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  • Stephan L Zuchner
2020

A longitudinal study of CMT1A using Rasch analysis based CMT neuropathy and examination scores

Inherited Neuropathies Consortium—Rare Diseases Clinical Research Network (INC-RDCRN), Mar 3 2020, In : Neurology. 94, 9, p. e884-e896

Research output: Contribution to journalComment/debate

Biallelic mutations in SORD cause a common and potentially treatable hereditary neuropathy with implications for diabetes

Inherited Neuropathy Consortium, May 1 2020, In : Nature genetics. 52, 5, p. 473-481 9 p.

Research output: Contribution to journalArticle

2 Scopus citations

Cerebellar ataxia, neuropathy, vestibular areflexia syndrome due to RFC1 repeat expansion

Cortese, A., Tozza, S., Yau, W. Y., Rossi, S., Beecroft, S. J., Jaunmuktane, Z., Dyer, Z., Ravenscroft, G., Lamont, P. J., Mossman, S., Chancellor, A., Maisonobe, T., Pereon, Y., Cauquil, C., Colnaghi, S., Mallucci, G., Curro, R., Tomaselli, P. J., Thomas-Black, G., Sullivan, R. & 22 others, Efthymiou, S., Rossor, A. M., Laurá, M., Pipis, M., Horga, A., Polke, J., Kaski, D., Horvath, R., Chinnery, P. F., Marques, W., Tassorelli, C., Devigili, G., Leonardis, L., Wood, N. W., Bronstein, A., Giunti, P., Züchner, S., Stojkovic, T., Laing, N., Roxburgh, R. H., Houlden, H. & Reilly, M. M., 2020, In : Brain. 143, 2, p. 489-490 2 p.

Research output: Contribution to journalArticle

Open Access
3 Scopus citations

Clinical Reasoning: A case of bilateral foot drop in a 74-year-old man

Harada, Y., Zuchner, S. L., Herrmann, D. N. & Veerapandiyan, A., Mar 3 2020, In : Neurology. 94, 9, p. 405-409 5 p.

Research output: Contribution to journalArticle

Open Access

Confirmation of TACO1 as a Leigh Syndrome Disease Gene in Two Additional Families

Oktay, Y., Güngör, S., Zeltner, L., Wiethoff, S., Schöls, L., Sonmezler, E., Yilmaz, E., Munro, B., Bender, B., Kernstock, C., Kaemereit, S., Liepelt, I., Töpf, A., Yis, U., Laurie, S., Yaramis, A., Zuchner, S., Hiz, S., Lochmüller, H., Schüle, R. & 1 others, Horvath, R., 2020, In : Journal of neuromuscular diseases. 7, 3, p. 301-308 8 p.

Research output: Contribution to journalArticle

De novo EIF2AK1 and EIF2AK2 Variants Are Associated with Developmental Delay, Leukoencephalopathy, and Neurologic Decompensation

Undiagnosed Diseases Network, Apr 2 2020, In : American journal of human genetics. 106, 4, p. 570-583 14 p.

Research output: Contribution to journalArticle

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

Genetic modifiers and non-Mendelian aspects of CMT

Bis-Brewer, D. M., Fazal, S. & Züchner, S., Jan 1 2020, In : Brain Research. 1726, 146459.

Research output: Contribution to journalReview article

1 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

Prot2HG: a database of protein domains mapped to the human genome

Stanek, D., Bis-Brewer, D. M., Saghira, C., Danzi, M. C., Seeman, P., Lassuthova, P. & Zuchner, S., Jan 1 2020, In : Database : the journal of biological databases and curation. 2020

Research output: Contribution to journalArticle

Open Access

Publisher Correction: Exome sequencing in amyotrophic lateral sclerosis implicates a novel gene, DNAJC7, encoding a heat-shock protein (Nature Neuroscience, (2019), 22, 12, (1966-1974), 10.1038/s41593-019-0530-0)

ALSGENS Consortium, FALS Consortium, Project MinE Consortium & CReATe Consortium, Feb 1 2020, In : Nature Neuroscience. 23, 2, 1 p.

Research output: Contribution to journalComment/debate

Open Access
2019

A network biology approach to unraveling inherited axonopathies

Bis-Brewer, D. M., Danzi, M. C., Wuchty, S. & Züchner, S., Dec 1 2019, In : Scientific reports. 9, 1, 1692.

Research output: Contribution to journalArticle

Open Access
2 Scopus citations

A novel MFN2 mutation causes variable clinical severity in a multi-generational CMT2 family

Dankwa, L., Richardson, J., Motley, W. W., Scavina, M., Courel, S., Bardakjian, T., Züchner, S. & Scherer, S. S., Feb 2019, In : Neuromuscular Disorders. 29, 2, p. 134-137 4 p.

