Results 141 to 150 of about 840,189 (237)

Changes in Ventilatory Support Requirements of Spinal Muscular Atrophy (SMA) Patients Post Gene-Based Therapies. [PDF]

Children (Basel), 2022
Panagiotou P, Kanaka-Gantenbein C, Kaditis AG.   +2 more
europepmc   +1 more source

First National Expanded Genomic Newborn Screening Program in Qatar; A Pilot Study, Doha‐Heidelberg Collaboration

American Journal of Medical Genetics Part A, Volume 200, Issue 10, Page 2374-2380, October 2026.
Reem Alsulaiman, Sarah Okashah, Radja Messai Badji, Fatemeh Abbaszadeh, Yaser Alsarraj, Rehab Ali Abdulrahman, Noora Shahbeck, Thalib Moideen, Reema El Hassan, Fatima Al‐Hamaydeh, Einas Alkuwari, Said Ismail, Hilal Al‐ Rifai, Ghassan Abdoh, Christian P. Schaaf, Georg Hoffmann, Saad Al‐Kaabi, Wadha Al‐Muftah, Tawfeg Ben‐Omran   +18 more
wiley   +1 more source

The Illness Narratives of Children and Young People With Spinal Muscular Atrophy: A Scoping Review

Journal of Advanced Nursing, Volume 82, Issue 9, Page 8375-8390, September 2026.
ABSTRACT Aim(s) This review seeks to explore the illness narratives of children and young people focusing on their healthcare trajectories; the right to health; and the kind of stories told about them. Design This scoping review adopts a narrative approach to analyse how the illness experience of Spinal Muscular Atrophy is represented in the literature,
Marcela González‐Agüero, Constanza Quezada, Valentina Turén, Josefa Camelio, Martina De Filippi, Caroline Bradbury‐Jones, Julie Taylor   +6 more
wiley   +1 more source

Correction to: Systematic Literature Review to Assess Economic Evaluations in Spinal Muscular Atrophy (SMA). [PDF]

Pharmacoeconomics, 2022
Paracha N, Hudson P, Mitchell S, Sutherland CS.   +3 more
europepmc   +1 more source

Spinal muscular atrophy [PDF]

, 2015
Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disorder which affects α-motor neurons in anterior horns of spinal cord resulting in progressive muscle weakness.
Bohatá, Jana
core  

Late‐Onset Tay–Sachs Disease With SMALED‐Like Muscle MRI Pattern Despite a Distinct Clinical Phenotype

Journal of the Peripheral Nervous System, Volume 31, Issue 3, September 2026.
ABSTRACT Background Late‐onset Tay–Sachs disease (LOTS) is a rare lysosomal disorder that contrasts with the classical infantile form by presenting with milder and heterogeneous neurological manifestations, including lower motor neuron phenotypes.
Rodrigo Siqueira Soares Frezatti, Trajano Aguiar Pires Gonçalves, Manoella Guerra de Albuquerque Bueno, André Clériston José dos Santos, Lindsay A. Wilson, Natalia Dominik, Michael G. Hanna, Jasper Morrow, Alex M. Rossor, Mary M. Reilly, Pedro José Tomaselli, Wilson Marques Junior   +11 more
wiley   +1 more source

VRK1‐Related Motor Neuropathy With Upper Motor Neuron Signs and Selective Muscle Involvement

Journal of the Peripheral Nervous System, Volume 31, Issue 3, September 2026.
ABSTRACT Introduction Hereditary motor neuropathies (HMN) represent a heterogeneous group of disorders with wide clinical and genetic variability. Despite advances in molecular diagnostics, approximately 50% of cases remain genetically unresolved, particularly those where distinguishing length‐dependent motor neuropathy from motor neuron disorder with ...
Manoella Guerra de Albuquerque Bueno, Diogo Fernandes dos Santos, Alexander M. Rossor, Matilde Laura, Alejandro Horga, Rodrigo Siqueira Soares Frezatti, Eduardo Vaz de Sousa Ferreira, Julian C. Blake, Jasper M. Morrow, Mary M. Reilly, Wilson Marques Júnior, Pedro José Tomaselli   +11 more
wiley   +1 more source

Systematic Literature Review to Assess Economic Evaluations in Spinal Muscular Atrophy (SMA). [PDF]

Pharmacoeconomics, 2022
Paracha N, Hudson P, Mitchell S, Sutherland CS.   +3 more
europepmc   +1 more source

The effects of fluphenazine on the neuromuscular phenotype in a mouse model of spinal muscular atrophy [PDF]

Spinal muscular atrophy (SMA) is a degenerative neuromuscular disorder caused by a mutation in the survival motor neuron 1 gene (SMN1), which renders the gene dysfunctional. SMN protein is vital for the survival of motor neurons.
Haynes, Katie Louise
core  

Biallelic SCO2 Variants Presenting as Motor‐Predominant Axonal Neuropathy With Complex IV Deficiency

Journal of the Peripheral Nervous System, Volume 31, Issue 3, September 2026.
ABSTRACT Background and Aims SCO2 encodes a mitochondrial copper chaperone required for cytochrome c oxidase (COX) assembly and is classically associated with severe multisystem mitochondrial disease. We characterize a motor‐predominant axonal neuropathy presentation associated with biallelic SCO2 variants.
Adriana P. Rebelo, Katie Lutz, Tiffany Grider, Craig M. Zaidman, Michael E. Shy, Stephan Zuchner   +5 more
wiley   +1 more source