Results 101 to 110 of about 189,072 (321)

Intrafamilial phenotypic variability of DNAJB6 mutation associated autosomal dominantly inherited myopathy: a family report and literature review

Chinese Journal of Contemporary Neurology and Neurosurgery, 2021
Objective To summarize the clinical phenotypes and genetic mutations of DNAJB6 related myopathies. Methods We retrospectively reviewed the clinical information, laboratory tests, muscle MRIs, electromyography results, muscle pathology examinations and ...
LI Fan, YU Meng, XIE Zhi⁃ying, WANG Qing⁃qing, LIU Jing, ZHANG Wei, LÜ He, YUAN Yun, WANG Zhao⁃xia   +8 more
doaj  

Serum enzyme studies in muscle disease: Part II Serum creatine kinase activity in muscular dystrophy and in other myopathic and neuropathic disorders [PDF]

, 1964
John Pearce, R. J. Pennington, J. N. Walton   +2 more
openalex   +1 more source

Mitochondrial DNA disorders in neuromuscular diseases in diverse populations

Annals of Clinical and Translational Neurology, EarlyView.
Abstract Neuromuscular features are common in mitochondrial DNA (mtDNA) disorders. The genetic architecture of mtDNA disorders in diverse populations is poorly understood. We analysed mtDNA variants from whole‐exome sequencing data in neuromuscular patients from South Africa, Brazil, India, Turkey and Zambia. In 998 individuals, there were two definite
Fei Gao, Katherine R Schon, Jana Vandrovcova, Özlem Yayıcı Köken, Sharika Raga, Kireshnee Naidu, Maryke Schoonen, Nimita Rani, Pedro Tomaselli, Dipti Baskar, Musambo Kapapa, Ipek Polat, Lindsay A Wilson, Kumarasamy Thangaraj, Uluç Yiş, Bevinahalli N Nandeesh, David Bearden, Michelle Kvalsund, Franclo Henning, Seena Vengalil, Atchayaram Nalini, Claudia F. R. Sobreira, Wilson Marques, Haluk Topoloğlu, Michael G Hanna, Sireesha Yareeda, Venugopalan Y Vishnu, Francois H van der Westhuizen, Izelle Smuts, Surita Meldau, Jo Wilmshurst, Büşranur Çavdarlı, Jeannine Heckmann, Patrick F Chinnery, Rita Horvath   +34 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

Heterozygous variants in AP4S1 are not associated with a neurological phenotype

Annals of Clinical and Translational Neurology, EarlyView.
Abstract Biallelic loss‐of‐function variants in AP4S1 cause childhood‐onset hereditary spastic paraplegia. A recent report suggested that heterozygous AP4S1 variants lead to a syndrome of lower limb spasticity and dysregulation of sphincter function. We critically evaluate this claim against clinical observations in 28 heterozygous carriers of the same
Vicente Quiroz, Umar Zubair, Luca Schierbaum, Amy Tam, Nicole Battaglia, Joshua Rong, Habibah A. P. Agianda, Julian E. Alecu, Kathryn Yang, Darius Ebrahimi‐Fakhari   +9 more
wiley   +1 more source

Immune-mediated Necrotizing Myopathy With Increased Creatine Phosphokinase and Positive Signal Recognition Particle: A Case Report

Caspian Journal of Neurological Sciences, 2022
Background: Knowledge about Immune-Mediated Necrotizing Myopathy (IMNM) has received significantly attention in recent years. In this study, we report a rare case of IMNM with increased Creatine Phosphokinase (CPK) and positive Signal Recognition ...
Seyed Mohammad Masoud Hojati, Payam Saadat, Shayan Alijanpour   +2 more
doaj  

A test of nerve conduction to muscles of the shoulder girdle as an aid in the diagnosis of proximal neurogenic and muscular disease [PDF]

, 1964
M. M. Gassel
openalex   +1 more source

Skin calcium deposits in primary familial brain calcification: A novel potential biomarker

Annals of Clinical and Translational Neurology, EarlyView.
Abstract Objective Primary Familial Brain Calcification (PFBC) is a rare neurodegenerative disorder characterized by small vessel calcifications in the basal ganglia. PFBC is caused by pathogenic variants in different genes and its physiopathology is still largely unknown. Skin vascular calcifications have been detected in single PFBC cases, suggesting
Aron Emmi, Giulia Bonato, Aleksandar Tushevski, Cinzia Bertolin, Francesco Cavallieri, Andrea Porzionato, Angelo Antonini, Leonardo Salviati, Miryam Carecchio   +8 more
wiley   +1 more source

Slow gait speed for two years, weakness of lower limbs for one year

Chinese Journal of Contemporary Neurology and Neurosurgery, 2019
DOI：10.3969/j.issn.1672-6731.2019.09 ...
Hao WU, Zhi-hong SHI, Tong HAN, YAN Xiao-ling, Yong JI   +4 more
doaj  

Identification of Potential Clusters of Signs and Symptoms to Prioritize Patients’ Eligibility for AADCd Screening by 3-OMD Testing: An Italian Delphi Consensus

Behavioural Neurology
Introduction. AADCd is an ultrarare, underdiagnosed neurometabolic disorder for which a screening test (3-OMD dosing on dried blood spot (DBS)) and targeted gene therapy (authorized in the EU and the UK) are available. Therefore, it is mandatory to raise
Carlotta Spagnoli, Roberta Battini, Filippo Manti, Duccio Maria Cordelli, Andrea Pession, Melissa Bellini, Andrea Bordugo, Gaetano Cantalupo, Antonella Riva, Pasquale Striano, Marco Spada, Francesco Porta, Carlo Fusco   +12 more
doaj   +1 more source