Research output: Contribution to journalArticle

2 Scopus citations

Author Correction: Biallelic expansion of an intronic repeat in RFC1 is a common cause of late-onset ataxia (Nature Genetics, (2019), 51, 4, (649-658), 10.1038/s41588-019-0372-4)

Cortese, A., Simone, R., Sullivan, R., Vandrovcova, J., Tariq, H., Yau, W. Y., Humphrey, J., Jaunmuktane, Z., Sivakumar, P., Polke, J., Ilyas, M., Tribollet, E., Tomaselli, P. J., Devigili, G., Callegari, I., Versino, M., Salpietro, V., Efthymiou, S., Kaski, D., Wood, N. W. & 10 others, Andrade, N. S., Buglo, E., Rebelo, A., Rossor, A. M., Bronstein, A., Fratta, P., Marques, W. J., Züchner, S., Reilly, M. M. & Houlden, H., May 1 2019, In : Nature genetics. 51, 5, 1 p.

Research output: Contribution to journalComment/debate

Open Access
2 Scopus citations

Autosomal dominant optic atrophy and cataract "plus" phenotype including axonal neuropathy

Horga, A., Bugiardini, E., Manole, A., Bremner, F., Jaunmuktane, Z., Dankwa, L., Rebelo, A. P., Woodward, C. E., Hargreaves, I. P., Cortese, A., Pittman, A. M., Brandner, S., Polke, J. M., Pitceathly, R. D. S., Züchner, S., Hanna, M. G., Scherer, S. S., Houlden, H. & Reilly, M. M., Apr 1 2019, In : Neurology: Genetics. 5, 2, e322.

Research output: Contribution to journalArticle

Open Access
1 Scopus citations

Biallelic expansion of an intronic repeat in RFC1 is a common cause of late-onset ataxia

Cortese, A., Simone, R., Sullivan, R., Vandrovcova, J., Tariq, H., Yan, Y. W., Humphrey, J., Jaunmuktane, Z., Sivakumar, P., Polke, J., Ilyas, M., Tribollet, E., Tomaselli, P. J., Devigili, G., Callegari, I., Versino, M., Salpietro, V., Efthymiou, S., Kaski, D., Wood, N. W. & 10 others, Andrade, N. S., Buglo, E., Rebelo, A., Rossor, A. M., Bronstein, A., Fratta, P., Marques, W. J., Züchner, S., Reilly, M. M. & Houlden, H., Apr 1 2019, In : Nature genetics. 51, 4, p. 649-658 10 p.

Research output: Contribution to journalArticle

40 Scopus citations

Bi-allelic variants in RNF170 are associated with hereditary spastic paraplegia

Wagner, M., Osborn, D. P. S., Gehweiler, I., Nagel, M., Ulmer, U., Bakhtiari, S., Amouri, R., Boostani, R., Hentati, F., Hockley, M. M., Hölbling, B., Schwarzmayr, T., Karimiani, E. G., Kernstock, C., Maroofian, R., Müller-Felber, W., Ozkan, E., Padilla-Lopez, S., Reich, S., Reichbauer, J. & 9 others, Darvish, H., Shahmohammadibeni, N., Tafakhori, A., Vill, K., Zuchner, S., Kruer, M. C., Winkelmann, J., Jamshidi, Y. & Schüle, R., Dec 1 2019, In : Nature communications. 10, 1, 4790.

Research output: Contribution to journalArticle

Open Access
1 Scopus citations

De Novo Variants in WDR37 Are Associated with Epilepsy, Colobomas, Dysmorphism, Developmental Delay, Intellectual Disability, and Cerebellar Hypoplasia

Undiagnosed Diseases Network, Aug 1 2019, In : American journal of human genetics. 105, 2, p. 413-424 12 p.

Research output: Contribution to journalArticle

2 Scopus citations

Erratum: Truncating Mutations in UBAP1 Cause Hereditary Spastic Paraplegia (The American Journal of Human Genetics (2019) 104(4) (767–773), (S0002929719300977), (10.1016/j.ajhg.2019.03.001))

Farazi Fard, M. A., Rebelo, A. P., Buglo, E., Nemati, H., Dastsooz, H., Gehweiler, I., Reich, S., Reichbauer, J., Quintáns, B., Ordóñez-Ugalde, A., Cortese, A., Courel, S., Abreu, L., Powell, E., Danzi, M. C., Martuscelli, N. B., Bis-Brewer, D. M., Tao, F., Zarei, F., Habibzadeh, P. & 22 others, Yavarian, M., Modarresi, F., Silawi, M., Tabatabaei, Z., Yousefi, M., Farpour, H. R., Kessler, C., Mangold, E., Kobeleva, X., Tournev, I., Chamova, T., Mueller, A. J., Haack, T. B., Tarnopolsky, M., Gan-Or, Z., Rouleau, G. A., Synofzik, M., Sobrido, M. J., Jordanova, A., Schüle, R., Zuchner, S. & Faghihi, M. A., Jun 6 2019, In : American journal of human genetics. 104, 6, 1 p.

