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  • Stephan L Zuchner
2017

A recurrent WARS mutation is a novel cause of autosomal dominant distal hereditary motor neuropathy

Tsai, P. C., Soong, B. W., Mademan, I., Huang, Y. H., Liu, C. R., Hsiao, C. T., Wu, H. T., Liu, T. T., Liu, Y. T., Tseng, Y. T., Lin, K. P., Yang, U. C., Chung, K. W., Choi, B. O., Nicholson, G. A., Kennerson, M. L., Chan, C. C., De Jonghe, P., Cheng, T. H., Liao, Y. C. & 3 others, Züchner, S., Baets, J. & Lee, Y. C., May 1 2017, In : Brain. 140, 5, p. 1252-1266 15 p.

Research output: Contribution to journalArticle

27 Scopus citations

CNTNAP1 mutations cause CNS hypomyelination and neuropathy with or without arthrogryposis

Hengel, H., Magee, A., Mahanjah, M., Vallat, J. M., Ouvrier, R., Abu-Rashid, M., Mahamid, J., Schüle, R., Schulze, M., Krägeloh-Mann, I., Bauer, P., Zuchner, S. L., Sharkia, R. & Schöls, L., Jan 1 2017, In : Neurology: Genetics. 3, 2, e144.

Research output: Contribution to journalArticle

15 Scopus citations

Common data elements for clinical research in mitochondrial disease: a National Institute for Neurological Disorders and Stroke project

on behalf of the Mito Working Group Member Participants, May 1 2017, In : Journal of Inherited Metabolic Disease. 40, 3, p. 403-414 12 p.

Research output: Contribution to journalArticle

5 Scopus citations

Cryptic amyloidogenic elements in mutant NEFH causing Charcot-Marie-Tooth 2 trigger aggresome formation and neuronal death

Jacquier, A., Delorme, C., Belotti, E., Juntas-Morales, R., Solé, G., Dubourg, O., Giroux, M., Maurage, C. A., Castellani, V., Rebelo, A., Abrams, A., Züchner, S., Stojkovic, T., Schaeffer, L. & Latour, P., Jul 14 2017, In : Acta neuropathologica communications. 5, 1, 1 p.

Research output: Contribution to journalArticle

9 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

Exome sequencing reveals two FA2H mutations in a family with a complicated form of Hereditary Spastic Paraplegia and psychiatric impairments

Magariello, A., Russo, C., Citrigno, L., Zuchner, S. L., Patitucci, A., Mazzei, R., Conforti, F. L., Ferlazzo, E., Aguglia, U. & Muglia, M., Jan 15 2017, In : Journal of the Neurological Sciences. 372, p. 347-349 3 p.

Research output: Contribution to journalLetter

5 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., Zuchner, S. L., Shy, M. & Reilly, M. M., Jul 1 2017, In : Journal of Neurology, Neurosurgery and Psychiatry. 88, 7, p. 575-585 11 p.

Research output: Contribution to journalArticle

10 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

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., Jan 1 2017, In : Brain. 140, 6, p. 1561-1578 18 p.

Research output: Contribution to journalArticle

22 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. L., 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

49 Scopus citations

Novel mutations in dystonin provide clues to the pathomechanisms of HSAN-VI

Manganelli, F., Parisi, S., Nolano, M., Tao, F., Paladino, S., Pisciotta, C., Tozza, S., Nesti, C., Rebelo, A. P., Provitera, V., Santorelli, F. M., Shy, M. E., Russo, T., Zuchner, S. L. & Santoro, L., May 30 2017, In : Neurology. 88, 22, p. 2132-2140 9 p.

Research output: Contribution to journalArticle

13 Scopus citations

PLA2G6 mutations associated with a continuous clinical spectrum from neuroaxonal dystrophy to hereditary spastic paraplegia

Ozes, B., Karagoz, N., Schüle, R., Rebelo, A., Sobrido, M. J., Harmuth, F., Synofzik, M., Pascual, S. I. P., Colak, M., Ciftci-Kavaklioglu, B., Kara, B., Ordóñez-Ugalde, A., Quintáns, B., Gonzalez, M. A., Soysal, A., Zuchner, S. L. & Battaloglu, E., 2017, (Accepted/In press) In : Clinical Genetics.

