Results 51 to 60 of about 4,222 (202)

The Molecular Diagnosis of Myopathies: Integrating Genomic, Proteomic, and Pathological Insights Toward Precision Medicine

Clinical Genetics, EarlyView.
Advances in genomic, proteomic, and transcriptomic technologies are transforming the diagnosis of genetic myopathies. When integrated with traditional muscle pathology, multi‐omics approaches improve diagnostic yield, clarify disease mechanisms, and support more precise, mechanism‐based therapeutic strategies for patients with neuromuscular disorders ...
Ludmila Alem, Denise de Abreu Pereira, Katia Carneiro   +2 more
wiley   +1 more source

Shoulder Rotation Test: A New Test for Discriminating Between Functional and Structural Weakness

Brain and Behavior, Volume 16, Issue 4, April 2026.
We introduce the shoulder rotation test, a simple bedside test combining the MRC scoring of shoulder internal rotation (IR) and external rotation (ER), for discriminating between functional weakness (FW) and structural weakness (SW) of the upper limbs.
Takamichi Kanbayashi, Masahiro Sonoo
wiley   +1 more source

CRISPR Activation Reveals the Spliceogenicity of an Intronic NEB Variant in Fetuses With Arthrogryposis Multiplex Congenita 6

Clinical Genetics, Volume 109, Issue 4, Page 772-777, April 2026.
CRISPR activation of NEB in fibroblasts, followed by RNA‐sequencing, documents spliceogenic effects of a NEB intronic variant. The assay enabled variant reclassification as likely pathogenic, providing molecular diagnosis in fetuses with Arthrogryposis multiplex congenita 6.
Doriana Misceo, Thorkild Terkelsen, Sara Margrete Bøen Keim, Pål Marius Bjørnstad, Mari Elen Strand, Vivian Cecilie Orszagh, Uffe Birk Jensen, Eirik Frengen   +7 more
wiley   +1 more source

Further delineation of FKBP14-related Ehlers-Danlos syndrome: a patient with early vascular complications and non-progressive kyphoscoliosis, and literature review [PDF]

, 2016
FKBP14-related Ehlers-Danlos syndrome (EDS) is an extremely rare recessive connective tissue disorder described for the first time in 2012 by Baumann and coworkers.
Aldeeri, Baumann, Beighton, Colombi, Galat, Murray, Rohrbach, Steinmann   +7 more
core   +1 more source

ACTA1‐Related Adult‐Onset Scapuloperoneal Myopathy With Cores and Rods

Neuropathology and Applied Neurobiology, Volume 52, Issue 2, April 2026.
We report a patient with an adult‐onset, slowly progressive, ACTA1‐related scapuloperoneal myopathy with cores and rods, determined by the heterozygous variant NM_001100.4:c.1001C > T, p.(Pro334Leu). The scapuloperoneal phenotype could represent a distinct subcategory, and the characterisation of this patient with a less severe, different clinical ...
Alexandru Caramizaru, Marion Onnée, Sergey Nikitin, Amelia Dobrescu, Gianmarco Severa, Aysylu Murtazina, Andoni Urtizberea, Jean‐Pascal Lefaucheur, Robert‐Yves Carlier, Corinne Metay, Edoardo Malfatti   +10 more
wiley   +1 more source

Calcium Homeostasis in Myogenic Differentiation Factor 1 (MyoD)-Transformed, Virally-Transduced, Skin-Derived Equine Myotubes [PDF]

, 2014
Dysfunctional skeletal muscle calcium homeostasis plays a central role in the pathophysiology of several human and animal skeletal muscle disorders, in particular, genetic disorders associated with ryanodine receptor 1 (RYR1) mutations, such as malignant
A Hovnanian, A Klein, A Margreth, Atsushi Asakura, C Drogemuller, Cesare M. Terracciano, CM Isgren, DR Laver, E Zvaritch, EC McKenzie, EC McKenzie, F Ghassemi, FL Cole, G Avila, G Cherednichenko, Georges Vassaux, GG Harrison, GL Walmsley, H Gissel, H Jungbluth, H Weintraub, H Zhou, H Zhou, H Zhou, HK DiMaio Knych, J Choi, J Fujii, J Garcia, J Huang, J Larsen, J Ma, J Tong, JM Eltit, JM Eltit, JM Healy, JM MacLeay, JR Lopez, JR Lopez, JR Mickelson, K Anderson, K Jurkat-Rott, KP Glahn, L Csernoch, L Lattanzi, LR Lentz, M Aleman, M Fernandez-Fuente, M Fernandez-Fuente, MA Denborough, Marta Fernandez-Fuente, MC Roberts, MG Larach, MH Court, MJ Hull, MM Upjohn, N Dlamini, N Tilgen, NC Voermans, NM Burton, Pilar Martin-Duque, PJ Lynch, PK Dranchak, R Yasin, RA Bannister, RA Bannister, Richard J. Piercy, S Ducreux, S Gyorke, S Hollingworth, Susan C. Brown, T Abe, T Yang, TB Rogers, TC He, TV McCarthy, X Zhao   +75 more
core   +5 more sources

Coincidence of Nemaline Myopathy and Agenesis of Corpus Callosum in a Newborn Infant: Case Report

Journal of Behçet Uz Children's Hospital, 2019
The diagnosis of the hypotonia at the neonatal period is difficult. In the neonatal period, the differential must include acute illnesses and systemic diseases such as sepsis, congestive heart failure and inborn errors of metabolism. Congenital disorders
Sinem Akbay, Esra Ozer, Ozkan Ilhan, Berat Kanar, Seyma Memur, Gulden Diniz, Dilek Cavusoglu, Nihal Olgaç Dündar   +7 more
doaj   +1 more source

Expanding genotype/phenotype of neuromuscular diseases by comprehensive target capture/NGS [PDF]

, 2015
published_or_final_versio
Chen, WT, Chou, CH, Feng, Y, Hsu, YY, Huang, HD, Jong, YJ, Lam, CW, Liang, WC, Lin, TS, Tian, X, Wang, J, Wong, LJ, Zhang, VW   +12 more
core   +1 more source

Nemaline myopathy-related skeletal muscle α-actin (ACTA1) mutation, Asp286Gly, prevents proper strong myosin binding and triggers muscle weakness. [PDF]

PLoS ONE, 2012
Many mutations in the skeletal muscle α-actin gene (ACTA1) lead to muscle weakness and nemaline myopathy. Despite increasing clinical and scientific interest, the molecular and cellular pathogenesis of weakness remains unclear.
Julien Ochala, Gianina Ravenscroft, Nigel G Laing, Kristen J Nowak   +3 more
doaj   +1 more source

Adult Survival in SMA Type 1: A 23‐Year Journey With Home Ventilation and Multidisciplinary Support

Clinical Case Reports, Volume 14, Issue 3, March 2026.
Diffuse brain atrophy and calvarial hyperostosis in a long‐term survivor of very early onset SMA type 1. ABSTRACT Spinal muscular atrophy (SMA) type 1 is a severe autosomal recessive neuromuscular disorder caused by loss‐of‐function variants in the SMN1 gene, typically leading to death within the first two years without intervention. Long‐term survival
Antonio E. Camelo‐Filho, Renata Monteiro Jovino, Betina S. Tomaz, Paulo R. Nóbrega, Marcelo A. Holanda   +4 more
wiley   +1 more source