Research output: Contribution to journalComment/debate

1 Scopus citations
Open Access
1 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

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

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

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

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

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

MOVR—NeuroMuscular ObserVational Research, a unified data hub for neuromuscular diseases

Howell, R. R. & Zuchner, S., Mar 1 2019, In : Genetics in Medicine. 21, 3, p. 536-538 3 p.

Research output: Contribution to journalComment/debate

Partial Loss of USP9X Function Leads to a Male Neurodevelopmental and Behavioral Disorder Converging on Transforming Growth Factor β Signaling

Undiagnosed Diseases Network, 2019, (Accepted/In press) In : Biological Psychiatry.

Research output: Contribution to journalArticle

6 Scopus citations

POLG mutations presenting as Charcot-Marie-Tooth disease

Phillips, J., Courel, S., Rebelo, A. P., Bis-Brewer, D. M., Bardakjian, T., Dankwa, L., Hamedani, A. G., Züchner, S. & Scherer, S. S., Jun 2019, In : Journal of the Peripheral Nervous System. 24, 2, p. 213-218 6 p.

Research output: Contribution to journalArticle

2 Scopus citations

Replication studies of MIR149 association in Charcot–Marie–Tooth disease type 1A in a European population

the Inherited Neuropathy Consortium, Feb 1 2019, In : Neuromuscular Disorders. 29, 2, p. 160-162 3 p.

Research output: Contribution to journalLetter

Truncating Mutations in UBAP1 Cause Hereditary Spastic Paraplegia

Farazi Fard, M. A., Rebelo, A. P., Buglo, E., Nemati, H., Dastsooz, H., Gehweiler, I., Reich, S., Reichbauer, J., Quintáns, B., Ordóñez-Ugalde, A., Cortese, A., Courel, S., Abreu, L., Powell, E., Danzi, M., Martuscelli, N. B., Bis-Brewer, D. M., Tao, F., Zarei, F., Habibzadeh, P. & 20 others, Yavarian, M., Modarresi, F., Silawi, M., Tabatabaei, Z., Yousefi, M., Farpour, H. R., Kessler, C., Mangold, E., Kobeleva, X., Mueller, A. J., Haack, T. B., Tarnopolsky, M., Gan-Or, Z., Rouleau, G. A., Synofzik, M., Sobrido, M. J., Jordanova, A., Schüle, R., Zuchner, S. & Faghihi, M. A., Apr 4 2019, In : American journal of human genetics. 104, 4, p. 767-773 7 p.

Research output: Contribution to journalArticle

8 Scopus citations

Variation in SIPA1L2 is correlated with phenotype modification in Charcot– Marie– Tooth disease type 1A

for the Inherited Neuropathy Consortium, Mar 2019, In : Annals of neurology. 85, 3, p. 316-330 15 p.

Research output: Contribution to journalArticle

6 Scopus citations

VarSight: Prioritizing clinically reported variants with binary classification algorithms

