Results 121 to 130 of about 2,421,984 (303)

Establishment and application of clinical biobanks in treating neuromuscular diseases

, 2016
Neuromuscular diseases refer to a group of diseases mainly involving peripheral nerve, neuromuscular junction (NMJ) and muscle. Except for the traditional clinical diagnosis, such as serological tests, neuroelectrophysiological study and pathological ...
Wei ZHANG, Ya-wen ZHAO, Qiu-rong ZHANG
core  

COX14 Variants Are Associated With Mitochondrial Complex IV Deficiency Nuclear Type 10 (MC4DN10)

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT COX14 encodes a transmembrane protein essential for cytochrome c oxidase (COX) complex assembly. A homozygous missense variant in COX14 was reported in three siblings from a single consanguineous family with severe, fatal infantile mitochondrial complex IV deficiency nuclear type 10 (MC4DN10; MIM# 619053).
Elias K. Awad, Emily Waskow, Hari Tunuguntla, Joseph Spinner, Hanna J. Tadros, Lisa T. Emrick, Daniel G. Calame, Fernando Scaglia   +7 more
wiley   +1 more source

LRP4-Related Congenital Myasthenic Syndrome: Clinical, Pathophysiological, and Therapeutic Aspects

Muscles
Congenital Myasthenic Syndrome represents a complex and heterogeneous group of inherited neuromuscular disorders, which result from variants in genes involved in different pathophysiological mechanisms related to the neuromuscular junction.
Felipe Yuji Koyama Azeka, Paulo de Lima Serrano, Daniel Delgado Seneor, Sophia Luiz Calegaretti, Mateus Medeiros Pinheiro, Marcos Vinícius Martins, Leonardo Mobiglia Guilherme, João Paulo Barile, Patrícia Marques Mendes, Lucas Henrique de Moura Rogério Garcia, Maria Júlia Tabosa de Carvalho Galvão, Sofia Mônaco Gama, Renan Brandão Rambaldi Cavalheiro, Igor Braga Farias, Roberta Ismael Lacerda Machado, Wladimir Bocca Vieira De Rezende Pinto, Acary Souza Bulle Oliveira, Paulo Sgobbi   +17 more
doaj   +1 more source

Clinical and functional studies of autoimmune disorders of neuromuscular transmission [PDF]

, 2015
Inherited and acquired disorders of the neuromuscular junction are an important cause of muscle weakness and fatigability. In this thesis I focus on the autoimmune disorders of neuromuscular transmission.
Spillane, J
core  

Antisense Transcription across Nucleotide Repeat Expansions in Neurodegenerative and Neuromuscular Diseases: Progress and Mysteries

, 2020
Unstable repeat expansions and insertions cause more than 30 neurodegenerative and neuromuscular diseases. Remarkably, bidirectional transcription of repeat expansions has been identified in at least 14 of these diseases.
Isabel Silveira, Joana R. Loureiro, Ana F. Castro, José Bessa   +3 more
core   +1 more source

High Diagnosis Rate for Nonimmune Hydrops Fetalis With Prenatal Clinical Genome: Expanded Results From the Hydrops‐Yielding Diagnostic Results of Prenatal Sequencing (HYDROPS) Study

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Nonimmune hydrops fetalis (NIHF) is characterized by abnormal fluid accumulation in ≥ 2 fetal compartments and may be genetic. The incremental diagnostic yield of prenatal exome sequencing (ES) for NIHF following a negative standard workup was previously explored on 22 cases.
Stephanie M. Rice, Mona M. Makhamreh, Sascha Wodoslawsky, Mariella Toro, Elizabeth Critchlow, Brandy Firman, Ruby Liu, Babi Ramesh Nallamilli, Madhuri Hegde, Seth I. Berger, Huda B. Al‐Kouatly   +10 more
wiley   +1 more source

Integrating Genetic Modifier Genotype With Serum Proteomics in Duchenne Muscular Dystrophy Clinical Trials Links LTBP4 Genetic Modifier to IL‐23/CD93 Pathways in Muscle

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Genetic modifiers of Duchenne muscular dystrophy (DMD) that alter disease severity or response to therapy have been reported using natural history or registry data sets of older corticosteroid‐treated patients. We tested associations of genetic modifiers on motor function outcomes in young (4 to < 7 years) steroid naïve clinical trial ...
Utkarsh J. Dang, Yuan Fang, Daniele Sabbatini, Elena Pegoraro, Luca Bello, Paula R. Clemens, Michela Guglieri, John van den Anker, Jesse Damsker, Laura Hagerty, Yetrib Hathout, Michael Ziemba, Lauren Morgenroth, Surajit Bhattacharya, Kanneboyina Nagaraju, Jyoti K. Jaiswal, Eric P. Hoffman   +16 more
wiley   +1 more source

Spinal Involvement in Charge Syndrome: Implications for Management

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT CHARGE syndrome (OMIM #214800) is an autosomal dominant disorder caused by mutations in the CHD7 gene in most cases. Although originally defined by the CHARGE acronym (coloboma, heart defects, choanal atresia, growth restriction, genital hypoplasia, and ear anomalies), the recognized phenotype has expanded considerably to include highly ...
Adriana Gomes, Álvaro Martín‐Rodríguez, Miguel del Campo Casanelles, Marilyn C. Jones, Daniela Carvalho, Lynne M. Bird   +5 more
wiley   +1 more source

Identification of reference microRNAs in skeletal muscle of a canine model of Duchenne muscular dystrophy [version 2; peer review: 2 approved]

Wellcome Open Research
Background Duchenne muscular dystrophy (DMD) is a fatal muscle wasting disease caused by mutations in the dystrophin gene. DE50-MD dogs are an animal model of DMD used as a final translational model for evaluation of promising treatments.
Richard J. Piercy, John C.W. Hildyard, Dominique O. Riddell, Dominic J. Wells, Rachel C.M. Harron   +4 more
doaj   +1 more source

Neuromuscular Disease

Journal of Pediatric Rehabilitation Medicine, 2016
Russell J, Butterfield, Nicholas E, Johnson   +1 more
openaire   +3 more sources