Results 71 to 80 of about 4,222 (202)

Incidence and Prevalence of Congenital Myopathies ‐ A Population‐Based Study From Western Sweden

Annals of Neurology, Volume 99, Issue 2, Page 382-392, February 2026.
Objective Congenital myopathies are a group of rare genetic muscle disorders. Previous studies have estimated point prevalences which only include surviving individuals. Our aim was to perform an epidemiological study with strict inclusion criteria, using modern diagnostic technology to present both incidences and prevalences, and to describe the ...
Eva Michael, Carola Hedberg‐Oldfors, Mar Tulinius, Sara Nordström, Anders Oldfors, Niklas Darin   +5 more
wiley   +1 more source

Dominantly Inherited Nemaline Myopathy

Pediatric Neurology Briefs, 2003
A locus on chromosome 15q21-23 for a dominantly inherited nemaline myopathy with core-like lesions is reported in two unrelated families evaluated at University Medical Center, Nijmegen, The Netherlands.
J Gordon Millichap
doaj   +1 more source

Mechanistic Insights Into NFIX‐Mediated DNA Recognition and Transcriptional Regulation in Skeletal Muscle

Smart Medicine, Volume 5, Issue 1, February 2026.
An atomic view of the NFIX–DNA complex reveals recognition of the TGGCA motif and links sequence‐specific binding to the transcriptional programs governing skeletal muscle development and disease. ABSTRACT Skeletal muscle is essential for voluntary movement and exhibits a remarkable capacity for regeneration following injury.
Ci Zhu, Shuang Liu, Xi Chen, Chengxiao Qin, Yueyu Wang, Chunchun Xue, Lingxing Li, Wenlan Du, Xin Chen, Xiaofeng Li, Jie Shen, He Song   +11 more
wiley   +1 more source

Nemaline Myopathy: Clinical Study

Pediatric Neurology Briefs, 2001
Clinical and genetic characteristics, prognostic risk factors, and classification of nemaline myopathy (NM) are examined in a study of 143 cases identified at two centers in Australia and North America and reported from the Neurogenetics Research Unit ...
J Gordon Millichap
doaj   +1 more source

Rheumatic conditions in human immunodeficiency virus infection [PDF]

, 2017
Many rheumatic diseases have been observed in HIV-infected persons. We, therefore, conducted a comprehensive literature search in order to review the prevalence, presentation and pathogenesis of rheumatic manifestations in HIV-infected subjects ...
Daikeler, T., Tyndall, A., Walker, U. A.
core  

The Diverse Neuromuscular Spectrum of VPS13A Disease

Annals of Clinical and Translational Neurology, Volume 13, Issue 1, Page 157-169, January 2026.
ABSTRACT Objective VPS13A disease (chorea‐acanthocytosis) is a rare neurodegenerative disorder caused by biallelic variants in VPS13A, typically presenting with hyperkinetic movement disorders, while neuromuscular signs are often mild. The aim of the project was to investigate the frequency and severity of neuromuscular impairment in VPS13A disease ...
Anne Buchberger, Evamaria Riedel, Marie Hackenberg, Alexander Mensch, Stefanie Beck‐Woedl, Joohyun Park, Tobias B. Haack, Bernhard Haslinger, Jan Kirschke, Holger Prokisch, Andreas Hermann, Christian Mawrin, Adrian Danek, Benedikt Schoser, Kevin Peikert, Marcus Deschauer, Isabell Cordts   +16 more
wiley   +1 more source

Rare nemaline myopathy (a case report)

Гений oртопедии, 2022
Introduction Nemaline myopathies (NM) are a group of neuromuscular diseases, the distinctive histological feature of which are nemaline rods in myosymplasts.
Nikolai S. Migalkin, Galina N. Filimonova, Oksana G. Prudnikova, Igor N. Mezentsev   +3 more
doaj   +1 more source

68-year old man with progressive weakness and ventilator dependent respiratory failure: a case report of sporadic late onset nemaline myopathy

BMC Pulmonary Medicine, 2022
Background Neuromuscular pathologies must be considered when caring for patients with persistent or progressive respiratory failure. Pertinent disease states may involve skeletal muscles of respiration or associated neurologic structures including motor ...
Pradhab Kirupaharan, Daniel Kramer, Alan Gandler, Lawrence Kenyon, Ross Summer   +4 more
doaj   +1 more source

miRegulome: a knowledge-base of miRNA regulomics and analysis [PDF]

, 2015
miRNAs regulate post transcriptional gene expression by targeting multiple mRNAs and hence can modulate multiple signalling pathways, biological processes, and patho-physiologies.
Azevedo, Vasco, Barh, Debmalya, Barve, Neha, Bhattacharya, Antaripa, Blum, Kenneth, Ghosh, Preetam, Jain, Neha, Juneja, Lucky, Kamapantula, Bhanu, Kumar, Anil, Miyoshi, Anderson, Nalluri, Joseph, Silva, Artur, Tiwari, Sandeep   +13 more
core   +3 more sources

RNA‐Seq of Cultured Peripheral Blood Lymphocytes Improves Identification of Cryptic Splicing Defects in Rare Disease Diagnostics

Human Mutation, Volume 2026, Issue 1, 2026.
Accurate identification of the genetic determinants of rare diseases is essential for effective recurrence‐risk management and informed reproductive decision‐making. Although whole‐exome sequencing (WES) and whole‐genome sequencing (WGS) have significantly improved diagnostic capabilities, a subset of affected families still receives no definitive ...
Jinlin Ren, Congling Dai, Fei Meng, Pan Zhang, Chunbo Xie, Wenjuan Xiao, Wenbin He, Shimin Yuan, Xiurong Li, Qianjun Zhang, Weiling Tang, Liang Hu, Zixu Chen, Guangxiu Lu, Juan Du, Sicong Zeng, Ge Lin, Stuart Scott   +17 more
wiley   +1 more source