley, R. L., Cunningham, J. M., Le-Lindqwister, N. A., Beyerlein, P., Schroth, G. P., Windebank, A. J., Züchner, S. & Loprinzi, C. L., Nov 1 2014, In : Annals of neurology. 76, 5, p. 727-737 11 p.

Research output: Contribution to journalArticle

47 Scopus citations

Synaptotagmin 2 mutations cause an autosomal-dominant form of lambert-eaton myasthenic syndrome and nonprogressive motor neuropathy

Herrmann, D. N., Horvath, R., Sowden, J. E., Gonzales, M., Sanchez-Mejias, A., Guan, Z., Whittaker, R. G., Almodovar, J. L., Lane, M., Bansagi, B., Pyle, A., Boczonadi, V., Lochmuller, H., Griffin, H., Chinnery, P. F., Lloyd, T. E., Troy Littleton, J. & Zuchner, S., Jan 1 2014, In : American journal of human genetics. 95, 3, p. 332-339 8 p.

Research output: Contribution to journalArticle

60 Scopus citations

Treatable childhood neuronopathy caused by mutations in riboflavin transporter RFVT2

Foley, A. R., Menezes, M. P., Pandraud, A., Gonzalez, M. A., Al-Odaib, A., Abrams, A. J., Sugano, K., Yonezawa, A., Manzur, A. Y., Burns, J., Hughes, I., McCullagh, B. G., Jungbluth, H., Lim, M. J., Lin, J. P., Megarbane, A., Urtizberea, J. A., Shah, A. H., Antony, J., Webster, R. & 34 others, Broomfield, A., Ng, J., Mathew, A. A., O'Byrne, J. J., Forman, E., Scoto, M., Prasad, M., O'Brien, K., Olpin, S., Oppenheim, M., Hargreaves, I., Land, J. M., Wang, M. X., Carpenter, K., Horvath, R., Straub, V., Lek, M., Gold, W., Farrell, M. O., Brandner, S., Phadke, R., Matsubara, K., McGarvey, M. L., Scherer, S. S., Baxter, P. S., King, M. D., Clayton, P., Rahman, S., Reilly, M. M., Ouvrier, R. A., Christodoulou, J., Züchner, S., Muntoni, F. & Houlden, H., Jan 2014, In : Brain. 137, 1, p. 44-56 13 p.

Research output: Contribution to journalArticle

85 Scopus citations

Truncating and missense mutations in IGHMBP2 cause Charcot-Marie Tooth disease type 2

Cottenie, E., Kochanski, A., Jordanova, A., Bansagi, B., Zimon, M., Horga, A., Jaunmuktane, Z., Saveri, P., Rasic, V. M., Baets, J., Bartsakoulia, M., Ploski, R., Teterycz, P., Nikolic, M., Quinlivan, R., Laura, M., Sweeney, M. G., Taroni, F., Lunn, M. P., Moroni, I. & 20 others, Gonzalez, M., Hanna, M. G., Bettencourt, C., Chabrol, E., Franke, A., Von Au, K., Schilhabel, M., Kabzińska, D., Hausmanowa-Petrusewicz, I., Brandner, S., Lim, S. C., Song, H., Choi, B. O., Horvath, R., Chung, K. W., Zuchner, S., Pareyson, D., Harms, M., Reilly, M. M. & Houlden, H., 2014, In : American journal of human genetics. 95, 5, p. 590-601 12 p.

Research output: Contribution to journalArticle

37 Scopus citations

Unraveling the genetic landscape of autosomal recessive Charcot-Marie-Tooth neuropathies using a homozygosity mapping approach

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., Van Maldergem, L., Dan, B., El-Khateeb, M. S., Guergueltcheva, V., Lopez-Laso, E. & 7 others, Goemans, N., Masri, A., Züchner, S., Timmerman, V., Topaloğlu, H., De Jonghe, P. & Jordanova, A., 2014, In : Neurogenetics. 16, 1, p. 33-42 10 p.

Research output: Contribution to journalArticle

22 Scopus citations
2013

A dominant mutation in FBXO38 causes distal spinal muscular atrophy with calf predominance

Sumner, C. J., D'Ydewalle, C., Wooley, J., Fawcett, K. A., Hernandez, D., Gardiner, A. R., Kalmar, B., Baloh, R. H., Gonzalez, M., Züchner, S., Stanescu, H. C., Kleta, R., Mankodi, A., Cornblath, D. R., Boylan, K. B., Reilly, M. M., Greensmith, L., Singleton, A. B., Harms, M. B., Rossor, A. M. & 1 others, Houlden, H., Nov 7 2013, In : American journal of human genetics. 93, 5, p. 976-983 8 p.

Research output: Contribution to journalArticle

18 Scopus citations

A Loss-of-Function Variant in the Human Histidyl-tRNA Synthetase (HARS) Gene is Neurotoxic In Vivo

Vester, A., Velez-Ruiz, G., McLaughlin, H. M., Nisc Comparative Sequencing Program, C. S. P., Lupski, J. R., Talbot, K., Vance, J. M., Züchner, S., Roda, R. H., Fischbeck, K. H., Biesecker, L. G., Nicholson, G., Beg, A. A. & Antonellis, A., Jan 1 2013, In : Human mutation. 34, 1, p. 191-199 9 p.

Research output: Contribution to journalArticle

66 Scopus citations

Alteration of ganglioside biosynthesis responsible for complex hereditary spastic paraplegia

Boukhris, A., Schule, R., Loureiro, J. L., Lourenço, C. M., Mundwiller, E., Gonzalez, M. A., Charles, P., Gauthier, J., Rekik, I., Acosta Lebrigio, R. F., Gaussen, M., Speziani, F., Ferbert, A., Feki, I., Caballero-Oteyza, A., Dionne-Laporte, A., Amri, M., Noreau, A., Forlani, S., Cruz, V. T. & 13 others, Mochel, F., Coutinho, P., Dion, P., Mhiri, C., Schols, L., Pouget, J., Darios, F., Rouleau, G. A., Marques, W., Brice, A., Durr, A., Zuchner, S. & Stevanin, G., Jul 11 2013, In : American journal of human genetics. 93, 1, p. 118-123 6 p.

Research output: Contribution to journalArticle

84 Scopus citations

A new locus for X-linked dominant charcot-marie-tooth disease (CMTX6) is caused by mutations in the pyruvate dehydrogenase kinase isoenzyme 3 (PDK3) gene

Kennerson, M. L., Yiu, E. M., Chuang, D. T., Kidambi, A., Tso, S. C., Ly, C., Chaudhry, R., Drew, A. P., Rance, G., Delatycki, M. B., Züchner, S., Ryan, M. M. & Nicholson, G. A., Apr 2013, In : Human molecular genetics. 22, 7, p. 1404-1416 13 p., dds557.

Research output: Contribution to journalArticle

42 Scopus citations

Ascorbate-induced generation of 5-hydroxymethylcytosine is unaffected by varying levels of iron and 2-oxoglutarate

Dickson, K. M., Gustafson, C. B., Young, J. I., Züchner, S. & Wang, G., Oct 4 2013, In : Biochemical and biophysical research communications. 439, 4, p. 522-527 6 p.

Research output: Contribution to journalArticle

46 Scopus citations