Spinal Muscular Atrophy Type 2 Latest Advances

Find the Latest Research About Spinal Muscular Atrophy Type 2

Last Updated: 09/26/2026

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Found 3458 publications

Delayed diagnosis and genetic testing in spinal muscular atrophy: a case series.

Delayed diagnosis and genetic testing in spinal muscular atrophy: a case series.

Journal: Annals of medicine

Published: September 06, 2026

A Case Report of a Pedigree with Distal Hereditary Motor Neuropathy Caused by a Homozygous c.1124G>A Variant an the /*9Vaccinia-Related Kinase 1 Gene.

A Case Report of a Pedigree with Distal Hereditary Motor Neuropathy Caused by a Homozygous c.1124G>A Variant an the /*9Vaccinia-Related Kinase 1 Gene.

Journal: Journal of visualized experiments : JoVE

Published: August 18, 2026

Nusinersen for type-III spinal muscular atrophy: a 12-month retrospective study in a Brazilian cohort.

Nusinersen for type-III spinal muscular atrophy: a 12-month retrospective study in a Brazilian cohort.

Journal: Arquivos de neuro-psiquiatria

Published: July 17, 2026

Managing nusinersen therapy during pregnancy in spinal muscular atrophy type 3.

Managing nusinersen therapy during pregnancy in spinal muscular atrophy type 3.

Journal: BMJ case reports

Published: July 15, 2026

From Survival to Participation: Early Powered Mobility in the New Era of Spinal Muscular Atrophy Type I.

From Survival to Participation: Early Powered Mobility in the New Era of Spinal Muscular Atrophy Type I.

Journal: Journal of clinical medicine

Published: June 27, 2026

The weight of genotype on the clinical presentation of COQ7-related hereditary motor axonal neuropathy: a case series and literature review.

The weight of genotype on the clinical presentation of COQ7-related hereditary motor axonal neuropathy: a case series and literature review.

Journal: Arquivos de neuro-psiquiatria

Published: June 25, 2026

Response to Letter to the Editor Regarding "Safety and Efficacy of Magnetically Controlled Growing Rods for Early-Onset Scoliosis in the Era of Disease-Modifying Therapies: Mid-Term Results in a Homogeneous Cohort of Spinal Muscular Atrophy Type I Patients".

Response to Letter to the Editor Regarding "Safety and Efficacy of Magnetically Controlled Growing Rods for Early-Onset Scoliosis in the Era of Disease-Modifying Therapies: Mid-Term Results in a Homogeneous Cohort of Spinal Muscular Atrophy Type I Patients".

Journal: Journal of the Pediatric Orthopaedic Society of North America

Published: June 23, 2026

Autonomic Nervous System Phenotyping Across Chronic Demyelinating Peripheral Neuropathies: A Comparative Study.

Autonomic Nervous System Phenotyping Across Chronic Demyelinating Peripheral Neuropathies: A Comparative Study.

Journal: Journal of the peripheral nervous system : JPNS

Published: May 25, 2026

"Painless palsy" revisited: a systematic review of pain in hereditary neuropathy with liability to pressure palsies.

"Painless palsy" revisited: a systematic review of pain in hereditary neuropathy with liability to pressure palsies.

Journal: Pain management

Published: May 21, 2026

PMP22 gene diagnostic testing in Southwest Finland in 2005-2020. An observational, register-based study.

PMP22 gene diagnostic testing in Southwest Finland in 2005-2020. An observational, register-based study.

Journal: Neurogenetics

Published: May 20, 2026

Genetic susceptibility to thrombotic microangiopathy in a 10-month-old patient with SMA type 1: a caveat for gene therapy eligibility.

Genetic susceptibility to thrombotic microangiopathy in a 10-month-old patient with SMA type 1: a caveat for gene therapy eligibility.

Journal: Neuromuscular disorders : NMD

Published: May 09, 2026

Lung Function and Respiratory Muscle Strength in Symptomatic Children and Adults With Spinal Muscular Atrophy Treated With Nusinersen.

Lung Function and Respiratory Muscle Strength in Symptomatic Children and Adults With Spinal Muscular Atrophy Treated With Nusinersen.

Journal: Neurology

Published: May 07, 2026

Showing 1-12 of 3,458

Last Updated: 09/26/2026