Disease: Juvenile primary lateral sclerosis
- A 23-year follow-up report of juvenile-onset Sandhoff disease presenting with a motor neuron disease phenotype and a novel variant
- A Case of Hirayama Disease Presenting Horn Hand: Spinal Horn Hand
- A case of juvenile-onset amyotrophic lateral sclerosis with a <em>de novo</em> frameshift <em>FUS</em> gene mutation presenting with bilateral abducens palsy
- A case of proximal-type Hirayama disease associated with neck axial rotation
- A de novo c.113 T > C: p.L38R mutation of <em>SPTLC1</em>: case report of a girl with sporadic juvenile amyotrophic lateral sclerosis
- A novel compound heterozygous mutation in GALC associated with adult-onset Krabbe disease: case report and literature review
- A novel mutation in the ALS2 gene in an iranian kurdish family with juvenile amyotrophic lateral sclerosis
- A novel zebrafish model for intermediate type spinal muscular atrophy demonstrates importance of Smn for maintenance of mature motor neurons
- A rare case of juvenile amyotrophic lateral sclerosis
- A roadmap to ALS prevention: strategies and priorities
- A single copy transgenic mutant FUS strain reproduces age-dependent ALS phenotypes in <em>C. elegans</em>
- Absence of alsin function leads to corticospinal motor neuron vulnerability via novel disease mechanisms
- AI-based protein structure databases have the potential to accelerate rare diseases research: AlphaFoldDB and the case of IAHSP/Alsin
- Alfa-class prefoldin protein UXT is a novel interacting partner of Amyotrophic Lateral Sclerosis 2 (Als2) protein
- ALS-linked FUS mutations dysregulate G-quadruplex-dependent liquid-liquid phase separation and liquid-to-solid transition
- ALS2 regulates endosomal trafficking, postsynaptic development, and neuronal survival
- ALS2-related disorders in Spanish children
- ALS2-related disorders in Spanish children: a severely affected case of infantile ascending spastic paraplegia due to homozygous R704X mutation
- ALS2-Related Motor Neuron Diseases: From Symptoms to Molecules
- Alsin related disorders: literature review and case study with novel mutations
- Amyotrophic lateral sclerosis-Motor neuron disease with a wide clinical and genetic spectrum
- An Atypical Presentation of Upper Motor Neuron Predominant Juvenile Amyotrophic Lateral Sclerosis Associated with <em>TARDBP</em> Gene: A Case Report and Review of the Literature
- Are alsin and spartin novel interaction partners?
- Association of Variants in the SPTLC1 Gene With Juvenile Amyotrophic Lateral Sclerosis
- Atypical presentation of late-onset Sandhoff disease: a case report
- Author Response: Phenotypic Variability in ALS-FTD and Effect on Survival
- Better understanding the neurobiology of primary lateral sclerosis
- Central nervous system specific high molecular weight ALS2/alsin homophilic complex is enriched in mouse brain synaptosomes
- Clinical and molecular spectrum of a large Egyptian cohort with ALS2-related disorders of infantile-onset of clinical continuum IAHSP/JPLS
- Clinical feature difference between juvenile amyotrophic lateral sclerosis with SPTLC1 and FUS mutations
- Clinical presentation and natural history of infantile-onset ascending spastic paralysis from three families with an ALS2 founder variant
- Clinical profile and dynamic magnetic resonance imaging in Hirayama disease: a single-centered cross-sectional study in Nepal
- Clinical Trial and Postmarketing Safety of Onasemnogene Abeparvovec Therapy
- Clinically relevant mouse models of Charcot-Marie-Tooth type 2S
- Clonally expanded CD8 T cells characterize amyotrophic lateral sclerosis-4
- Cortical progression patterns in individual ALS patients across multiple timepoints: a mosaic-based approach for clinical use
- Distal axonopathy in an alsin-deficient mouse model
- Dysregulation of IGF-1/GLP-1 signaling in the progression of ALS: potential target activators and influences on neurological dysfunctions
- Early juvenile reading epilepsy and later frontotemporal dementia (FTD): expanding the clinical phenotype of C9ORF72 mutation?
- Early onset hereditary neuronopathies: an update on non-5q motor neuron diseases
- From COVID-19 to ALS: Looking Beyond Just Black and White
- FUS positive juvenile ALS-diagnostic and therapeutic insights from a 16-year-old female patient
- FUS-P525L Juvenile Amyotrophic Lateral Sclerosis and Intellectual Disability: Evidence for Association and Oligogenic Inheritance
- Generation and characterization of an endogenously tagged SPG11-human iPSC line by CRISPR/Cas9 mediated knock-in
- Genetics of primary lateral sclerosis
- Genotoxic Damage During Brain Development Presages Prototypical Neurodegenerative Disease
- Genotype-phenotype correlation in seven motor neuron disease families with novel ALS2 mutations
- Genotype-phenotype correlation in Tunisian patients with Amyotrophic Lateral Sclerosis
- Hirayama Disease
- Hypoexcitability of Motoneurons: An Early Pathological Sign in ALS
- Identification of two novel ALS2 mutations in infantile-onset ascending hereditary spastic paraplegia
- Immune modulation attenuates infantile neuronal ceroid lipofuscinosis in mice before and after disease onset
- Impaired mitochondrial accumulation and Lewy pathology in neuron-specific FBXO7-deficient mice
- Impaired nuclear transport induced by juvenile ALS causing P525L mutation in NLS domain of FUS: A molecular mechanistic study
- Infantile-onset ascending hereditary spastic paraplegia with bulbar involvement due to the novel ALS2 mutation c.2761C>T
- Inflammatory-Mediated Neuron-Glia Communication Modulates ALS Pathophysiology
- Interlinked role of ASN, TDP-43 and Miro1 with parkinopathy: Focus on targeted approach against neuropathy in parkinsonism
- Is it time to re-think juvenile-onset Rheumatic and Musculoskeletal Diseases? - First steps towards individualised treatments to meet agreed targets
- Is presymptomatic ALS perivascular?
