Results 91 to 100 of about 16,504 (255)

Genetic and Structural Variations in Czech Patients With Congenital Myopathies

Clinical Genetics, Volume 108, Issue 6, Page 678-683, December 2025.
We present 79 unrelated patients with genetically confirmed congenital myopathy (CM). A total of 113 mutant alleles carrying 97 different variants with a presumed pathogenic effect were identified. All but five variants were small scale. The mode of inheritance was autosomal dominant (AD) (44.3%), autosomal recessive (AR) (43.0%), and X‐linked (XL) (12.
Jana Zídková, Barbora Lauerová, Lívie Mensová, Tereza Kramářová, Johana Kopčilová, Kamila Réblová, Magdaléna Soukup Vodičková, Martina Hujňáková, Jana Haberlová, Marie Rohlenová, Radim Mazanec, Jana Šoukalová, Renata Gaillyová, Emílie Vyhnálková, Miroslava Balaščaková, Pavlína Danhofer, Lenka Juříková, Dagmar Grečmalová, Andrea Gřegořová, Pavlína Plevová, Martina Langová, Tomáš Honzík, Martin Magner, Martina Klincová, Pavla Solařová, Mária Šenkeříková, Lenka Fajkusová   +26 more
wiley   +1 more source

Domiciliary nasal respiratory support : first experiences in Malta [PDF]

, 1997
Nasal respiratory support is a non-invasive alternative to conventional assisted ventilation with endotracheal intubation, or the more cumbersome negative pressure ventilators.
Camilleri, R., Galea Debono, Anthony, Montefort, Stephen   +2 more
core  

Multisystem proteinopathy due to a homozygous p.Arg159His VCP mutation : a tale of the unexpected [PDF]

, 2020
ObjectiveTo assess the clinical, radiologic, myopathologic, and proteomic findings in a patient manifesting a multisystem proteinopathy due to a homozygous valosin-containing protein gene (VCP) mutation previously reported to be pathogenic in the ...
Azmi, A, Baets, J, Clemen, CS, De Bleecker, Jan, De Jonghe, P, De Ridder, W, Eichinger, L, Hofmann, A, Johnson, K, Maudsley, S, Schröder, R, Straub, V, Töpf, A   +12 more
core   +1 more source

Counting the Cost: The Hidden Financial Realities of Neuromuscular Disease Through Patient and Family Perspectives

Health Expectations, Volume 28, Issue 6, December 2025.
ABSTRACT Introduction Neuromuscular diseases (NMDs) impose multifaceted challenges on individuals and their families, often resulting in significant medical and non‐medical expenses. While cost‐of‐illness (COI) studies provide valuable quantitative data, few explore the lived experience of financial strain.
Homira Osman, Zainab Adamji, Stacey Lintern, Ian C. Smith, Alyssa Grant, Lola E.R. Lessard, Hanns Lochmuller, Hugh McMillan, Kathryn Selby, Gerald Pfeffer, Lawrence Korngut, Cynthia Gagnon, Kednapa Thavorn, Jodi Warman‐Chardon   +13 more
wiley   +1 more source

The Expanding Clinical and Genetic Spectrum of Muscle Glycogen Storage Disease 0, (GSD0B)

American Journal of Medical Genetics Part A, Volume 197, Issue 11, November 2025.
ABSTRACT Glycogen storage disorders are a group of genetic disorders affecting glucose homeostasis in the body. Muscular glycogen stores are essential for liberating glucose for energy supply during bursts of activity and sustained muscle work. Muscle glycogen storage disease 0 (GSD0B) is associated with biallelic variants in GYS1 causing muscular ...
Sarah Donoghue, Smitha Kumble, Pontus Wasling, Lars Alberg, Pia Linton‐Dahlöf, Yilmaz Yildiz, İlker Ertuğrul, Terry Derks, Dwight Koeberl, Emmeline Lagrange, Sabrina Vergnaud, Lidia Pezzani, Maria Iascone, Zornitza Stark, Adam M. Bournazos, Sandra T. Cooper, Gittan Kollberg   +16 more
wiley   +1 more source

Expanded carrier screening: A current perspective [PDF]

, 2018
Prenatal carrier screening has expanded to include a large number of genes offered to all couples considering pregnancy or with an ongoing pregnancy.
Al-Kouatly, Hb, Berghella, V, Carbone, Luigi, D'Alessandro, P, De Vivo, V, Esposito, G, Giuliani, Arduino, Maruotti, Gm, Mastantuoni, Enrica, Paternoster, M, Raffone, A, Saccone, G, Zullo, F.   +12 more
core   +1 more source

Autosomal recessive limb-girdle muscular dystrophy type 2J [PDF]

, 2020
INSERM
openalex   +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  

Generation of a lamin A/C knockout human induced pluripotent stem cell line (ZJULLi007-A) via CRISPR/Cas9

Stem Cell Research
Lamin A/C is a protein encoded by the LMNA gene and belongs to the nuclear lamina protein family. Mutations in the LMNA gene lead to several diseases: Emery-Dreifuss muscular dystrophy, familial partial lipodystrophy, limb girdle muscular dystrophy ...
Dandan Liu, Jiaxi Shen, Zongkuai Yang, Hangping Fan, Hao Wang, Ping Liang, Tingyu Gong   +6 more
doaj   +1 more source

Life-long course and molecular characterization of the original Dutch family with epidermolysis bullosa simplex with muscular dystrophy due to a homozygous novel plectin point mutation [PDF]

, 2004
Plectin is one of the largest and most versatile cytolinker proteins known. Cloned and sequenced in 1991, it was later shown to have nonsense mutations in recessive epidermolysis bullosa with muscular dystrophy.
De Groot, WP, De Weerdt, CJ, Gedde-Dahl, T, Hoyheim, B, Jonkman, MF, Koss-Harnes, D, Nikolic, B, Wiche, G   +7 more
core   +1 more source