Results 301 to 310 of about 121,613 (384)

Course of joint range of motion in children with spinal muscular atrophy receiving disease-modifying treatment. [PDF]

Orphanet J Rare Dis
Oude Lansink ILB, Gorter JW, van der Pol WL, Vd Woude DR, Scheiberlich PJ, van Eijk RPA, Bartels B, Beelen A.   +7 more
europepmc   +1 more source

Electrical Stimulation of Denervated Muscle: A Narrative Review

Artificial Organs, EarlyView.
This review explores existing strategies for stimulating denervated muscle following lower motor neuron injury, including direct electrical stimulation of the muscle and artificial reinnervation to enable more comfortable and efficient indirect functional muscle stimulation.
Linshan Chu, Jonathan C. Jarvis, Brian J. Andrews, James J. FitzGerald   +3 more
wiley   +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

Caring for children with spinal muscular atrophy in Greece: parents' and caregivers' experience with the healthcare system. [PDF]

Front Health Serv
Souliotis K, Golna C, Tzavara C, Vasileiadi C, Golnas P, Ntokou A, Binou K, Karras A.   +7 more
europepmc   +1 more source

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

Clinical Genetics, EarlyView.
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

Novel Translational Concept: Axon-to-Muscle Exosomal Signaling as an Emerging Therapeutic Target in Spinal Muscular Atrophy. [PDF]

Biomedicines
Fajkić A, Belančić A, Lam YW, Rački V, Pilipović K, Janković T, Mežnarić S, Mršić-Pelčić J, Vitezić D.   +8 more
europepmc   +1 more source

Mitochondrial DNA Depletion Syndrome 1 (MTDPS1)—A Novel Cause of Premature Ovarian Insufficiency

Clinical Genetics, EarlyView.
We describe a woman with MNGIE due to a novel homozygous TYMP nonsense variant and propose MNGIE as the cause of her premature ovarian insufficiency—a rarely reported association—highlighting the need to consider mitochondrial disease in unexplained POI, especially in atypical, consanguineous presentations. ABSTRACT Mitochondrial DNA depletion syndrome
Michael Matheou, Helen Turner, Deborah Shears, Fredrik Karpe   +3 more
wiley   +1 more source

Swallowing and feeding after disease-modifying treatment for spinal muscular atrophy: a systematic review of assessment modalities and outcomes. [PDF]

Orphanet J Rare Dis
Martí Y, Gorni K, Kumari S, Mahajan A, Baranello G, Waele L, McGrattan KE.   +6 more
europepmc   +1 more source

Expanding the Genotype and Phenotype Diversity in a Chinese Cohort With TRPV4‐Related Dysplasia

Clinical Genetics, EarlyView.
Exploring the genotype and phenotype diversity in a Chinese cohort with TRPV4‐related dysplasia. ABSTRACT Dominant mutations in the calcium permeable ion channel TRPV4 (transient receptor potential vanilloid 4) typically result in skeletal dysplasia or peripheral neuromuscular disease.
Lina Dong, Kwan Chun Ho, Zhijia Tan, Yanni He, Yapeng Zhou, Shijie Yin, Lin Feng, Janus Siu Him Wong, Michael Kai Tsun To   +8 more
wiley   +1 more source

Managing Spinal Muscular Atrophy: A Look at the Biology and Treatment Strategies. [PDF]

Biology (Basel)
Vezzoli A, Bottai D, Adami R.
europepmc   +1 more source