Results 111 to 120 of about 1,154 (251)

Impact of Home-Based Respiratory Physiotherapy in Nusinersen-Treated Patients with Spinal Muscular Atrophy. [PDF]

Adv Ther
Be'er M, Shperling L, Rochman M, Amirav I, Cahal M, Lavi R, Sadot E, Lior Y, Lavie M.   +8 more
europepmc   +1 more source

Vitamin‐Responsive Disorders: From Molecular Basis to Clinical Presentation and Therapy

Journal of Inherited Metabolic Disease, Volume 49, Issue 4, July 2026.
ABSTRACT Vitamin‐dependent cofactors are essential for numerous metabolic reactions, and defects affecting their uptake, conversion, utilisation, or regeneration constitute a heterogeneous group of inherited metabolic disorders (IMDs). Although dietary vitamin intake is sufficient to sustain coenzyme synthesis in healthy individuals, it is insufficient
Cécile Acquaviva, Yann Nadjar, Manuel Schiff, Christine Vianey‐Saban, Alain Fouilhoux, Jean‐François Benoist   +5 more
wiley   +1 more source

Assessing Internal States In Children With Neuromuscular Disorders Through An Oral Narrative Task. [PDF]

Clin Neuropsychiatry
Cristofani P, Ruffini C, Buchignani B, Astrea G, Noli B, Magozzi B, Pecini C, Battini R.   +7 more
europepmc   +1 more source

Factors Impacting Tracheostomy Decisions in Korean Individuals With Amyotrophic Lateral Sclerosis: A Cross‐Sectional Survey

Muscle &Nerve, Volume 74, Issue 1, Page 159-172, July 2026.
ABSTRACT Introduction/Aims Decisions regarding tracheostomy are often made under emergent circumstances, although they require complex considerations of patient preferences, quality of life, and prognosis. This study investigated decision‐making surrounding tracheostomy in Korean people with amyotrophic lateral sclerosis (pwALS) and factors influencing
Juhee Chae, Shin Hye Yoo, Sun Young Lee, Jong‐Su Kim, Jung‐Joon Sung, Seok‐Jin Choi   +5 more
wiley   +1 more source

Hirayama disease: an uncommon cause of motor neuron disease. [PDF]

Arq Neuropsiquiatr
Gonçalves TAP, Simão GN, Frezatti RSS, Filho FSDS, Tomaselli PJ.   +4 more
europepmc   +1 more source

A Retrospective Cohort Study of Nutrition Outcomes in Children With Spinal Muscular Atrophy Type 1 and 2 Treated With Disease Modifying Therapies

Muscle &Nerve, Volume 74, Issue 1, Page 198-206, July 2026.
ABSTRACT Introduction/Aims Few studies have investigated nutrition as a primary outcome of disease modifying therapy (DMT) in spinal muscular atrophy (SMA). This study aimed to describe nutrition outcomes of DMT in children with SMA 1 and 2. Methods Children ≤ 18 years old with SMA 1 or 2 treated with DMTs, and untreated children with SMA 1 were ...
Katie O'Brien, Kay Nguo, Eppie M. Yiu, Ian R. Woodcock, Natassja Billich, Zoe E. Davidson   +5 more
wiley   +1 more source

DYNC1H1 in Spinal Muscular Atrophy: Diagnostic Findings From Two Families and a Comprehensive Review of Its Role in Neuromuscular and Neurodevelopmental Disorders. [PDF]

Mol Genet Genomic Med
Namdari M, Ansari B, Basiri K, Azimi ES, Hosseinzadeh M, Bahreini A, Nouri N, Sedghi M, Fattahpur S, Amoli MM, Tajsharghi H.   +10 more
europepmc   +1 more source

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

BMJ, 1973
openaire   +2 more sources

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

Brain Pathology, Volume 36, Issue 4, July 2026.
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

Effects of physical therapy on motor ability in patients with spinal muscular atrophy III: a study protocol for a randomised controlled trial. [PDF]

BMJ Open
Zhang J, Wang B, He J, Zhu L, Dong X.
europepmc   +1 more source