Research output: Contribution to journalArticle

16 Scopus citations

STUB1/CHIP mutations cause Gordon Holmes syndrome as part of a widespread multisystemic neurodegeneration: evidence from four novel mutations

Hayer, S. N., Deconinck, T., Bender, B., Smets, K., Züchner, S., Reich, S., Schöls, L., Schüle, R., De Jonghe, P., Baets, J. & Synofzik, M., Feb 13 2017, In : Orphanet journal of rare diseases. 12, 1, 31.

Research output: Contribution to journalArticle

17 Scopus citations

The human phenotype ontology in 2017

Köhler, S., Vasilevsky, N. A., Engelstad, M., Foster, E., McMurry, J., Aymé, S., Baynam, G., Bello, S. M., Boerkoel, C. F., Boycott, K. M., Brudno, M., Buske, O. J., Chinnery, P. F., Cipriani, V., Connell, L. E., Dawkins, H. J. S., DeMare, L. E., Devereau, A. D., De Vries, B. B. A., Firth, H. V. & 39 others, Freson, K., Greene, D., Hamosh, A., Helbig, I., Hum, C., Jähn, J. A., James, R., Krause, R., Laulederkind, S. J. F., Lochmüller, H., Lyon, G. J., Ogishima, S., Olry, A., Ouwehand, W. H., Pontikos, N., Rath, A., Schaefer, F., Scott, R. H., Segal, M., Sergouniotis, P. I., Sever, R., Smith, C. L., Straub, V., Thompson, R., Turner, C., Turro, E., Veltman, M. W. M., Vulliamy, T., Yu, J., Von Ziegenweidt, J., Zankl, A., Züchner, S., Zemojtel, T., Jacobsen, J. O. B., Groza, T., Smedley, D., Mungall, C. J., Haendel, M. & Robinson, P. N., Jan 1 2017, In : Nucleic acids research. 45, D1, p. D865-D876

Research output: Contribution to journalArticle

332 Scopus citations

TIA1 Mutations in Amyotrophic Lateral Sclerosis and Frontotemporal Dementia Promote Phase Separation and Alter Stress Granule Dynamics

Mackenzie, I. R., Nicholson, A. M., Sarkar, M., Messing, J., Purice, M. D., Pottier, C., Annu, K., Baker, M., Perkerson, R. B., Kurti, A., Matchett, B. J., Mittag, T., Temirov, J., Hsiung, G. Y. R., Krieger, C., Murray, M. E., Kato, M., Fryer, J. D., Petrucelli, L., Zinman, L. & 22 others, Weintraub, S., Mesulam, M., Keith, J., Zivkovic, S. A., Hirsch-Reinshagen, V., Roos, R. P., Züchner, S., Graff-Radford, N. R., Petersen, R. C., Caselli, R. J., Wszolek, Z. K., Finger, E., Lippa, C., Lacomis, D., Stewart, H., Dickson, D. W., Kim, H. J., Rogaeva, E., Bigio, E., Boylan, K. B., Taylor, J. P. & Rademakers, R., Aug 16 2017, In : Neuron. 95, 4, p. 808-816.e9

Research output: Contribution to journalArticle

173 Scopus citations

Uniparental disomy determined by whole-exome sequencing in a spectrum of rare motoneuron diseases and ataxias

Bis, D. M., Schüle, R., Reichbauer, J., Synofzik, M., Rattay, T. W., Soehn, A., de Jonghe, P., Schöls, L. & Züchner, S., Jan 1 2017, In : Molecular Genetics and Genomic Medicine. 5, 3, p. 280-286 7 p.

Research output: Contribution to journalArticle

10 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., Jan 1 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., Zuchner, S. L. & 2 others, Liepelt-Scarfone, I. & Schöls, L., 2016, (Accepted/In press) In : Annals of Neurology.

