Results 41 to 50 of about 1,742,640 (300)

A novel neuromuscular form of glycogen storage disease type IV with arthrogryposis, spinal stiffness and rare polyglucosan bodies in muscle

, 2016
Glycogen storage disease type IV (GSD IV) is an autosomal recessive disorder causing polyglucosan storage in various tissues. Neuromuscular forms present with fetal akinesia deformation sequence, lethal myopathy, or mild hypotonia and weakness.
Gitiaux, C., Barnerias, C., Oldfors, Anders,, Carlier, R. Y., Romero, N. B., Oldfors Hedberg, Carola,, Benezit, A., Quijano-Roy, S., Malfatti, E.   +8 more
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Do core stability exercises improve upper limb function in chronic stroke patients?

The Egyptian Journal of Neurology, Psychiatry and Neurosurgery, 2019
Background Upper limb paresis is a common problem in patients with stroke. Objectives To determine the effect of core stability exercises on upper limb function and trunk balance in hemiparetic patients.
H. El-Nashar, A. ElWishy, H. Helmy, R. El-Rwainy   +3 more
doaj   +1 more source

Efficacy of transmastoidal galvanic stimulation on recovery outcomes in patients with unilateral peripheral vestibular disorders: a randomized controlled trial

The Egyptian Journal of Neurology, Psychiatry and Neurosurgery, 2020
Background Peripheral vestibular disorders are common disorders among population with increased prevalence with age advancement, manifested by balance disorders and postural instability that negatively affect daily activities and social participation ...
Reham Ali Mohamed Ali Ahmed, Ebtesam Mohamed Fahmy, Amina Mohamed Awad, Mona Mohamed Hamdy, Hussein Ahmed Abd Rahman Shaker   +4 more
doaj   +1 more source

Optimized allele-specific silencing of the dominant-negative COL6A1 G293R substitution causing collagen VI-related dystrophy

Molecular Therapy: Nucleic Acids
Collagen VI-related dystrophies (COL6-RDs) are a group of severe, congenital-onset muscular dystrophies for which there is no effective causative treatment. Dominant-negative mutations are common in COL6A1, COL6A2, and COL6A3 genes, encoding the collagen
Astrid Brull, Apurva Sarathy, Véronique Bolduc, Grace S. Chen, Riley M. McCarty, Carsten G. Bönnemann   +5 more
doaj   +1 more source

Association of two mutations in the RYR1 gene in central core disease: Recessive or modifying effect?

, 2013
Univ São Paulo, Biosci Inst, Human Genome Res Ctr, Lab Muscle Prot & Comparat Histopathol, São Paulo, BrazilFed Univ São Paulo Unifesp, Dept Neurol & Neurosurg, Div Neuromuscular Disorders, São Paulo, BrazilFed Univ São Paulo Unifesp, Dept Neurol ...
Yamamoto, L. U., Pavanello, R. C., Cuperman, T., Zatz, M., Canovas, M. [UNIFESP], Vainzof, M., Oliveira, A. S. [UNIFESP], Alcantara, S.   +7 more
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Classification of neuromuscular disorders used in study analysis.

, 2023
Classification of neuromuscular disorders used in study analysis.
Niranjanan Nirmalananthan (11890334), Tess Harris (480258), Elizabeth Limb (3495062), Derek G. Cook (7638707), Iain M. Carey (11820053), Umar A. R. Chaudhry (11648668), Stephen DeWilde (480259)   +6 more
core   +1 more source

Residual tail twisting in ascidian larvae is stabilized by asymmetric myofibrils that resist bilateral symmetry restoration

FEBS Letters, EarlyView.
Ascidian Ciona larvae initially show strong clockwise tail twisting, which is largely corrected during development. However, a small residual twist remains. This study shows that organized helical myofibrils in tail muscles mechanically stabilize this residual asymmetry, preventing complete restoration of bilateral symmetry and revealing how embryos ...
Yuki S. Kogure, Misaki K. Nishio, Satoru Okuda, Kohji Hotta   +3 more
wiley   +1 more source

Risdiplam: therapeutic effects and tolerability in a small cohort of 6 adult type 2 and type 3 SMA patients

Orphanet Journal of Rare Diseases
Background Risdiplam is a validated treatment for adult SMA patients, but clear guidelines concerning functional assessment at baseline and during the follow-up are still limited, especially in terms of sensible and validated outcome measures able to ...
Gianmarco Severa, Maria del Carmen Alfaro, Christophe Alimi Ichola, Hussein Shoaito, Sarah Souvannanorath, François-Jerôme Authier, Edoardo Malfatti   +6 more
doaj   +1 more source

Late-onset thymidine kinase 2 deficiency: a review of 18 cases

Orphanet Journal of Rare Diseases, 2019
Background TK2 gene encodes for mitochondrial thymidine kinase, which phosphorylates the pyrimidine nucleosides thymidine and deoxycytidine. Recessive mutations in the TK2 gene are responsible for the ‘myopathic form’ of the mitochondrial depletion ...
Cristina Domínguez-González, Aurelio Hernández-Laín, Eloy Rivas, Ana Hernández-Voth, Javier Sayas Catalán, Roberto Fernández-Torrón, Carmen Fuiza-Luces, Jorge García García, Germán Morís, Montse Olivé, Frances Miralles, Jordi Díaz-Manera, Candela Caballero, Bosco Méndez-Ferrer, Ramon Martí, Elena García Arumi, María Carmen Badosa, Jesús Esteban, Cecilia Jimenez-Mallebrera, Alberto Blazquez Encinar, Joaquín Arenas, Michio Hirano, Miguel Ángel Martin, Carmen Paradas   +23 more
doaj   +1 more source

Cardiac Manifestations of Neuromuscular Disease

, 2021
Neuromuscular diseases are a group of complex multisystem disorders that commonly and prominently affect striated muscle. Cardiac involvement in neuromuscular diseases namely conduction disorders, ventricular arrhythmias and cardiomyopathy with its ...
Russo V., Papa A. A., Nigro G.
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