Results 91 to 100 of about 1,729 (232)

Mapping Evidence on Care Interventions for People Living With Motor Neurone Disease: A Protocol for a Living Evidence and Gap Map

Clinical and Public Health Guidelines, Volume 3, Issue 2, April 2026.
ABSTRACT Objective To map the available evidence informing the care and management of people living with motor neurone disease (MND), including evidence pertaining to carers, asymptomatic genetic carriers, family, friends and healthcare professionals caring for people with MND.
Danielle Pollock, Cindy Stern, Melissa Bond, Timothy Hugh Barker, Sabira Hasanoff, Grace Holland, Ines Semendric, Anna Fragkoudi, Nipun Shrestha, Sebastian Cole Facchin‐Young, Abigail Molly Day‐Sharman, Lemma Negesa Bulto, Lara Stollery, Sitasma Sharma, Camille Schubert, Lynne Giles, Jay Beasley‐Hall, Tracy Merlin, Julie Labra, Steve Vucic, Taryn Hunt, Zachary Munn   +21 more
wiley   +1 more source

Spinal Muscular Atrophy of Childhood [PDF]

, 2020
openaire   +1 more source

Variant Update on ASCC1 : Characterization of the First Homozygous Missense Variant Involved in Prenatal‐Onset Spinal Muscular Atrophy With Congenital Bone Fractures 2

American Journal of Medical Genetics Part A, Volume 200, Issue 3, Page 744-748, March 2026.
ABSTRACT Spinal muscular atrophy with congenital bone fractures 2 is a rare and severe autosomal recessive neuromuscular disorder caused by pathogenic variants in ASCC1. This condition characterized by prenatal onset of severe hypotonia with fetal hypokinesia and congenital contractures results in arthrogryposis multiplex congenita, and increased ...
A. Civit, L. Kerbellec, D. Laurenceau, D. C. Ung, M. P. Moizard, N. Ronce, P. Gueguen, F. Laumonnier, A. C. Bréhin, F. Marguet, A. Laquerrière, A. M. Bergemer Fouquet, J. Cirier, S. Blesson, S. Arpin, M. Jeanne, M. L. Vuillaume   +16 more
wiley   +1 more source

Bilateral Wrist Drop at Presentation in a Child with Spinal Muscular Atrophy Type I [PDF]

, 2014
N
Abdelrahim, Rana, Al-Futaisi, Amna, Al-Nabhani, Susan, Koul, Roshan   +3 more
core   +2 more sources

RNA‐Based Therapies for Inherited Metabolic Disorders

Journal of Inherited Metabolic Disease, Volume 49, Issue 2, March 2026.
ABSTRACT Inherited metabolic disorders (IMDs) are a diverse and complex group of genetic conditions resulting from deficiencies in enzymes, transporters, or cofactors. These deficiencies lead to metabolic dysfunction and severe clinical consequences. Despite significant progress in understanding their molecular basis, treatment options remain limited ...
Reddy Sreekanth Vootukuri, Sonam Gurung, Roopkatha Ghosh, Philippa B. Mills, Julien Baruteau, Haiyan Zhou   +5 more
wiley   +1 more source

Editorial: Diagnosis of childhood spinal muscular atrophy. [PDF]

BMJ, 1973
openaire   +2 more sources

High Concordance of Copy Number Variants Detected by Chromosomal Microarray and Exome Sequencing in Clinical Diagnostics

Clinical Genetics, Volume 109, Issue 3, Page 529-538, March 2026.
To assess the relevance of exome sequencing as a first‐tier diagnostic tool, three aspects were investigated: detection of copy number variants (CNVs) from exomes as compared to chromosomal microarray, clinically‐relevant CNVs across all sizes, and additional diagnostic utilities (uniparental disomy and triploidy).
Rivka Birnbaum, Maya Slovik, Shamir Zenvirt, Ilana Livyatan, Israel Altman, Shiri Gershon, Jonathan Rips, Hagit Daum, Chaggai Rosenbluh, Orly Elpeleg, Vardiella Meiner, Ayala Frumkin, Hagar Mor‐Shaked, Tamar Harel   +13 more
wiley   +1 more source

Microscopic and molecular aspects of skeletal muscle alterations in cerebral palsy

Developmental Medicine &Child Neurology, Volume 68, Issue 3, Page 343-357, March 2026.
Cerebral palsy, caused by non‐progressive brain injury, is frequently accompanied by skeletal muscle alterations. This review synthesizes current evidence from muscle biopsy studies, revealing cellular and molecular adaptations in muscle tissue. Abstract Cerebral palsy (CP), the most prevalent childhood‐onset motor disability, frequently entails ...
Sebastian Edman, Oscar Horwath, Eva Pontén, Sudarshan Dayanidhi, Ferdinand von Walden   +4 more
wiley   +1 more source

Letter: Diagnosis of childhood spinal muscular atrophy. [PDF]

BMJ, 1973
openaire   +2 more sources

Novel Biallelic PLEKHG5 Variant Associated With Intermediate Charcot‐Marie‐Tooth Disease: Case Report From South America

Journal of the Peripheral Nervous System, Volume 31, Issue 1, March 2026.
ABSTRACT Background and Aims Biallelic pathogenic variants in PLEKHG5 are associated with two distinct recessive phenotypes, including distal hereditary motor neuropathy AR type 4 and intermediate Charcot‐Marie‐Tooth disease type C (CMT). No South American cases have been previously reported.
Rafael Oliveira Vidon, Pedro José Tomaselli, Caroline Bittar‐Braune, Izabela Jardim Pitta, Glenda Corrêa Borges de Lacerda, Márcia Jardim   +5 more
wiley   +1 more source