Research output: Contribution to journalArticle

74 Scopus citations

MORC2 mutations cause axonal Charcot-Marie-Tooth disease with pyramidal signs

Albulym, O. M., Kennerson, M. L., Harms, M. B., Drew, A. P., Siddell, A. H., Auer-Grumbach, M., Pestronk, A., Connolly, A., Baloh, R. H., Zuchner, S. L., Reddel, S. W. & Nicholson, G. A., Mar 1 2016, In : Annals of Neurology. 79, 3, p. 419-427 9 p.

Research output: Contribution to journalArticle

19 Scopus citations

Motor neuron degeneration in spastic paraplegia 11 mimics amyotrophic lateral sclerosis lesions

Denora, P. S., Smets, K., Zolfanelli, F., Groote, C. C. D., Casali, C., Deconinck, T., Sieben, A., Gonzales, M., Zuchner, S., Darios, F., Peeters, D., Brice, A., Malandrini, A., De Jonghe, P., Santorelli, F. M., Stevanin, G., Martin, J. J. & El Hachimi, K. H., Jan 1 2016, In : Brain. 139, 6, p. 1723-1734 12 p.

Research output: Contribution to journalArticle

18 Scopus citations

MSeqDR: A Centralized Knowledge Repository and Bioinformatics Web Resource to Facilitate Genomic Investigations in Mitochondrial Disease

Shen, L., Diroma, M. A., Gonzalez, M., Navarro-Gomez, D., Leipzig, J., Lott, M. T., van Oven, M., Wallace, D. C., Muraresku, C. C., Zolkipli-Cunningham, Z., Chinnery, P. F., Attimonelli, M., Zuchner, S., Falk, M. J. & Gai, X., Jun 1 2016, In : Human mutation. 37, 6, p. 540-548 9 p.

Research output: Contribution to journalArticle

17 Scopus citations

Multisystemic SYNE1 ataxia: Confirming the high frequency and extending the mutational and phenotypic spectrum

EOA Consortium, Aug 1 2016, In : Brain. 139, 8, p. e46

Research output: Contribution to journalLetter

17 Scopus citations

Phenotypic variability of childhood Charcot-Marie-Tooth disease

Cornett, K. M. D., Menezes, M. P., Bray, P., Halaki, M., Shy, R. R., Yum, S. W., Estilow, T., Moroni, I., Foscan, M., Pagliano, E., Pareyson, D., Laurá, M., Bhandari, T., Muntoni, F., Reilly, M. M., Finkel, R. S., Sowden, J., Eichinger, K. J., Herrmann, D. N., Shy, M. E. & 18 others, Burns, J., Scherer, S., Zuchner, S. L., da Cunha Saporta, M., Lloyd, T., Li, J., Weiss, M. D., Fischbeck, K., Day, J., Baloh, R., Lewis, R. A., Fridman, V., Ramchandren, S., Walk, D., Johnson, N., Acsadi, G., Baets, J. & Krischer, J., Jun 1 2016, In : JAMA Neurology. 73, 6, p. 645-651 7 p.

Research output: Contribution to journalArticle

39 Scopus citations

Rare Variants in MME, Encoding Metalloprotease Neprilysin, Are Linked to Late-Onset Autosomal-Dominant Axonal Polyneuropathies

Auer-Grumbach, M., Toegel, S., Schabhüttl, M., Weinmann, D., Chiari, C., Bennett, DL. L. H., Beetz, C., Klein, D., Andersen, PM. M., Böhme, I., Fink-Puches, R., Gonzalez, M., Harms, MB. B., Motley, W., Reilly, MM. M., Renner, W., Rudnik-Schöneborn, S., Schlotter-Weigel, B., Themistocleous, AC. C., Weishaupt, JH. H. & 12 others, Ludolph, AC. C., Wieland, T., Tao, F., Abreu, L., Windhager, R., Zitzelsberger, M., Strom, TM. M., Walther, T., Scherer, SS. S., Züchner, S., Martini, R. & Senderek, J., Sep 1 2016, In : American journal of human genetics. 99, 3, p. 607-623 17 p.

