# Neurogenetic and Muscular Disorders Research
**Type:** Topics
**Canonical URL:** https://scholariq.org/topics/neurogenetic-and-muscular-disorders-research/
## Facts
| Field | Value |
| --- | --- |
| Description | This cluster of papers focuses on the gene therapy, molecular genetics, and clinical management of Spinal Muscular Atrophy (SMA). It covers topics such as SMN1 and SMN2 genes, Nusinersen treatment, antisense oligonucleotide therapies, motor neuron pathology, and the role of survival motor neuron protein in SMA. The cluster also discusses potential therapeutic strategies, including gene replacement therapy and the use of small molecules to modulate SMN expression. |
| Domain | Health Sciences |
| Field | Medicine |
| OpenAlex ID | t12400 |
| Works | 299 |
## Topic papers all
Showing 15 of 299.
- [Expanded GGGGCC Hexanucleotide Repeat in Noncoding Region of C9ORF72 Causes Chromosome 9p-Linked FTD and ALS](https://scholariq.org/papers/expanded-ggggcc-hexanucleotide-repeat-in-noncoding-region-of-c9orf72-causes/)
- [A Hexanucleotide Repeat Expansion in C9ORF72 Is the Cause of Chromosome 9p21-Linked ALS-FTD](https://scholariq.org/papers/a-hexanucleotide-repeat-expansion-in-c9orf72-is-the-cause-of-chromosome-9p21/)
- [Mutations in the FUS/TLS Gene on Chromosome 16 Cause Familial Amyotrophic Lateral Sclerosis](https://scholariq.org/papers/mutations-in-the-i-fus-tls-i-gene-on-chromosome-16-cause-familial-amyotrophic/)
- [Amyotrophic lateral sclerosis](https://scholariq.org/papers/amyotrophic-lateral-sclerosis/)
- [Nusinersen versus Sham Control in Infantile-Onset Spinal Muscular Atrophy](https://scholariq.org/papers/nusinersen-versus-sham-control-in-infantile-onset-spinal-muscular-atrophy/)
- [A double‐blind controlled trial of bilateral fetal nigral transplantation in Parkinson's disease](https://scholariq.org/papers/a-double-blind-controlled-trial-of-bilateral-fetal-nigral-transplantation-in/)
- [State of play in amyotrophic lateral sclerosis genetics](https://scholariq.org/papers/state-of-play-in-amyotrophic-lateral-sclerosis-genetics/)
- [TARDBP mutations in individuals with sporadic and familial amyotrophic lateral sclerosis](https://scholariq.org/papers/tardbp-mutations-in-individuals-with-sporadic-and-familial-amyotrophic-lateral/)
- [Targeted Disruption of Mouse EGF receptor: Effect of Genetic Background on Mutant Phenotype](https://scholariq.org/papers/targeted-disruption-of-mouse-egf-receptor-effect-of-genetic-background-on-mutant/)
- [Nusinersen versus Sham Control in Later-Onset Spinal Muscular Atrophy](https://scholariq.org/papers/nusinersen-versus-sham-control-in-later-onset-spinal-muscular-atrophy/)
- [Amyotrophic lateral sclerosis](https://scholariq.org/papers/amyotrophic-lateral-sclerosis-3/)
- [Amyotrophic lateral sclerosis](https://scholariq.org/papers/amyotrophic-lateral-sclerosis-2/)
- [Frequency of the C9orf72 hexanucleotide repeat expansion in patients with amyotrophic lateral sclerosis and frontotemporal dementia: a cross-sectional study](https://scholariq.org/papers/frequency-of-the-c9orf72-hexanucleotide-repeat-expansion-in-patients-with/)
- [Diagnosis and management of spinal muscular atrophy: Part 1: Recommendations for diagnosis, rehabilitation, orthopedic and nutritional care](https://scholariq.org/papers/diagnosis-and-management-of-spinal-muscular-atrophy-part-1-recommendations-for/)
- [Riluzole for amyotrophic lateral sclerosis (ALS)/motor neuron disease (MND)](https://scholariq.org/papers/riluzole-for-amyotrophic-lateral-sclerosis-als-motor-neuron-disease-mnd/)
## Topic primary papers
Showing 15 of 54.
