Associated Papers
Structural insights on perlecan and Schwartz-Jampel syndrome.
Sohail AA et al.
Matrix Biology : Journal of the International Society for Matrix Biology, 2025
Expanding genetic and clinical aspects of Schwartz-Jampel syndrome: A report of two cases with literature review.
Elahi Vahed I et al.
Molecular Genetics and Metabolism Reports, 2024
Dyssegmental dysplasia Rolland-Desbuquois type is caused by pathogenic variants in HSPG2 - a founder haplotype shared in five patients.
Farshadyeganeh P et al.
Journal of Human Genetics, 2024
Proteoglycan Dysfunction: A Common Link Between Intervertebral Disc Degeneration and Skeletal Dysplasia.
Sao K et al.
Neurospine, 2024
Novel HSPG2 Gene Mutation Causing Schwartz-Jampel Syndrome in a Moroccan Family: A Literature Review.
Brugnoni R et al.
Genes, 2023
A Novel Pathogenic HSPG2 Mutation in Schwartz-Jampel Syndrome.
Lin PY et al.
Frontiers in Neurology, 2021
A missense mutation in domain III in HSPG2 in Schwartz-Jampel syndrome compromises secretion of perlecan into the extracellular space.
Iwata S et al.
Neuromuscular Disorders : Nmd, 2015
Exome sequencing identifies a rare HSPG2 variant associated with familial idiopathic scoliosis.
Baschal EE et al.
G3 (bethesda, Md.), 2014
A mouse model of Schwartz-Jampel syndrome reveals myelinating Schwann cell dysfunction with persistent axonal depolarization in vitro and distal peripheral nerve hyperexcitability when perlecan is lacking.
Bangratz M et al.
The American Journal of Pathology, 2012
Basement membranes and human disease.
Van Agtmael T et al.
Cell and Tissue Research, 2010
Electrophysiological studies in a mouse model of Schwartz-Jampel syndrome demonstrate muscle fiber hyperactivity of peripheral nerve origin.
Echaniz-Laguna A et al.
Muscle & Nerve, 2009
Evidence of a dosage effect and a physiological endplate acetylcholinesterase deficiency in the first mouse models mimicking Schwartz-Jampel syndrome neuromyotonia.
Stum M et al.
Human Molecular Genetics, 2008
Reduced perlecan in mice results in chondrodysplasia resembling Schwartz-Jampel syndrome.
Rodgers KD et al.
Human Molecular Genetics, 2007
Spectrum of HSPG2 (Perlecan) mutations in patients with Schwartz-Jampel syndrome.
Stum M et al.
Human Mutation, 2006
Schwartz-Jampel syndrome and perlecan deficiency.
Stum M et al.
Acta Myologica : Myopathies and Cardiomyopathies : Official Journal of the Mediterranean Society of Myology, 2005
Perlecan, the major proteoglycan of basement membranes, is altered in patients with Schwartz-Jampel syndrome (chondrodystrophic myotonia).
Nicole S et al.
Nature Genetics, 2000