Research output: Contribution to journalArticle

22 Scopus citations

Segregation of a rare TTC3 variant in an extended family with late-onset Alzheimer disease

Kohli, M. A., Cukier, H. N., Hamilton-Nelson, K. L., Rolati, S., Kunkle, B. W., Whitehead, P. L., Zuchner, S. L., Farrer, L. A., Martin, E. R., Beecham, G. W., Haines, J. L., Vance, J. M., Cuccaro, M., Gilbert, J., Schellenberg, G. D., Carney, R. M. & Pericak-Vance, M. A., Feb 1 2016, In : Neurology: Genetics. 2, 1, e41.

Research output: Contribution to journalArticle

21 Scopus citations

Severe axonal Charcot-Marie-Tooth disease with proximal weakness caused by de novo mutation in the MORC2 gene

Laššuthová, P., Šafka Brozková, D., Krutová, M., Mazanec, R., Zuchner, S. L., Gonzalez, M. A. & Seeman, P., Apr 1 2016, In : Brain. 139, 4, p. e26

Research output: Contribution to journalArticle

12 Scopus citations

SIGMAR1 mutation associated with autosomal recessive Silver-like syndrome

Horga, A., Tomaselli, P. J., Gonzalez, M. A., Laurà, M., Muntoni, F., Manzur, A. Y., Hanna, M. G., Blake, J. C., Houlden, H., Zuchner, S. L. & Reilly, M. M., Oct 11 2016, In : Neurology. 87, 15, p. 1607-1612 6 p.

Research output: Contribution to journalArticle

14 Scopus citations

SYNE1 ataxia is a common recessive ataxia with major non-cerebellar features: A large multi-centre study

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., Stendel, C., Klopstock, T., Durr, A., Tranchant, C., Sturm, M. & 10 others, Hamza, W., Nanetti, L., Mariotti, C., Koenig, M., Schöls, L., Schüle, R., De Jonghe, P., Anheim, M., Taroni, F. & Bauer, P., May 1 2016, In : Brain. 139, 5, p. 1378-1393 16 p.

Research output: Contribution to journalArticle

42 Scopus citations

TYROBP genetic variants in early-onset Alzheimer's disease

Pottier, C., Ravenscroft, T. A., Brown, P. H., Finch, N. C. A., Baker, M., Parsons, M., Asmann, Y. W., Ren, Y., Christopher, E., Levitch, D., van Blitterswijk, M., Cruchaga, C., Campion, D., Nicolas, G., Richard, A. C., Guerreiro, R., Bras, J. T., Zuchner, S., Gonzalez, M. A., Bu, G. & 10 others, Younkin, S., Knopman, D. S., Josephs, K. A., Parisi, J. E., Petersen, R. C., Ertekin-Taner, N., Graff-Radford, N. R., Boeve, B. F., Dickson, D. W. & Rademakers, R., Dec 1 2016, In : Neurobiology of aging. 48, p. 222.e9-222.e15

Research output: Contribution to journalArticle

29 Scopus citations

Uniparental disomy of chromosome 16 unmasks recessive mutations of FA2H /SPG35 in 4 families

Soehn, A. S., Rattay, T. W., 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., Jul 12 2016, In : Neurology. 87, 2, p. 186-191 6 p.

Research output: Contribution to journalArticle

14 Scopus citations

Whole Genome Sequencing Identifies a 78 kb Insertion from Chromosome 8 as the Cause of Charcot-Marie-Tooth Neuropathy CMTX3

Brewer, M. H., Chaudhry, R., Qi, J., Kidambi, A., Drew, A. P., Menezes, M. P., Ryan, M. M., Farrar, M. A., Mowat, D., Subramanian, G. M., Young, H. K., Zuchner, S. L., Reddel, S. W., Nicholson, G. A. & Kennerson, M. L., Jul 1 2016, In : PLoS Genetics. 12, 7, e1006177.

Research output: Contribution to journalArticle

11 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., 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
120 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

114 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., Zuchner, S. L., 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

26 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

24 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. L., Oct 1 2015, In : Human Mutation. 36, 10, p. 950-956 7 p.

Research output: Contribution to journalArticle

42 Scopus citations