Results 51 to 60 of about 7,593 (207)

Analysis of Human Sarcospan as a Candidate Gene for CFEOM1 [PDF]

, 2011
Background: Congenital fibrosis of the extraocular muscles type 1 (CFEOM1) is an autosomal dominant eye movement disorder linked to the pericentromere of chromosome 12 (12p11.2 - q12). Sarcospan is a member of the dystrophin associated protein complex in
Engle, Elizabeth Carson, Kunkel, Louis Martens, O'Brien, Kristine F   +2 more
core   +1 more source

Proteomic Profiling of Myofiber Repair Annexins and Their Role in Duchenne Muscular Dystrophy

PROTEOMICS, EarlyView.
ABSTRACT Myofiber regeneration and membrane repair play crucial roles in maintaining the continuous physiological functioning of the neuromuscular system. A swift and efficient repair mechanism enables the rapid restoration of sarcolemmal integrity following cellular impairment in damaged skeletal muscles.
Paul Dowling, Dounia Bouragba, Elisa Negroni, Capucine Trollet, Margit Zweyer, Dieter Swandulla, Kay Ohlendieck   +6 more
wiley   +1 more source

Whole Exome Sequencing for Romanian Patients With Neurodevelopmental Disorders Through an International Collaboration

Clinical Genetics, EarlyView.
Whole exome sequencing for Romanian patients with neurodevelopmental disorders through an international collaboration—this study has provided a 50% diagnostic yield for patients with NDDs (27 positive results from 54 patients), supporting the implementation of a WES analysis that can identify SNVs, small INDELs, CNVs, and mitochondrial variants ...
Alexandru Caramizaru, Cristina Durac, Andreea Dumitrescu, Alexandru Calota‐Dobrescu, Alix de Becdelièvre, Marina Konyukh, Denise Cassandrini, Hane Lee, Go Hun Seo, Seung Woo Ryu, Mihai Cucu, Iuliana Manuela Dragomir, Andreea Catana, Homa Tajsharghi, Edoardo Malfatti, Florin Burada, Amelia Dobrescu   +16 more
wiley   +1 more source

Bone health in adults with non‐ambulatory neuromuscular disorders: scoping review of risk factors, diagnosis and management

Internal Medicine Journal, EarlyView.
Abstract Background Non‐ambulatory adults have an increased risk of osteoporosis and fractures due to reduced weight‐bearing and diminished neuromuscular stimulation, resulting in substantial morbidity and mortality. Aims This scoping review aimed to systematically evaluate risk factors, diagnostic indicators and management strategies for optimising ...
Thomas Bailey, Carolyn Droste, John A. Eisman, Steven G. Faux, Arnagretta Hunter   +4 more
wiley   +1 more source

Next-generation sequencing identifies transportin 3 as the causative gene for LGMD1F.

PLoS ONE, 2013
Limb-girdle muscular dystrophies (LGMD) are genetically and clinically heterogeneous conditions. We investigated a large family with autosomal dominant transmission pattern, previously classified as LGMD1F and mapped to chromosome 7q32.
Annalaura Torella, Marina Fanin, Margherita Mutarelli, Enrico Peterle, Francesca Del Vecchio Blanco, Rossella Rispoli, Marco Savarese, Arcomaria Garofalo, Giulio Piluso, Lucia Morandi, Giulia Ricci, Gabriele Siciliano, Corrado Angelini, Vincenzo Nigro   +13 more
doaj   +1 more source

Regulation of the dystrophin-associated glycoprotein complex composition by the metabolic properties of muscle fibres [PDF]

, 2019
The dystrophin-glycoprotein complex (DGC) links the muscle cytoskeleton to the extracellular matrix and is responsible for force transduction and protects the muscle fibres from contraction induced damage.
C Webster, CJ Cornbrooks, CL Gatchalian, D Jung, JS Rao, LM Kunkel, ML Richmond, U Kuhl, U Kuhl, V Kovanen, V Kovanen, Y Tu   +11 more
core   +3 more sources

Carrier screening in the reproductive setting—Are there medical implications for the heterozygote?—A guide for clinicians

Pregnancy, Volume 2, Issue 3, May 2026.
Abstract Carrier screening for genetic conditions performed preconception or during pregnancy allows identification of fetal risk for inherited autosomal recessive and X‐linked conditions. The goal is to identify at‐risk patients/couples and offer them reproductive options such as preimplantation genetic diagnosis, prenatal testing, or targeted newborn
Emily B. Rosenfeld, Nicole Kasatkin, Bi Liu Yu, Milen Velinov, Justin S. Brandt, Elena Ashkinadze   +5 more
wiley   +1 more source

Generation of an induced pluripotent stem cell (iPSC) line (JUCTCi017-A) from a patient with limb-girdle muscular dystrophy (LGMD) due to a homozygous p.Lue287Ser fs14* mutation in the SGCB gene

Stem Cell Research, 2021
Limb-girdle muscular dystrophies (LGMDs) are a large group of heterogenous genetic diseases characterized by muscle weakness. In this study, an induced pluripotent stem cell (iPSC) line was generated from LGMD patient’s skin dermal fibroblasts, carrying ...
Nidaa A. Ababneh, Raghda Barham, Ban Al-Kurdi, Dema Ali, Nour Sharar, Sabal Al Hadidi, Renata M. Alatoom, Suzan Zalloum, Mohammad H. Gharandouq, Leen Makahleh, Leena N. Alnsour, Hebah Alshahwan, Mohammed El-Khateeb, Abdalla Awidi   +13 more
doaj   +1 more source

Temporal Bayesian classifiers for modelling muscular dystrophy expression data [PDF]

, 2006
The analysis of microarray data from time-series experiments requires specialised algorithms, which take the temporal ordering of the data into account. In this paper we explore a new architecture of Bayesian classifier that can be used to understand how
Hoen, PAC't, Liu, X, Tucker, A, Vinciotti, V   +3 more
core  

Prenatal muscle development in a mouse model for the secondary dystroglycanopathies [PDF]

, 2016
The defective glycosylation of α-dystroglycan is associated with a group of muscular dystrophies that are collectively referred to as the secondary dystroglycanopathies.
A Leschziner, A Matsakas, A Yoshida, AM Beedle, AR Raphael, B Xia, B-V BD de, C Godfrey, C Longman, C Whitmore, CA Schneider, D Merrick, D Montarras, DE Michele, DJ Blake, DJ Lefeber, E Hohenester, E Stevens, F Muntoni, H Yin, J Reeuwijk van, J Ross, JB Miller, K Buysse, K Kobayashi, KM Wright, KP Campbell, L Wells, M Brockington, M Brockington, M Kanagawa, M Kanagawa, M Narusawa, M Ontell, MD Henry, MJ Duxson, MM Goddeeris, MR Ackroyd, MR Ackroyd, O Armand, S Chan, S Cirak, S Costanzo Di, S Sato, S Schiaffino, S Sugita, SC Brown, T Roscioli, T Willer, TJ Hawke   +49 more
core   +1 more source