Holt, J. M., Wilk, B., Birch, C. L., Brown, D. M., Gajapathy, M., Moss, A. C., Sosonkina, N., Wilk, M. A., Anderson, J. A., Harris, J. M., Kelly, J. M., Shaterferdosian, F., Uno-Antonison, A. E., Weborg, A., Acosta, M. T., Adam, M., Adams, D. R., Agrawal, P. B., Alejandro, M. E., Allard, P. & 259 others, Alvey, J., Amendola, L., Andrews, A., Ashley, E. A., Azamian, M. S., Bacino, C. A., Bademci, G., Baker, E., Balasubramanyam, A., Baldridge, D., Bale, J., Bamshad, M., Barbouth, D., Batzli, G. F., Bayrak-Toydemir, P., Beck, A., Beggs, A. H., Bejerano, G., Bellen, H. J., Bennet, J., Berg-Rood, B., Bernier, R., Bernstein, J. A., Berry, G. T., Bican, A., Bivona, S., Blue, E., Bohnsack, J., Bonnenmann, C., Bonner, D., Botto, L., Briere, L. C., Brokamp, E., Burke, E. A., Burrage, L. C., Butte, M. J., Byers, P., Carey, J., Carrasquillo, O., Chang, T. C. P., Chanprasert, S., Chao, H. T., Clark, G. D., Coakley, T. R., Cobban, L. A., Cogan, J. D., Cole, F. S., Colley, H. A., Cooper, C. M., Cope, H., Craigen, W. J., Cunningham, M., D'Souza, P., Dai, H., Dasari, S., Davids, M., Dayal, J. G., Dell'Angelica, E. C., Dhar, S. U., Dipple, K., Doherty, D., Dorrani, N., Douine, E. D., Draper, D. D., Duncan, L., Earl, D., Eckstein, D. J., Emrick, L. T., Eng, C. M., Esteves, C., Estwick, T., Fernandez, L., Ferreira, C., Fieg, E. L., Fisher, P. G., Fogel, B. L., Forghani, I., Fresard, L., Gahl, W. A., Glass, I., Godfrey, R. A., Golden-Grant, K., Goldman, A. M., Goldstein, D. B., Grajewski, A., Groden, C. A., Gropman, A. L., Hahn, S., Hamid, R., Hanchard, N. A., Hayes, N., High, F., Hing, A., Hisama, F. M., Holm, I. A., Hom, J., Horike-Pyne, M., Huang, A., Huang, Y., Isasi, R., Jamal, F., Jarvik, G. P., Jarvik, J., Jayadev, S., Jiang, Y. H., Johnston, J. M., Karaviti, L., Kelley, E. G., Kiley, D., Kohane, I. S., Kohler, J. N., Krakow, D., Krasnewich, D. M., Korrick, S., Koziura, M., Krier, J. B., Lalani, S. R., Lam, B., Lam, C., Lanpher, B. C., Lanza, I. R., Lau, C. C., Leblanc, K., Lee, B. H., Lee, H., Levitt, R., Lewis, R. A., Lincoln, S. A., Liu, P., Liu, X. Z., Longo, N., Loo, S. K., Loscalzo, J., Maas, R. L., Macnamara, E. F., MacRae, C. A., Maduro, V. V., Majcherska, M. M., Malicdan, M. C. V., Mamounas, L. A., Manolio, T. A., Mao, R., Maravilla, K., Markello, T. C., Marom, R., Marth, G., Martin, B. A., Martin, M. G., Martínez-Agosto, J. A., Marwaha, S., McCauley, J., McConkie-Rosell, A., McCormack, C. E., McCray, A. T., Mefford, H., Merritt, J. L., Might, M., Mirzaa, G., Morava-Kozicz, E., Moretti, P. M., Morimoto, M., Mulvihill, J. J., Murdock, D. R., Nath, A., Nelson, S. F., Newman, J. H., Nicholas, S. K., Nickerson, D., Novacic, D., Oglesbee, D., Orengo, J. P., Pace, L., Pak, S., Pallais, J. C., Palmer, C. G. S., Papp, J. C., Parker, N. H., Phillips, J. A., Posey, J. E., Postlethwait, J. H., Potocki, L., Pusey, B. N., Quinlan, A., Raskind, W., Raja, A. N., Renteria, G., Reuter, C. M., Rives, L., Robertson, A. K., Rodan, L. H., Rosenfeld, J. A., Rowley, R. K., Ruzhnikov, M., Sacco, R., Sampson, J. B., Samson, S. L., Saporta, M., Scott, C. R., Schaechter, J., Schedl, T., Schoch, K., Scott, D. A., Shakachite, L., Sharma, P., Shashi, V., Shin, J., Signer, R., Sillari, C. H., Silverman, E. K., Sinsheimer, J. S., Sisco, K., Smith, K. S., Solnica-Krezel, L., Spillmann, R. C., Stoler, J. M., Stong, N., Sullivan, J. A., Sun, A., Sutton, S., Sweetser, D. A., Sybert, V., Tabor, H. K., Tamburro, C. P., Tan, Q. K. G., Tekin, M., Telischi, F., Thorson, W., Tifft, C. J., Toro, C., Tran, A. A., Urv, T. K., Velinder, M., Viskochil, D., Vogel, T. P., Wahl, C. E., Wallace, S., Walley, N. M., Walsh, C. A., Walker, M., Wambach, J., Wan, J., Wang, L. K., Wangler, M. F., Ward, P. A., Wegner, D., Wener, M., Westerfield, M., Wheeler, M. T., Wise, A. L., Wolfe, L. A., Woods, J. D., Yamamoto, S., Yang, J., Yoon, A. J., Yu, G., Zastrow, D. B., Zhao, C., Zuchner, S. & Worthey, E. A., Oct 15 2019, In : BMC Bioinformatics. 20, 1, 496.

Research output: Contribution to journalArticle

Open Access
3 Scopus citations
2017

Abl2 kinase phosphorylates Bi-organellar regulator MNRR1 in mitochondria, stimulating respiration

Aras, S., Arrabi, H., Purandare, N., Hüttemann, M., Kamholz, J., Zuchner, S. L. & Grossman, L. I., Feb 1 2017, In : Biochimica et Biophysica Acta - Molecular Cell Research. 1864, 2, p. 440-448 9 p.

Research output: Contribution to journalArticle

6 Scopus citations

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

28 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., Züchner, S., Sharkia, R. & Schöls, L., 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., 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

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

Research output: Contribution to journalArticle

24 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

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

15 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