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  • Stephan L Zuchner
2014

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
2015

Abnormal paraplegin expression in swollen neurites, τ- and α-synuclein pathology in a case of hereditary spastic paraplegia SPG7 with an Ala510Val mutation

Thal, D. R., Züchner, S., Gierer, S., Schulte, C., Schöls, L., Schüle, R. & Synofzik, M., Oct 21 2015, In : International journal of molecular sciences. 16, 10, p. 25050-25066 17 p.

Research output: Contribution to journalArticle

9 Scopus citations

Absence of BiP Co-chaperone DNAJC3 causes diabetes mellitus and multisystemic neurodegeneration (The American Journal of Human Genetics (2014) 96 (689-697))

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., Mar 5 2015, In : American journal of human genetics. 96, 3, 1 p.

Research output: Contribution to journalComment/debate

Absence of Dystrophin Related Protein-2 disrupts Cajal bands in a patient with Charcot-Marie-Tooth disease

Brennan, K. M., Bai, Y., Pisciotta, C., Wang, S., Feely, S. M. E., Hoegger, M., Gutmann, L., Moore, S. A., Gonzalez, M., Sherman, D. L., Brophy, P. J., Züchner, S. & Shy, M. E., Oct 1 2015, In : Neuromuscular Disorders. 25, 10, p. 786-793 8 p.

Research output: Contribution to journalArticle

14 Scopus citations

Adult-onset painful axonal polyneuropathy caused by a dominant NAGLU mutation

Tétreault, M., Gonzalez, M., Dicaire, M. J., Allard, P., Gehring, K., Leblanc, D., Leclerc, N., Schondorf, R., Mathieu, J., Zuchner, S. L. & Brais, B., Jun 1 2015, In : Brain. 138, p. 1477-1483 7 p.

Research output: Contribution to journalArticle

7 Scopus citations

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
2016

A novel missense mutation of CMT2P alters transcription machinery

Hu, B., Arpag, S., Zuchner, S. L. & Li, J., 2016, (Accepted/In press) In : Annals of Neurology.

Research output: Contribution to journalArticle

13 Scopus citations

Characterizing the molecular phenotype of an: Atp7a T985I conditional knock in mouse model for X-linked distal hereditary motor neuropathy (dHMNX)

Perez-Siles, G., Grant, A., Ellis, M., Ly, C., Kidambi, A., Khalil, M., Llanos, R. M., Fontaine, S. L., Strickland, A. V., Zuchner, S. L., Bermeo, S., Neist, E., Brennan-Speranza, T. C., Takata, R. I., Speck-Martins, C. E., Mercer, J. F. B., Nicholson, G. A. & Kennerson, M. L., Sep 1 2016, In : Metallomics. 8, 9, p. 981-992 12 p.

Research output: Contribution to journalArticle

6 Scopus citations

Community genetics: Genetics boosts US-Cuban links

Isasi, R., Zuchner, S. L. & Villafranca, R. C., Nov 16 2016, In : Nature. 539, 7629, p. 357 1 p.

Research output: Contribution to journalLetter

Complicated spastic paraplegia in patients with AP5Z1 mutations (SPG48)

Hirst, J., Madeo, M., Smets, K., Edgar, J. R., Schols, L., Li, J., Yarrow, A., Deconinck, T., Baets, J., Van Aken, E., De Bleecker, J., Datiles, M. B., Roda, R. H., Liepert, J., Züchner, S., Mariotti, C., De Jonghe, P., Blackstone, C. & Kruer, M. C., 2016, In : Neurology: Genetics. 2, 5, e98.

Research output: Contribution to journalArticle

12 Scopus citations

Contactin-Associated Protein 1 (CNTNAP1) Mutations Induce Characteristic Lesions of the Paranodal Region

Vallat, J. M., Nizon, M., Magee, A., Isidor, B., Magy, L., Péréon, Y., Richard, L., Ouvrier, R., Cogné, B., Devaux, J., Zuchner, S. L. & Mathis, S., Dec 1 2016, In : Journal of Neuropathology and Experimental Neurology. 75, 12, p. 1155-1159 5 p.

Research output: Contribution to journalArticle

13 Scopus citations

Cryptic Amyloidogenic Elements in the 3′ UTRs of Neurofilament Genes Trigger Axonal Neuropathy

Rebelo, A. P., Abrams, A. J., Cottenie, E., Horga, A., Gonzalez, M., Bis, D. M., Sanchez-Mejias, A., Pinto, M., Buglo, E., Markel, K., Prince, J., Laura, M., Houlden, H., Blake, J., Woodward, C., Sweeney, M. G., Holton, J. L., Hanna, M., Dallman, J. E., Auer-Grumbach, M. & 2 others, Reilly, M. M. & Zuchner, S., Apr 7 2016, In : American journal of human genetics. 98, 4, p. 597-614 18 p.

Research output: Contribution to journalArticle

20 Scopus citations

De novo PMP2 mutations in families with type 1 Charcot-Marie-Tooth disease

Motley, W. W., Palaima, P., Yum, S. W., Gonzalez, M. A., Tao, F., Wanschitz, J. V., Strickland, A. V., Löscher, W. N., De Vriendt, E., Koppi, S., Medne, L., Janecke, A. R., Jordanova, A., Zuchner, S. & Scherer, S. S., Jan 1 2016, In : Brain. 139, 6, p. 1649-1656 8 p.

Research output: Contribution to journalArticle

20 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

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