Results 101 to 110 of about 2,510,688 (301)

Spinal muscular atrophy patient iPSC-derived motor neurons have reduced expression of proteins important in neuronal development [PDF]

, 2016
This work was supported by The RJAH Institute of Orthopaedics, UK (H.F.), The SMA Trust, UK (H.F.), Cedars-Sinai Institutional startup funds (D.S), California Institute for Regenerative Medicine Grant RT-02040 (D.S.), National Center for Advancing ...
Heidi R. Fuller, Andrew R. Gross, Kaus, Anjoscha, Morris, Glen, Sareen, Dhruv, Glenn E. Morris, Fuller, H, Shirran, Sally Lorna, Catherine H. Botting, Shirran, SL, Botting, Catherine Helen, Dhruv Sareen, Mandefro, Berhan, Botting, CH, Gross, AR, Berhan Mandefro, Fuller, Heidi, Sally L. Shirran, Sareen, S, Morris, GE, Anjoscha S. Kaus, Gross, Andrew, Mandefro, B, Kaus, AS   +23 more
core   +1 more source

Early Clinical, Imaging, and Pathological Characteristics of SRPK3/TTN‐Digenic Myopathy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective SRPK3/TTN‐digenic myopathy was recently established as a skeletal muscle myopathy caused by digenic inheritance. This study characterizes the early clinical presentation of SRPK3/TTN‐digenic myopathy in one previously reported and seven newly identified pediatric patients.
Rotem Orbach, Sandra Donkervoort, Carola Hedberg‐Oldfors, Giovanni Baranello, Dimah Saade, Precilla D'Souza, Ruchee Patel, Eva Michael, A. Reghan Foley, Diana Bharucha‐Goebel, S. Jin Haugland, Meghan McAnally, Omer Abdul Hamid, Katherine Chao, Ellen F. Macnamara, Alan H. Beggs, Anna Sarkozy, Juliane Mueller, Steven A. Moore, Richard S. Finkel, Cynthia J. Tifft, Francesco Muntoni, Anders Oldfors, Carsten G. Bönnemann   +23 more
wiley   +1 more source

Mitochondria and Muscular Diseases [PDF]

Journal of Neurology, Neurosurgery & Psychiatry, 1982
D. Hayes, J. Clark
openaire   +2 more sources

Neurovascular Contacts in the Pathophysiology of Neuralgic Amyotrophy: An Observational Study

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Neuralgic amyotrophy (NA) is a prevalent, monophasic, multifocal immune‐mediated neuropathy. A distinctive characteristic of the disease is the occurrence of nerve or fascicle constrictions and torsions (NA‐associated focal nerve lesions, NAFL). The pathophysiology underlying this phenomenon remains to be fully elucidated.
Johannes Fabian Holle, Andreas Leha, Volker Limmroth, Wolfram Windisch, Maximilian Zimmermann   +4 more
wiley   +1 more source

Duchenne muscular dystrophy: an historical treatment review

Arquivos de Neuro-Psiquiatria
In this review, we discuss the therapies used in the treatment of patients with Duchenne muscular dystrophy since the first description of the disease.
Lineu Cesar Werneck, Paulo José Lorenzoni, Renata Dal-Prá Ducci, Otto Hernández Fustes, Cláudia Suemi Kamoi Kay, Rosana Herminia Scola   +5 more
doaj   +1 more source

Association Between Motor Pathway Damage and Motor Deficit in Upper and Lower Limb in People With MS

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Corticospinal tract damage is common in people with MS, but the degree of clinical symptoms varies. We hypothesize that corticospinal tract lesions are more extensive and severe in people with MS with motor impairments in both upper and lower limbs.
Mathilde Liffran, Malo Gaubert, Alice Dufey, Elise Bannier, Audrey Rico, Jean‐Christophe Ferré, Raphaël Chouteau, Laure Michel, Emmanuelle Le Page, Virginie Callot, Bertrand Audoin, Sarah Demortière, Benoît Combès, Anne Kerbrat   +13 more
wiley   +1 more source

Applying genome-wide CRISPR-Cas9 screens for therapeutic discovery in facioscapulohumeral muscular dystrophy

, 2020
Full author list omitted for brevity. For the full list of authors, see article.The emergence of CRISPR-Cas9 gene-editing technologies and genome-wide CRISPR-Cas9 libraries enables efficient unbiased genetic screening that can accelerate the process of ...
Kunkel, Louis M., King, Oliver D., Lek, Angela, DeSimone, Alec   +3 more
core   +1 more source

Clinical Impact of NOTCH3 Variant Location After First Stroke in CADASIL

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Despite its monogenic origin, Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy exhibits marked variability in clinical expression and severity. Variants in the NOTCH3 gene, within epidermal growth factor‐like repeat domains 1–6 or 7–34, are known to influence disease onset, but their impact ...
Léa Aguilhon, Hugues Chabriat, Dominique Hervé, Stéphanie Guey, Sophie Tezenas Du Montcel, Juliette Ortholand   +5 more
wiley   +1 more source

Editorial: Novel Mechanisms of Epileptogenesis and Its Inspired Pharmaceutical Treatments for Epilepsy

Frontiers in Neurology, 2022
Antonella Riva, Antonella Riva, Pasquale Striano, Pasquale Striano   +3 more
doaj   +1 more source

Molecular diagnosis of muscular diseases in outpatient clinics: A Canadian perspective. [PDF]

Neurol Genet, 2020
Thuriot F, Gravel E, Buote C, Doyon M, Lapointe E, Marcoux L, Larue S, Nadeau A, Chénier S, Waters PJ, Jacques PÉ, Gravel S, Lévesque S.   +12 more
europepmc   +1 more source