Stephan L Zuchner

Professor

  • 10477 Citations
1998 …2024
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Research Output 1998 2020

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Article
2019
1 Citation (Scopus)

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
Hereditary Spastic Paraplegia
Tooth
Spinocerebellar Degenerations
Proteins
Spliceosomes
1 Citation (Scopus)

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., Zuchner, S. L. & Scherer, S. S., Jan 1 2019, (Accepted/In press) In : Neuromuscular Disorders.

Research output: Contribution to journalArticle

Mutation
Electromyography
Denervation
Phenotype
Muscles
1 Citation (Scopus)

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

Open Access
Peripheral Nervous System Diseases
Exome
Phenotype
Cataract
Mitochondria
19 Citations (Scopus)

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

Replication Protein C
Ataxia
Cerebellar Ataxia
Alleles
Genome
1 Citation (Scopus)

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
Hereditary Spastic Paraplegia
inositols
Inositol 1,4,5-Trisphosphate Receptors
genes
Cerebellar Ataxia
2 Citations (Scopus)

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

Coloboma
Intellectual Disability
Epilepsy
Diptera
Phenotype
3 Citations (Scopus)

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

Mixed Function Oxygenases
Fatty Acids
Hair
Hereditary Spastic Paraplegia
Sebum
2 Citations (Scopus)

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
Glutathione Disulfide
Glutathione Transferase
Mitochondrial Dynamics
Glutathione
Axons
1 Citation (Scopus)

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

Albinism
Hypopigmentation
Fibroblasts
Vacuoles
Osteopetrosis

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

Muscular Dystrophies
Magnetic Resonance Imaging
Atrophy
Lower Extremity
Muscles
1 Citation (Scopus)

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

Modifier Genes
Charcot-Marie-Tooth Disease
Genome-Wide Association Study
Single Nucleotide Polymorphism
Odds Ratio
1 Citation (Scopus)

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

Charcot-Marie-Tooth Disease
Mutation
Uniparental Disomy
Chromosomes, Human, Pair 15
Phenotype
6 Citations (Scopus)

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. L. & Faghihi, M. A., Apr 4 2019, In : American journal of human genetics. 104, 4, p. 767-773 7 p.

Research output: Contribution to journalArticle

Hereditary Spastic Paraplegia
Ubiquitin
Mutation
Proteins
Neurodegenerative Diseases
4 Citations (Scopus)

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

for the Inherited Neuropathy Consortium, Mar 1 2019, In : Annals of Neurology. 85, 3, p. 316-330 15 p.

Research output: Contribution to journalArticle

Charcot-Marie-Tooth Disease
Phenotype
Rare Diseases
SOXE Transcription Factors
Foot
2018
2 Citations (Scopus)

A mutation in the heptad repeat 2 domain of MFN2 in a large CMT2A family

Dankwa, L., Richardson, J., Motley, W. W., Zuchner, S. L. & Scherer, S. S., Jan 1 2018, (Accepted/In press) In : Journal of the Peripheral Nervous System.

Research output: Contribution to journalArticle

Polyneuropathies
Phenotype
Mutation
10 Citations (Scopus)

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

Phosphotransferases
Phenotype
Mutation
Genes
Atrophy
9 Citations (Scopus)

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

Ataxia
Mutation
Cerebellar Ataxia
Zebrafish
Spastic Paraparesis
8 Citations (Scopus)

De novo ITPR1 variants are a recurrent cause of early-onset ataxia, acting via loss of channel function

Synofzik, M., Helbig, K. L., Harmuth, F., Deconinck, T., Tanpaiboon, P., Sun, B., Guo, W., Wang, R., Palmaer, E., Tang, S., Schaefer, G. B., Gburek-Augustat, J., Zuchner, S. L., Krägeloh-Mann, I., Baets, J., de Jonghe, P., Bauer, P., Chen, S. R. W., Schöls, L. & Schüle, R., Jun 20 2018, (Accepted/In press) In : European Journal of Human Genetics. p. 1-12 12 p.

Research output: Contribution to journalArticle

Ataxia
Brain Diseases
HEK293 Cells
Computational Biology
Phenotype
2 Citations (Scopus)

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

Cerebellar Ataxia
Diptera
Cerebellum
Mutation
Drosophila
75 Citations (Scopus)

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

Kinesin
Genome
Mutation
Genes
Genome-Wide Association Study

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

Neuromuscular Junction
Missense Mutation
Phenotype
Drosophila
Lambert-Eaton Myasthenic Syndrome
2 Citations (Scopus)

Identification of compound heterozygous variants in OPTN in an ALS-FTD patient from the CReATe consortium: a case report

Pottier, C., Rampersaud, E., Baker, M., Wu, G., Wuu, J., McCauley, J. L., Zuchner, S. L., Schule, R., Bermudez, C., Hussain, S., Cooley, A., Wallace, M., Zhang, J., Taylor, J. P., Benatar, M. G. & Rademakers, R., Mar 20 2018, (Accepted/In press) In : Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration. p. 1-3 3 p.

