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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
2018

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

2 Scopus citations

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., Züchner, S., Schüle, R., De Jonghe, P. & Synofzik, M., Feb 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., Brice, A., Durr, A., Hammerschmidt, M., Stevanin, G. & Wirth, B., Feb 1 2018, In : Neurology: Genetics. 4, 1, e209.

Research output: Contribution to journalArticle

10 Scopus citations

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., Züchner, S., Krägeloh-Mann, I., Baets, J., de Jonghe, P., Bauer, P., Chen, S. R. W., Schöls, L. & Schüle, R., Nov 1 2018, In : European Journal of Human Genetics. 26, 11, p. 1623-1634 12 p.

Research output: Contribution to journalArticle

12 Scopus citations

Erratum: SCO2 mutations cause early-onset axonal Charcot-Marie-Tooth disease associated with cellular copper deficiency (Brain (2018) 141 (662-672) DOI: 10.1093/brain/awx369)

Rebelo, A., Dimah, S., Pereira, C., Farooq, A., Huff, T., Abreu, L., Moraes, C., Mnatsakanova, D., Mathews, K., Yang, H., Schon, E., Zuchner, S. & Shy, M., Apr 1 2018, In : Brain. 141, 4, e32.

Research output: Contribution to journalComment/debate

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., Züchner, S., 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

ITALSGEN Consortium, Genomic Translation for ALS Care (GTAC) Consortium, ALS Sequencing Consortium, NYGC ALS Consortium, 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, Mar 21 2018, In : Neuron. 97, 6, p. 1268-1283.e6

Research output: Contribution to journalArticle

102 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

1 Scopus citations

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., Schule, R., Bermudez, C., Hussain, S., Cooley, A., Wallace, M., Zhang, J., Taylor, J. P., Benatar, M. & 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

2 Scopus citations

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

7 Scopus citations

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

Capel, E., Vatier, C., Cervera, P., Stojkovic, T., Disse, E., Cottereau, A. S., Auclair, M., Verpont, M. C., Mosbah, H., Gourdy, P., Barraud, S., Miquel, A., Züchner, S., Bonnefond, A., Froguel, P., Christin-Maitre, S., Delemer, B., Fève, B., Laville, M., Robert, J. & 4 others, Tenenbaum, F., Lascols, O., Vigouroux, C. & Jéru, I., Nov 1 2018, In : Journal of Clinical Lipidology. 12, 6, p. 1420-1435 16 p.

Research output: Contribution to journalArticle

7 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

14 Scopus citations

Mutations in BAG3 cause adult-onset Charcot-Marie-Tooth disease

Shy, M., Rebelo, A. P., Feely, S. M., Abreu, L. A., Tao, F., Swenson, A., Bacon, C. & Zuchner, S. L., Mar 1 2018, In : Journal of Neurology, Neurosurgery and Psychiatry. 89, 3, p. 313-316 4 p.

Research output: Contribution to journalLetter

7 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., 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

11 Scopus citations

Perspectives on the genomics of HSP beyond mendelian inheritance

Bis-Brewer, D. M. & Züchner, S., Nov 26 2018, In : Frontiers in Neurology. 9, NOV, 958.

Research output: Contribution to journalReview article

8 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

17 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., Züchner, S., De Jonghe, P., Baets, J., Shy, M. E., Espinós, C., Demeler, B., Antonellis, A. & Francklyn, C., Mar 2018, In : Human mutation. 39, 3, p. 415-432 18 p.

Research output: Contribution to journalArticle

10 Scopus citations

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

12 Scopus citations

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

1 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

Zebrafish: A Pharmacogenetic Model for Anesthesia

Bedell, V., Buglo, E., Marcato, D., Pylatiuk, C., Mikut, R., Stegmaier, J., Scudder, W., Wray, M., Züchner, S., Strähle, U., Peravali, R. & Dallman, J. E., 2018, Methods in Enzymology. Eckenhoff, R. G. & Dmochowski, I. J. (eds.). Academic Press Inc., p. 189-209 21 p. (Methods in Enzymology; vol. 602).

Research output: Chapter in Book/Report/Conference proceedingChapter

1 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

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

343 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

180 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., 2017, In : Molecular Genetics and Genomic Medicine. 5, 3, p. 280-286 7 p.

Research output: Contribution to journalArticle

10 Scopus citations