- Juvenile amyotrophic lateral sclerosis associated with biallelic c.757delG mutation of sorbitol dehydrogenase gene
- Juvenile Amyotrophic Lateral Sclerosis: A Review
- Juvenile muscular atrophy of the distal upper extremity (Hirayama syndrome): a systematic review
- Late Presentation of Hirayama Disease With "Snake Eye Sign": A Case Report
- Lathyrism in Spain: Lessons from 68 publications following the 1936-39 Civil War
- Longitudinal intronic RNA-Seq analysis of Parkinson's disease patients reveals disease-specific nascent transcription
- Loss of ERLIN2 function leads to juvenile primary lateral sclerosis
- Measuring coping in people with amyotrophic lateral sclerosis using the Coping Index-ALS: A patient derived, Rasch compliant scale
- Mechanism of karyopherin-β2 binding and nuclear import of ALS variants FUS(P525L) and FUS(R495X)
- Molecular and cellular function of ALS2/alsin: implication of membrane dynamics in neuronal development and degeneration
- Motor outcomes in patients with infantile and juvenile Pompe disease: Lessons from neurophysiological findings
- Mutation screening of SPTLC1 and SPTLC2 in amyotrophic lateral sclerosis
- Myt1l haploinsufficiency leads to obesity and multifaceted behavioral alterations in mice
- Neurofilament Light Chain: A Translational Safety Biomarker for Drug-Induced Peripheral Neurotoxicity
- Neuronal Hypoexcitability and Dendritic Overbranching - The Case for Failed Compensatory Mechanisms in ALS Aetiology
- New Insights into the Neuromyogenic Spectrum of a Gain of Function Mutation in SPTLC1
- Novel FUS deletion in a patient with juvenile amyotrophic lateral sclerosis
- Nuclear accumulation of CHMP7 initiates nuclear pore complex injury and subsequent TDP-43 dysfunction in sporadic and familial ALS
- Orally administered branaplam does not impact neurogenesis in juvenile mice, rats, and dogs
- Oscillations With Mechanical Insufflation-Exsufflation in ALS: Time to Pause and Return to Basics?
- Palliative specialists for patients with ALS: Making best use of a limited resource
- Pridopidine modifies disease phenotype in a SOD1 mouse model of amyotrophic lateral sclerosis
- Probing the influence of mutations on FUS condensates, one molecule at a time
- Progressive spastic tetraplegia and axial hypotonia (STAHP) due to SOD1 deficiency: is it really a new entity?
- Proximity-based labeling reveals DNA damage-induced phosphorylation of fused in sarcoma (FUS) causes distinct changes in the FUS protein interactome
- Questioning the causality of HTT CAG-repeat expansions in FTD/ALS
- Re-evaluation of the symptoms of Hirayama disease through anatomical perspective
- Reader Response: Phenotypic Variability in ALS-FTD and Effect on Survival
- Sigma-1 receptor maintains ATAD3A as a monomer to inhibit mitochondrial fragmentation at the mitochondria-associated membrane in amyotrophic lateral sclerosis
- Sodium Phenylbutyrate-Taurursodiol for ALS
- SPG43 and ALS-like syndrome in the same family due to compound heterozygous mutations of the C19orf12 gene: a case description and brief review
- Spot in a drop: mutations in aberrant condensates
- SPTLC1 p.Leu38Arg, a novel mutation associated with childhood ALS
- Surgical Management of Hirayama Disease (Monomelic Amyotrophy): Systematic Review and Meta-Analysis of Patient-Level Data
- Synaptic FUS accumulation triggers early misregulation of synaptic RNAs in a mouse model of ALS
- The Benign Course of PLS: A Strong Point in Favor of an Earlier Differentiation From ALS
- The expanding clinical and genetic spectrum of alsin-related disorders: the first cohort of Brazilian patients
- The heterozygous deletion c.1509_1510delAG in exon 14 of FUS causes an aggressive childhood-onset ALS with cognitive impairment
- The N-terminal intrinsically disordered region mediates intracellular localization and self-oligomerization of ALS2
- The RabGEF ALS2 is a hypoxia inducible target associated with the acquisition of aggressive traits in tumor cells
- The SPTLC1 p.S331 mutation bridges sensory neuropathy and motor neuron disease and has implications for treatment