Research output: Contribution to journalArticle

Amyotrophic Lateral Sclerosis
Mutation
Inheritance Patterns
Genetic Testing
Frontotemporal Dementia With Motor Neuron Disease
3 Citations (Scopus)

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

Genetic Association Studies
Optic Atrophy
Proteins
Mutation
Mitochondrial Dynamics
5 Citations (Scopus)

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

Multiple Symmetrical Lipomatosis
Lipomatosis
Adipose Tissue
Lipoma
Fluorodeoxyglucose F18

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

Howell, R. & Zuchner, S. L., Jun 22 2018, (Accepted/In press) In : Genetics in Medicine. p. 1-3 3 p.

Research output: Contribution to journalArticle

Neuromuscular Diseases
Research
11 Citations (Scopus)

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

Axons
Tooth
Mutation
Information Dissemination
Genetic Association Studies
5 Citations (Scopus)

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

stalling
Isoleucine
Valine
Muscular Diseases
mutations
12 Citations (Scopus)

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

Charcot-Marie-Tooth Disease
Copper
Mutation
Oxidoreductases
Polyneuropathies
7 Citations (Scopus)

The human motor neuron axonal transcriptome is enriched for transcripts related to mitochondrial function and microtubule-based axonal transport

Maciel, R., Bis, D. M., Rebelo, A. P., Saghira, C., Zuchner, S. L. & da Cunha Saporta, M., Sep 1 2018, In : Experimental Neurology. 307, p. 155-163 9 p.

Research output: Contribution to journalArticle

Axonal Transport
Motor Neurons
Transcriptome
Microtubules
Axons

Unique clinical and neurophysiologic profile of a cohort of children with CMTX3

Kanhangad, M., Cornett, K., Brewer, M. H., Nicholson, G. A., Ryan, M. M., Smith, R. L., Subramanian, G. M., Young, H. K., Zuchner, S. L., Kennerson, M. L., Burns, J. & Menezes, M. P., Jan 1 2018, In : Neurology. 90, 19, p. E1706-E1710

Research output: Contribution to journalArticle

Hand
Genetic Testing
Pediatrics
Foot Deformities
Charcot-Marie-Tooth Disease
3 Citations (Scopus)

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

Charcot-Marie-Tooth Disease
Virulence
Genes
Genetic Counseling
Alleles
2017
6 Citations (Scopus)

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

Mitochondria
Respiration
Phosphotransferases
Phosphorylation
Mutation
22 Citations (Scopus)

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

Tryptophan-tRNA Ligase
Mutation
Exome
Genes
Pedigree
12 Citations (Scopus)

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

Arthrogryposis
Mutation
Peripheral Nervous System Diseases
Cisterna Magna
Exome
5 Citations (Scopus)

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

National Institute of Neurological Disorders and Stroke
Mitochondrial Diseases
Research
Common Data Elements
Information Dissemination
9 Citations (Scopus)

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., Zuchner, S. L., Stojkovic, T., Schaeffer, L. & Latour, P., Jul 14 2017, In : Acta neuropathologica communications. 5, 1, 1 p.

Research output: Contribution to journalArticle

Intermediate Filaments
Tooth
Spinal Cord
Apoptosis
Charcot-Marie-Tooth Disease

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

Hereditary Spastic Paraplegia
Sequence Deletion
Human Genome
Genetic Recombination
Exons
10 Citations (Scopus)

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

Charcot-Marie-Tooth Disease
Mutation
Cerebellar Ataxia
Sural Nerve
Pyramidal Tracts
27 Citations (Scopus)

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

Hereditary Spastic Paraplegia
Paraplegia
Natural History
Randomized Controlled Trials
Biomarkers
18 Citations (Scopus)

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. L., Klockgether, T., Ramirez, A. & Schüle, R., 2017, In : Brain. 140, 6, p. 1561-1578 18 p.

Research output: Contribution to journalArticle

Mutation
Hereditary Spastic Paraplegia
Cerebellar Ataxia
Phenotype
Anodontia
42 Citations (Scopus)

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

Hereditary Spastic Paraplegia
Mutation
Genes
Neuronal Ceroid-Lipofuscinoses
Neurodegenerative Diseases
11 Citations (Scopus)

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

Hereditary Sensory and Autonomic Neuropathies
Mutation
Induced Pluripotent Stem Cells
Nerve Fibers
Neurons
15 Citations (Scopus)

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

Neuroaxonal Dystrophies
Hereditary Spastic Paraplegia
Mutation
Age of Onset
Morocco
15 Citations (Scopus)

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

Cerebellar Ataxia
Mutation
Hypogonadism
Ataxia
Exome
6 Citations (Scopus)

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

Histidine-tRNA Ligase
Peripheral Nervous System Diseases
Aminoacylation
Charcot-Marie-Tooth Disease
Fluorometry
290 Citations (Scopus)

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., Zuchner, S. L., 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

Phenotype
Precision Medicine
Translational Medical Research
Vocabulary
Nucleic Acid Databases
146 Citations (Scopus)

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., Zuchner, S. L., 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

Mutation
DNA-Binding Proteins
Hyalin
Phase Transition
Amyotrophic Lateral Sclerosis
8 Citations (Scopus)

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

Uniparental Disomy
Exome
Motor Neurons
Ataxia
Rare Diseases
2016
12 Citations (Scopus)

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

Missense Mutation
RNA-Binding Protein FUS
RNA-Binding Proteins
Tooth
Nerve Degeneration
4 Citations (Scopus)

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

Motor Neurons
Phenotype
Menkes Kinky Hair Syndrome
Myostatin
Myogenin