Results 181 to 190 of about 2,481 (285)

Reduced white matter integrity and disrupted brain network in children with type 2 and 3 spinal muscular atrophy. [PDF]

J Neurodev Disord
Nie H, Lan S, Wang H, Xiang P, Yan M, Fan Y, Shen W, Li Y, Tang W, Yang Z, Liang Y, Chen Y.   +11 more
europepmc   +1 more source

Quality of Life of People With Neuromuscular Diseases: The Role of Stigma

Muscle &Nerve, Volume 72, Issue 2, Page 274-285, August 2025.
ABSTRACT Introduction/Aims Stigma is thought to have a profound impact on quality of life (QoL) among people with neuromuscular diseases (NMD), but empirical evidence is limited. This study sought to explore associations of enacted stigma (social exclusion) and felt stigma (shame, fear of exclusion) with QoL.
Marion Sommers‐Spijkerman, Esther Kruitwagen‐van Reenen, Willeke Kruithof, Johanna M. A. Visser‐Meily, Eline Scholten, Anita Beelen   +5 more
wiley   +1 more source

A self-reported Brazilian registry of 5q-spinal muscular atrophy: data on natural history, genetic characteristics, and multidisciplinary care. [PDF]

Arq Neuropsiquiatr
Mendonça RH, Godoi JSA, Zanoteli E.
europepmc   +1 more source

Incidental Identification of Potentially Affected Individuals Through Expanded Carrier Screening During Preconception or Early Pregnancy

Prenatal Diagnosis, Volume 45, Issue 9, Page 1151-1159, August 2025.
ABSTRACT Objective Expanded carrier screening (ECS) is used to assess the reproductive probability of having an offspring affected by an autosomal recessive or X‐linked recessive genetic disorder. Rarely, a presumably healthy individual may be identified to carry variants that could influence their health.
Yan Lü, Jiazhen Chang, Yulin Jiang, Xiya Zhou, Na Hao, Yiqing Yu, Mengmeng Li, Kaili Yin, Xueting Yang, Qingwei Qi   +9 more
wiley   +1 more source

The long-term efficacy of nusinersen on respiratory functions in children with symptomatic spinal muscular atrophy type 1. [PDF]

Turk J Med Sci
Kiliç MA, Kürekçi F, Kipoğlu O, Coşkun O, Karacebey BN, Katar S, Avci R, Genç HM, Çakir E, Yildiz EP.   +9 more
europepmc   +1 more source

The Life of a Kidney Podocyte

Acta Physiologica, Volume 241, Issue 8, August 2025.
ABSTRACT Aim Podocytes, highly specialized epithelial cells located in the glomerulus of the kidney, are essential to the filtration barrier that ensures separation of blood and urine. These cells exhibit a unique architecture, characterized by an intricate network of foot processes interconnected by slit diaphragms, which serve as a critical selective
Desiree Loreth, Wiebke Sachs, Catherine Meyer‐Schwesinger   +2 more
wiley   +1 more source

Successful pregnancy of an SMA type 3 sitter on Nusinersen therapy - a case report. [PDF]

BMC Neurol
Hiebeler M, Thiele S, Walter MC.
europepmc   +1 more source

Diversity of U1 Small Nuclear RNAs and Diagnostic Methods for Their Mutations

Cancer Science, Volume 116, Issue 8, Page 2270-2280, August 2025.
Complex interindividual U1 snRNA diversity was unveiled. Mutations in such complex loci were precisely detected with a pangenome graph reference, which enhances the possibility of the human pangenome reference in cancer genomics. ABSTRACT U1 small nuclear RNA (snRNA) mutations are recurrent non‐coding alterations found in various malignancies, yet ...
Takuma Nakashima, Tsubasa Miyauchi, Ryota Takeuchi, Yuriko Sugihara, Yusuke Funakoshi, Fumiharu Ohka, Sachi Maeda, Junko Hirato, Takako Yoshioka, Hajime Okita, Yoshitaka Narita, Yonehiro Kanemura, Yasuhiro Kojima, Yuko Watanabe, Ryuta Saito, Hiromichi Suzuki   +15 more
wiley   +1 more source

Brazilian Portuguese version of the revised upper-limb module: cross-cultural adaptation and validation. [PDF]

Arq Neuropsiquiatr
Artilheiro MC, Iannicelli JR, Polido GJ, Fernandes TR, Almeida LA, Mendonça RH, Camelo CG, Moreno CAM, Zanoteli E.   +8 more
europepmc   +1 more source

A Novel LAMA2 Mutation (c.7412G>A) Was Found in a Chinese Patient With Congenital Muscular Dystrophy

Journal of Cellular and Molecular Medicine, Volume 29, Issue 15, August 2025.
ABSTRACT Congenital muscular dystrophy (CMD) is a genetic muscle disorder characterised by muscle weakness and degeneration, either present at birth or emerging in middle age, often leading to progressive disability. MDC1A is a subtype of CMD caused by mutations in the LAMA2 gene.
Meifang Zhao, Yuxing Liu, Liangliang Fan, Zhaochuan Liu, Yao Deng, Lihong Tao   +5 more
wiley   +1 more source