Results 151 to 160 of about 1,154 (251)

Utility of Far‐Field Potentials as a Biomarker of Neurodegeneration in Spinal Muscular Atrophy

Muscle &Nerve, Volume 73, Issue 6, Page 1089-1095, June 2026.
ABSTRACT Introduction/Aims Far field potentials (FFP) have been proposed as a reliable neurophysiological prognostic biomarker in amyotrophic lateral sclerosis (ALS). This study evaluated the utility of ulnar nerve FFP as a robust research biomarker of lower motor neuron degeneration in spinal muscular atrophy (SMA).
Aicee Dawn Calma, Nathan Pavey, Cláudia Santos Silva, Yukiko Tsuji, Amirul Ab Ghapar, Katrina Morris, Matthew C. Kiernan, Michelle A. Farrar, Parvathi Menon, Steve Vucic   +9 more
wiley   +1 more source

Anesthetic management of a patient with spinal muscular atrophy type II for scoliosis surgery: a case report. [PDF]

BMC Anesthesiol
Chen Z, Chen X, Liang X, Niu Q, Chan Y, Xu X.   +5 more
europepmc   +1 more source

P1.59 Pre-diagnostic parent experiences in Duchenne and Becker muscular dystrophies, congenital muscular dystrophies, and spinal muscular atrophies: A survey of the national task force for the early identification of childhood neuromuscular disorders

, 2011
H.L. Peay, K. Mathews
core   +1 more source

Neurodevelopmental and mental disorders in children with type I and presymptomatic spinal muscular atrophy. [PDF]

Sci Rep
Buchignani B, Coratti G, Cutrì C, Scattoni ML, Pane M, Palermo C, Leone D, De Sanctis R, Stanca G, Antonaci L, Cutrona C, Pera MC, Brogna C, Cristofani P, Fulceri F, Baranello G, Mercuri E.   +16 more
europepmc   +1 more source

Dystrophinopathy with a DMD exon 49–50 deletion in a female patient who developed schizophrenia: An autopsy case

Psychiatry and Clinical Neurosciences Reports, Volume 5, Issue 2, June 2026.
Abstract Background Mutations in DMD affect not only muscles but also the brain. Cases of schizophrenia with DMD mutations have been described previously. Although female dystrophinopathy often has a milder phenotype, some affected females also have intellectual disabilities and psychiatric disorders.
Shusei Arafuka, Youta Torii, Ayako Miwa, Itaru Kushima, Hirotaka Sekiguchi, Hiroshige Fujishiro, Chikako Habuchi, Hiroaki Miyahara, Yosuke Kawai, Ran Wei, Katsushi Tokunaga, Norio Ozaki, Mari Yoshida, Shuji Iritani, Yasushi Iwasaki, Masashi Ikeda   +15 more
wiley   +1 more source

Genotype-phenotype correlations in 18 European patients with heterozygous <i>KIF1A</i> variants: key considerations for assessing <i>KIF1A</i> variant causality. [PDF]

Front Med (Lausanne)
Uhrova Meszarosova A, Galiart E, Lassuthova P, Kolokotronis K, Seidl B, Musilova A, Peckova A, Takacsova A, Vyhnalkova E, Grecmalova D, Vlckova E, Skutilova V, Steindl K, Rauch A, Stettner GM, Safka Brozkova D.   +15 more
europepmc   +1 more source

Pediatric spinal ependymomas: Long‐term surgical outcomes in a cohort of 61 cases

Pediatric Investigation, Volume 10, Issue 3, Page 240-248, June 2026.
Spinal ependymomas are rare in children, with limited long‐term outcome data. In this retrospective study of 61 pediatric patients undergoing surgical resection, gross total resection was achieved in 62.3% and was associated with favorable functional improvement. Recurrence was observed in 31.1% of cases.
Liang Zhang, Xingyu Liu, Bo Han, Wenqing Jia   +3 more
wiley   +1 more source

Risdiplam treatment following onasemnogene abeparvovec in individuals with spinal muscular atrophy: a multicenter case series. [PDF]

BMC Neurol
Svoboda MD, Kuntz N, Leon-Astudillo C, Byrne BJ, Krueger J, Kwon JM, Sieburg C, Castro D.   +7 more
europepmc   +1 more source

Structural Lung Disease in Children and Adolescents With Severe Neurological Disorders

Pediatric Pulmonology, Volume 61, Issue 6, June 2026.
ABSTRACT Background and Objective Children with severe neurological disorders are at risk of secondary respiratory morbidity due to impaired airway clearance and dysphagia, but systematic data on structural lung changes remain scarce. Methods We retrospectively analyzed all clinically indicated chest CT examinations at a tertiary care center (2015–2025)
Daniel A. F. Bernard, Cathrin Dahl, Luca Salhöfer, Anna Pauly, Mathis Steindor, Margarete Olivier, Ulrike Schara‐Schmidt, Matthias Welsner, Bernd Schweiger, Sebastian Zensen, Marcel A. Drews, Johannes Haubold, Michael Forsting, Lale Umutlu, Marcel Opitz, Florian Stehling   +15 more
wiley   +1 more source

Postural Tremor Caused by Hirayama Disease Mimicking Essential Tremor. [PDF]

Tremor Other Hyperkinet Mov (N Y)
Xie N, Sun Q, Yang G.
europepmc   +1 more source