Stephan L Zuchner

Professor

  • 10591 Citations
1998 …2024

Research output per year

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Research Output

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Article
2019

A network biology approach to unraveling inherited axonopathies

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

Research output: Contribution to journalArticle

Open Access
1 Scopus citations
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., Zuchner, S. L., 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

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., Zuchner, S. L., Reilly, M. M. & Houlden, H., Apr 1 2019, In : Nature genetics. 51, 4, p. 649-658 10 p.

Research output: Contribution to journalArticle

23 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

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., Zuchner, S. L., Bauer, P., Schöls, L. & Schüle, R., Jun 1 2019, In : Brain : a journal of neurology. 142, 6, p. 1561-1572 12 p.

Research output: Contribution to journalArticle

3 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., Zuchner, S. L. & Freeman, M. R., Jul 3 2019, In : Neuron. 103, 1, p. 52-65.e6

Research output: Contribution to journalArticle

Open Access
2 Scopus citations

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

Tao, F., Beecham, G. W., Rebelo, A. P., Blanton, S. H., Moran, J. J., Lopez-Anido, C., Svaren, J., Abreu, L., Rizzo, D., Kirk, C. A., Wu, X., Feely, S., Verhamme, C., Saporta, M. A., Herrmann, D. N., Day, J. W., Sumner, C. J., Lloyd, T. E., Li, J., Yum, S. W. & 8 others, Taroni, F., Baas, F., Choi, B. O., Pareyson, D., Scherer, S. S., Reilly, M. M., Shy, M. E. & Züchner, S., Jan 1 2019, In : Journal of neuromuscular diseases. 6, 2, p. 201-211 11 p.

Research output: Contribution to journalArticle

1 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., Zuchner, S. L. & Scherer, S. S., Jan 1 2019, In : Journal of the Peripheral Nervous System.

Research output: Contribution to journalArticle

1 Scopus citations
4 Scopus citations
2018

Beyond ALS and FTD: the phenotypic spectrum of TBK1 mutations includes PSP-like and cerebellar phenotypes

Wilke, C., Baets, J., De Bleecker, J. L., Deconinck, T., Biskup, S., Hayer, S. N., Zuchner, S. L., Schüle, R., De Jonghe, P. & Synofzik, M., Feb 1 2018, In : Neurobiology of Aging. 62, p. 244.e9-244.e13

Research output: Contribution to journalArticle

10 Scopus citations

Biallelic CHP1 mutation causes human autosomal recessive ataxia by impairing NHE1 function

Mendoza-Ferreira, N., Coutelier, M., Janzen, E., Hosseinibarkooie, S., Löhr, H., Schneider, S., Milbradt, J., Karakaya, M., Riessland, M., Pichlo, C., Torres-Benito, L., Singleton, A., Zuchner, S. L., Brice, A., Durr, A., Hammerschmidt, M., Stevanin, G. & Wirth, B., Feb 1 2018, In : Neurology: Genetics. 4, 1, e209.

Research output: Contribution to journalArticle

9 Scopus citations
9 Scopus citations

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

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

Research output: Contribution to journalArticle

2 Scopus citations

Genome-wide Analyses Identify KIF5A as a Novel ALS Gene

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

Research output: Contribution to journalArticle

81 Scopus citations

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

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

Research output: Contribution to journalArticle

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

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

Research output: Contribution to journalArticle

4 Scopus citations

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

MFN2-Study Group, Jan 1 2018, (Accepted/In press) In : Journal of Clinical Lipidology.

Research output: Contribution to journalArticle

5 Scopus citations

Mutations in ATP1A1 Cause Dominant Charcot-Marie-Tooth Type 2

Lassuthova, P., Rebelo, A. P., Ravenscroft, G., Lamont, P. J., Davis, M. R., Manganelli, F., Feely, S. M., Bacon, C., Brožková, D. Š., Haberlova, J., Mazanec, R., Tao, F., Saghira, C., Abreu, L., Courel, S., Powell, E., Buglo, E., Bis, D. M., Baxter, M. F., Ong, R. W. & 14 others, Marns, L., Lee, Y. C., Bai, Y., Isom, D. G., Barro-Soria, R., Chung, K. W., Scherer, S. S., Larsson, H. P., Laing, N. G., Choi, B. O., Seeman, P., Shy, M. E., Santoro, L. & Zuchner, S., Mar 1 2018, In : American Journal of Human Genetics. 102, 3, p. 505-514 10 p.

Research output: Contribution to journalArticle

11 Scopus citations

Myopathy associated BAG3 mutations lead to protein aggregation by stalling Hsp70 networks

Meister-Broekema, M., Freilich, R., Jagadeesan, C., Rauch, J. N., Bengoechea, R., Motley, W. W., Kuiper, E. F. E., Minoia, M., Furtado, G. V., van Waarde, M. A. W. H., Bird, S. J., Rebelo, A., Zuchner, S. L., Pytel, P., Scherer, S. S., Morelli, F. F., Carra, S., Weihl, C. C., Bergink, S., Gestwicki, J. E. & 1 others, Kampinga, H. H., Dec 1 2018, In : Nature Communications. 9, 1, 5342.

Research output: Contribution to journalArticle

6 Scopus citations

SCO2 mutations cause early-onset axonal Charcot-Marie-Tooth disease associated with cellular copper deficiency

Rebelo, A. P., Saade, D., Pereira, C. V., Farooq, A., Huff, T. C., Abreu, L., Moraes, C. T., Mnatsakanova, D., Mathews, K., Yang, H., Schon, E. A., Zuchner, S. L. & Shy, M. E., Mar 1 2018, In : Brain. 141, 3, p. 662-672 11 p.

Research output: Contribution to journalArticle

12 Scopus citations
9 Scopus citations

Variant pathogenicity evaluation in the community-driven Inherited Neuropathy Variant Browser

Saghira, C., Bis, D. M., Stanek, D., Strickland, A., Herrmann, D. N., Reilly, M. M., Scherer, S. S., Shy, M. E. & Zuchner, S. L., Jan 1 2018, (Accepted/In press) In : Human Mutation.

Research output: Contribution to journalArticle

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, Zuchner, S. L., Baets, J. & Lee, Y. C., May 1 2017, In : Brain. 140, 5, p. 1252-1266 15 p.

Research output: Contribution to journalArticle

22 Scopus citations
12 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

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., Zuchner, S. L., 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

27 Scopus citations
18 Scopus citations
42 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

11 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

15 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., Zuchner, S. L., 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

15 Scopus citations

Substrate interaction defects in histidyl-tRNA synthetase linked to dominant axonal peripheral neuropathy

Abbott, J. A., Meyer-Schuman, R., Lupo, V., Feely, S., Mademan, I., Oprescu, S. N., Griffin, L. B., Alberti, M. A., Casasnovas, C., Aharoni, S., Basel-Vanagaite, L., Zuchner, S. L., De Jonghe, P., Baets, J., Shy, M. E., Espinós, C., Demeler, B., Antonellis, A. & Francklyn, C., Jan 1 2017, (Accepted/In press) In : Human Mutation.

Research output: Contribution to journalArticle

6 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. & Zuchner, S. L., Jan 1 2017, In : Molecular Genetics and Genomic Medicine. 5, 3, p. 280-286 7 p.

Research output: Contribution to journalArticle

8 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

12 Scopus citations
4 Scopus citations