Centre for Neuromuscular & Neurological Disorders

Fingerprint The fingerprint is based on mining the text of the scientific documents related to the associated persons. Based on that an index of weighted terms is created, which defines the key subjects of research unit

Dystrophin Medicine & Life Sciences
Inclusion Body Myositis Medicine & Life Sciences
Multiple Sclerosis Medicine & Life Sciences
Exons Medicine & Life Sciences
Muscles Medicine & Life Sciences
Duchenne Muscular Dystrophy Medicine & Life Sciences
Transcranial Magnetic Stimulation Medicine & Life Sciences
Antisense Oligonucleotides Medicine & Life Sciences

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Projects 2001 2020

Research Output 1979 2019

A Common Deep Intronic Mutation Causing Collagen VI-Related Muscular Dystrophy: Validation of Splice-Modulating Approaches In Vitro and Development of a Mouse Model

Bolduc, V., Foley, A. R., Solomon-Degefa, H., Sarathy, A., Donkervoort, S., Hu, Y., Chen, G. S., Nalls, M., Zhou, H., Aguti, S., Cummings, B. B., Lek, M., Tukiainen, T., Marshall, J. L., Regev, O., Marek-Yagel, D., Sarkozy, A., Butterfield, R. J., Jou, C., Jimenez-Mallebrera, C. & 15 othersLi, Y., Cheng, J., Garrett, L., Gartioux, C., Mamchaoui, K., Allamand, V., Gualandi, F., Ferlini, A., Hanssen, E., Wilton, S. D., Lamande, S. R., MacArthur, D. G., Wagener, R., Muntoni, F. & Bonnemann, C. G., 22 Apr 2019, In : Molecular Therapy. 27, 4, p. 304-304 1 p.

Research output: Contribution to journalAbstract/Meeting Abstract

Altered myogenesis and premature senescence underlie human TRIM32-related myopathy

Servián-Morilla, E., Cabrera-Serrano, M., Rivas-Infante, E., Carvajal, A., Lamont, P. J., Pelayo-Negro, A. L., Ravenscroft, G., Junckerstorff, R., Dyke, J. M., Fletcher, S., Adams, A. M., Mavillard, F., Fernández-García, M. A., Nieto-González, J. L., Laing, N. G. & Paradas, C., 1 Mar 2019, In : Acta Neuropathologica Communications. 7, 1, 1 p.

Research output: Contribution to journalArticle

Open Access
Muscle Development
Muscular Diseases
Muscles
Bardet-Biedl Syndrome
Mutation
5 Citations (Scopus)

Association of Initial Disease-Modifying Therapy With Later Conversion to Secondary Progressive Multiple Sclerosis

MSBase Study Grp, 15 Jan 2019, In : JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION. 321, 2, p. 175-187 13 p.

Research output: Contribution to journalArticle

Datasets

Weight loss at 24-hours after permanent MCAO.

Milani, D. (Creator), Bakeberg, M. (Creator), Cross, J. (Creator), Clark, V. W. (Creator), Anderton, R. S. (Creator), Blacker, D. (Creator), Knuckey, N. (Creator), Meloni, B. (Creator), Public Library of Science (PLoS), 7 Mar 2018

Dataset

Photomicrographs of histological sections of kidney and liver tissue.

Milani, D. (Creator), Bakeberg, M. (Creator), Cross, J. (Creator), Clark, V. W. (Creator), Anderton, R. S. (Creator), Blacker, D. (Creator), Knuckey, N. (Creator), Meloni, B. (Creator), Public Library of Science (PLoS), 7 Mar 2018

Dataset

Data from: Functional improvement of dystrophic muscle by repression of utrophin: let-7c interaction

Mishra, M. K. (Creator), Loro, E. (Creator), Sengupta, K. (Creator), Wilton, S. (Creator), Khurana, T. S. (Creator), Figshare, 16 Sep 2017

Dataset