Category Ranking
98%
Total Visits
921
Avg Visit Duration
2 minutes
Citations
20
Article Abstract
Download full-text PDF |
Source |
|---|---|
| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6469384 | PMC |
| http://dx.doi.org/10.1007/s10875-018-0538-3 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Bi-Allelic Variants in MICU1 Cause Myopathy With Extrapyramidal Signs: Case Series, Phenotypic Spectrum, and Genotype-Phenotype Correlations From 61 Patients.
Clin Genet
September 2025
Department of Genetics and Molecular Biology, School of Medicine, Isfahan University of Medical Sciences, Isfahan, Iran.
Myopathy with extrapyramidal signs (MPXPS) is a rare, autosomal-recessive, multisystem disorder caused by biallelic loss-of-function (LOF) variants in MICU1, the calcium-sensing gatekeeper of the mitochondrial calcium uniporter. We clinically and genetically characterized seven affected individuals from six Iranian-Turkish consanguineous families and combined these data with 54 previously published cases (total of 62). The targeted neuromuscular assessment, along with muscle biopsy and exome sequencing, identified six pathogenic MICU1 variants, including c.
View Article and Find Full Text PDFClinical and Genetic Characterization of the Largest Cohort of Patients With D3 Limb-Girdle Muscular Dystrophy in an Isolated Uruguayan Population.
Eur J Neurol
September 2025
Academic Unit of Neurology, Hospital de Clínicas, Facultad de Medicina, Universidad de la República, Montevideo, Uruguay.
Background: Limb-girdle muscular dystrophies (LGMD) are a heterogeneous group of genetic disorders characterized by progressive proximal weakness. LGMD D3 is an extremely rare autosomal dominant myopathy caused by pathogenic variants in the HNRNPDL gene encoding a protein related to RNA processing. To date, only six countries and seven families have been reported worldwide: Brazil, China and Italy with the pathogenic variant c.
View Article and Find Full Text PDFThe Impact of Strength Changes on Active Function Following Botulinum Neurotoxin-A (BoNT-A): A Systematic Review.
Toxins (Basel)
July 2025
Department of Physiotherapy, Epworth Rehabilitation, Epworth Healthcare, Richmond, Melbourne 3121, Australia.
Botulinum neurotoxin-A (BoNT-A) injections are effective in reducing focal limb spasticity; however, their impact on strength and active function needs to be established. This review was a secondary analysis aimed at evaluating changes to active function in the context of muscle strength changes following BoNT-A intramuscular injection for adult upper and lower limb spasticity. The original review searched eight databases (CINAHL, Cochrane Central Register of Controlled Trials (CENTRAL), Embase, Google Scholar, MEDLINE, PEDro, PubMed, Web of Science) and was conducted with methodology that followed the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guidelines as described in section 6.
View Article and Find Full Text PDFKIF1C-related disorders: spastic ataxia or hypomyelinating leukodystrophy? A paradigm of classification ambiguity.
Neurogenetics
August 2025
Unit of Rare Neurological Diseases, Department of Clinical Neurosciences, Fondazione IRCCS Istituto Neurologico Carlo Besta, via Celoria 11, 20133, Milano, Italia.
A 40-year-old man with adult-onset spastic-ataxia and tremor showed a leukoencephalopathy with a hypomyelinating pattern on brain MRI. Whole-exome sequencing identified two novel likely pathogenic variants in KIF1C, a gene associated with spastic-ataxia type 2 (SPAX2). This case supports including KIF1C among the causes of adult-onset hypomyelinating leukodystrophies and highlights the diagnostic overlap between spastic-ataxia, hereditary spastic paraplegia, and hypomyelinating leukodystrophies, underscoring the limitations of current nomenclature.
View Article and Find Full Text PDFThe novel missense variant D40V causes a young adult presentation of ANXA11-related myopathy.
Neuromuscul Disord
July 2025
Department of Neurology, School of Medical Sciences, University of Campinas (UNICAMP), Campinas, SP, Brazil. Electronic address:
Pathogenic variants in the ANXA11 gene, which encodes the calcium-dependent phospholipid ligand protein Annexin A11, have been recently associated with amyotrophic lateral sclerosis, frontotemporal dementia and/or muscle disease. ANXA11-related myopathy is characterized by slowly progressive adult-onset limb-girdle weakness combined with axial and facial muscle involvement. Here we expand the spectrum of ANXA11-related myopathy with the description of a 38-year-old Brazilian woman with prominent distal and bulbar manifestations combined with dropped head caused by the novel p.
View Article and Find Full Text PDF