ReviewBrain : a journal of neurology2014
Clinical and genetic diversity of SMN1-negative proximal spinal muscular atrophies.
Review in Brain : a journal of neurology, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 37 papers.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
37 citing papers in PubMed, 88 citations in OpenAlex.
- Article
- Arthrogryposis Multiplex Congenita: Comprehensive Review from a Neuromuscular Standpoint.Genes · 2026Review
- The Long Haul: Microtubule Motors as the Essential Supply Line for Neuronal Longevity.Journal of neurochemistry · 2026Review
- Exploring the phenotypic and genotypic spectrum of spinal muscular atrophy in Bangladeshi children.BMC neurology · 2026Article
- Cargo Recognition of Nesprin-2 by the Dynein Adapter Bicaudal D2 for a Nuclear Positioning Pathway That Is Important for Brain Development.Biochemistry · 2026Article
- Adult Survival in SMA Type 1: A 23-Year Journey With Home Ventilation and Multidisciplinary Support.Clinical case reports · 2026Article
- Evaluating Therapeutic Outcomes in Spinal Muscular Atrophy: An Indian Experience.Annals of Indian Academy of Neurology · 2025Article
- Unraveling the genetic mysteries of spinal muscular atrophy in Chinese families.Orphanet journal of rare diseases · 2025Article
- Article
- Phenotype Presentation and Molecular Diagnostic Yield in Non-5q Spinal Muscular Atrophy.Neurology. Genetics · 2023Article
- Spinal Muscular Atrophy with Progressive Myoclonic Epilepsy (SMA-PME): three new cases and review of the mutational spectrum.Italian journal of pediatrics · 2023Article
- Early Development of Spinal Deformities in Children Severely Affected with Spinal Muscular Atrophy after Gene Therapy with Onasemnogene Abeparvovec-Preliminary Results.Children (Basel, Switzerland) · 2023Article
- ClinicalHuman mutation · 2023Article
- Expanding the phenotypic variability of MORC2 gene mutations: From Charcot-Marie-Tooth disease to late-onset pure motor neuropathy.Human mutation · 2022Article
- Spinal muscular atrophy carrier frequency in Saudi Arabia.Molecular genetics & genomic medicine · 2022Article
- Combination Therapy with Nusinersen and Onasemnogene Abeparvovec-xioi in Spinal Muscular Atrophy Type I.Journal of clinical medicine · 2021Article
- Comprehensive Mutation Analysis and Report of 12 Novel Mutations in a Cohort of Patients with Spinal Muscular Atrophy in Iran.Journal of molecular neuroscience : MN · 2021Article
- Article
- A novelIntractable & rare diseases research · 2021Article
- LRSAM1 and the RING domain: Charcot-Marie-Tooth disease and beyond.Orphanet journal of rare diseases · 2021Review
Corrections and comments
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Authors and funding
3 authors at 3 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Hereditary spinal muscular atrophy is a motor neuron disorder characterized by muscle weakness and atrophy due to degeneration of the anterior horn cells of the spinal cord. Initially, the disease was considered purely as an autosomal recessive condition caused by loss-of-function SMN1 mutations on 5q13. Recent developments in next generation sequencing technologies, however, have unveiled a growing number of clinical conditions designated as non-5q forms of spinal muscular atrophy. At present, 16 different genes and one unresolved locus are associated with proximal non-5q forms, having high phenotypic variability and diverse inheritance patterns. This review provides an overview of the current knowledge regarding the phenotypes, causative genes, and disease mechanisms associated with proximal SMN1-negative spinal muscular atrophies. We describe the molecular and cellular functions enriched among causative genes, and discuss the challenges in the post-genomics era of spinal muscular atrophy research.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.