Results 71 to 80 of about 35,591 (238)

With Regard to the Expression Status of Sarcolemmal Aquaporin 4 in Human Muscular Dystrophies

Neurology and Clinical Neuroscience, EarlyView.
ABSTRACT Human muscular dystrophies are inherited muscle‐wasting diseases caused by the various kinds of gene mutations. Among them, Duchenne muscular dystrophy (DMD) is a representative type. Before the discovery of the causative dystrophin gene of DMD, the fragile myofiber plasma membrane was thought to be the trigger of myofiber necrosis in DMD ...
Yoshihiro Wakayama, Takahiro Jimi
wiley   +1 more source

Monogenic and syndromic obesity in children: Clinical recognition, genetics, and precision management

Pediatric Investigation, EarlyView.
Monogenic and syndromic obesity in children often arises from defects in the leptin–melanocortin pathway. Understanding these rare genetic causes not only clarifies mechanisms of appetite regulation but also enables precision therapies, offering hope beyond lifestyle interventions.
Hadel Khalil, Eugene Feigin, Hussein Zaitoon   +2 more
wiley   +1 more source

A case of Bethlem Myopathy with autosomal recessive inheritance with a novel mutation in the COL6A2 gene

Journal of Biochemical and Clinical Genetics, 2018
Background: Mutations in the collagen VI genes (COL6A1, COL6A2, and COL6A3) cause Ullrich congenital muscular dystrophy (UCMD) (UCMD; Mendelian Inheritance in Man [MIM] 254090), Bethlem myopathy (BM) (BM; MIM 158810) and phenotypes between BM and UCMD ...
Muhsin Elmas, Basak Gogus
doaj   +1 more source

The Swedish National Pediatric Cataract Register (PECARE): Coexisting systemic disorders 2007–2023

Acta Ophthalmologica, EarlyView.
Abstract Purpose To analyse the frequency and type of coexisting systemic disorders in children operated on for cataract in Sweden. Methods Data were retrieved from the Swedish National Pediatric Cataract Register (PECARE) for children operated between January 1, 2007, and December 31, 2023 (n = 975), including follow‐ups at age 1, 2, 5 and 10 ...
David Wackerberg, Jenny Gyllén, Birgitte Haargaard, Alf Nyström, Arzu Karatepe Hashas, Anna Linnarsson Wiklund, Eric Trocmé, Ulrika Kjellström, Kristina Tornqvist, Gunilla Magnusson   +9 more
wiley   +1 more source

Functional impairment in patients with myotonic dystrophy type 1 can be assessed by an ataxia rating scale (SARA) [PDF]

, 2017
Myotonic dystrophy type 1 (DM1) is not characterised by ataxia per se; however, DM1 and ataxia patients show similar disturbances in movement coordination often experiencing walking and balance difficulties, although caused by different underlying ...
Atalaia, Antonio, DiPaolo, Giovanni, Guglieri, Michela, Jimenez-Moreno, Cecilia, Lochmüller, Hanns, Monckton, Darren G., Nikolenko, Nikoletta   +6 more
core   +2 more sources

Supporting Children With a Chronic Disease and Their Parents When Admitted to Hospital: A Scoping Review of Psychosocial Supports

Acta Paediatrica, EarlyView.
Importance of psychosocial support. ABSTRACT Aim The aim of this scoping review was to identify, examine, and summarize available evidence regarding psychosocial supports provided to children with a chronic disease when admitted to hospital and their parents. Method The JBI methodology for conducting and reporting scoping reviews was followed.
Lyndsay Jerusha MacKay, Nolan Lagrisolal, Una Chang, Matthew Christoffersen, K. Alix Hayden, Kathryn Birnie, Tammie Dewan   +6 more
wiley   +1 more source

Brain MRI Findings in Congenital Muscular Dystrophy

Pediatric Neurology Briefs, 2006
Brain magnetic resonance imaging (MRI) findings in 13 patients with congenital muscular dystrophy (MDCIC) and Fukutin-related protein (FKRP) gene mutations were retrospectively reviewed in a study at Hammersmith Hospital, London, UK, and European centers.
J Gordon Millichap
doaj   +1 more source

Mental wellbeing in non-ambulant youth with neuromuscular disorders: What makes the difference? [PDF]

, 2018
The physical and social challenges associated with neuromuscular disorders may impact mental wellbeing in non-ambulant youth during the more vulnerable period of adolescence.
Downs, Jenny, Hince, Dana, Patman, Shane, Travlos, Vivienne, Wilson, Andrew   +4 more
core   +1 more source

A muscular dystrophy associated with bi‐allelic LEMD2 variants: Expanding the genotype of nuclear envelopathies

Brain Pathology, EarlyView.
Proteomics‐guided exome re‐analysis identifies bi‐allelic variants in the nuclear envelope LEMD2 gene, expanding its phenotypic spectrum. Created in BioRender. Pauper, M. (2026) https://BioRender.com/xamvo92.
Marc Pauper, Heike Kölbel, Iakowos Karakesisoglou, Anne Schänzer, Johann Böhm, Rachel Thompson, Nicolai Kohlschmidt, Bernd Ringel, Gisèle Bonne, Katja Neuhoff, Andrea Gangfuß, Ozge Aksel Kilicarslan, Sergi Beltran Agullo, Andreas Hentschel, Ulrike Schara‐Schmidt, Hanns Lochmüller, Kiran Polavarapu, Andreas Roos   +17 more
wiley   +1 more source

CONGENITAL MUSCULAR DYSTROPHIES [PDF]

Neuromuscular Disorders, 2020
D. Natera-de Benito, I. Zaharieva, V. Pini, A. Manzur, P. Munot, S. Parker DiTroia, S. Di Gioia, J. Jurgens, B. Barry, E. England, D. Ledoux, A. O´Donell-Luria, D. MacArthur, L. Feng, R. Phadke, A. Sarkozy, E. Engle, F. Muntoni   +17 more
  +6 more sources