- [Nusinersen versus Sham Control in Infantile-Onset Spinal Muscular Atrophy](https://scholariq.org/papers/nusinersen-versus-sham-control-in-infantile-onset-spinal-muscular-atrophy/)
- [Nusinersen versus Sham Control in Later-Onset Spinal Muscular Atrophy](https://scholariq.org/papers/nusinersen-versus-sham-control-in-later-onset-spinal-muscular-atrophy/)
- [Diagnosis and management of spinal muscular atrophy: Part 1: Recommendations for diagnosis, rehabilitation, orthopedic and nutritional care](https://scholariq.org/papers/diagnosis-and-management-of-spinal-muscular-atrophy-part-1-recommendations-for/)
- [Prevalence, incidence and carrier frequency of 5q–linked spinal muscular atrophy – a literature review](https://scholariq.org/papers/prevalence-incidence-and-carrier-frequency-of-5q-linked-spinal-muscular-atrophy/)
- [Diagnosis and management of spinal muscular atrophy: Part 2: Pulmonary and acute care; medications, supplements and immunizations; other organ systems; and ethics](https://scholariq.org/papers/diagnosis-and-management-of-spinal-muscular-atrophy-part-2-pulmonary-and-acute/)
- [Nusinersen initiated in infants during the presymptomatic stage of spinal muscular atrophy: Interim efficacy and safety results from the Phase 2 NURTURE study](https://scholariq.org/papers/nusinersen-initiated-in-infants-during-the-presymptomatic-stage-of-spinal/)
- [SMN2 splicing modifiers improve motor function and longevity in mice with spinal muscular atrophy](https://scholariq.org/papers/i-smn2-i-splicing-modifiers-improve-motor-function-and-longevity-in-mice-with/)
- [Mildly affected patients with spinal muscular atrophy are partially protected by an increased SMN2 copy number](https://scholariq.org/papers/mildly-affected-patients-with-spinal-muscular-atrophy-are-partially-protected-by/)
- [Nusinersen in adults with 5q spinal muscular atrophy: a non-interventional, multicentre, observational cohort study](https://scholariq.org/papers/nusinersen-in-adults-with-5q-spinal-muscular-atrophy-a-non-interventional/)
- [Onasemnogene abeparvovec for presymptomatic infants with two copies of SMN2 at risk for spinal muscular atrophy type 1: the Phase III SPR1NT trial](https://scholariq.org/papers/onasemnogene-abeparvovec-for-presymptomatic-infants-with-two-copies-of-smn2-at/)
- [Hepatotoxicity following administration of onasemnogene abeparvovec (AVXS-101) for the treatment of spinal muscular atrophy](https://scholariq.org/papers/hepatotoxicity-following-administration-of-onasemnogene-abeparvovec-avxs-101-for/)
- [Onasemnogene abeparvovec for presymptomatic infants with three copies of SMN2 at risk for spinal muscular atrophy: the Phase III SPR1NT trial](https://scholariq.org/papers/onasemnogene-abeparvovec-for-presymptomatic-infants-with-three-copies-of-smn2-at/)
- [Neuroprotective Effects of Glial Cell Line-Derived Neurotrophic Factor Mediated by an Adeno-Associated Virus Vector in a Transgenic Animal Model of Amyotrophic Lateral Sclerosis](https://scholariq.org/papers/neuroprotective-effects-of-glial-cell-line-derived-neurotrophic-factor-mediated/)
- [Nusinersen in later-onset spinal muscular atrophy](https://scholariq.org/papers/nusinersen-in-later-onset-spinal-muscular-atrophy/)
- [FUS-SMN Protein Interactions Link the Motor Neuron Diseases ALS and SMA](https://scholariq.org/papers/fus-smn-protein-interactions-link-the-motor-neuron-diseases-als-and-sma/)
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Source: ScholarIQ — public research metadata, principally OpenAlex. See https://scholariq.org/sources/ for provenance and https://scholariq.org/methodology/ for what these figures mean.