253 related articles for article (PubMed ID: 11941538)
1. Structural and functional mutations of the perlecan gene cause Schwartz-Jampel syndrome, with myotonic myopathy and chondrodysplasia.
Arikawa-Hirasawa E; Le AH; Nishino I; Nonaka I; Ho NC; Francomano CA; Govindraj P; Hassell JR; Devaney JM; Spranger J; Stevenson RE; Iannaccone S; Dalakas MC; Yamada Y
Am J Hum Genet; 2002 May; 70(5):1368-75. PubMed ID: 11941538
[TBL] [Abstract][Full Text] [Related]
2. Schwartz-Jampel syndrome and perlecan deficiency.
Stum M; Davoine CS; Fontaine B; Nicole S
Acta Myol; 2005 Oct; 24(2):89-92. PubMed ID: 16550923
[TBL] [Abstract][Full Text] [Related]
3. Dyssegmental dysplasia, Silverman-Handmaker type, is caused by functional null mutations of the perlecan gene.
Arikawa-Hirasawa E; Wilcox WR; Le AH; Silverman N; Govindraj P; Hassell JR; Yamada Y
Nat Genet; 2001 Apr; 27(4):431-4. PubMed ID: 11279527
[TBL] [Abstract][Full Text] [Related]
4. Spectrum of HSPG2 (Perlecan) mutations in patients with Schwartz-Jampel syndrome.
Stum M; Davoine CS; Vicart S; Guillot-Noël L; Topaloglu H; Carod-Artal FJ; Kayserili H; Hentati F; Merlini L; Urtizberea JA; Hammouda el-H; Quan PC; Fontaine B; Nicole S
Hum Mutat; 2006 Nov; 27(11):1082-91. PubMed ID: 16927315
[TBL] [Abstract][Full Text] [Related]
5. Dyssegmental dysplasia, Silverman-Handmaker type: unexpected role of perlecan in cartilage development.
Arikawa-Hirasawa E; Wilcox WR; Yamada Y
Am J Med Genet; 2001; 106(4):254-7. PubMed ID: 11891676
[TBL] [Abstract][Full Text] [Related]
6. A missense mutation in domain III in HSPG2 in Schwartz-Jampel syndrome compromises secretion of perlecan into the extracellular space.
Iwata S; Ito M; Nakata T; Noguchi Y; Okuno T; Ohkawara B; Masuda A; Goto T; Adachi M; Osaka H; Nonaka R; Arikawa-Hirasawa E; Ohno K
Neuromuscul Disord; 2015 Aug; 25(8):667-71. PubMed ID: 26031903
[TBL] [Abstract][Full Text] [Related]
7. Impact of the heparan sulfate proteoglycan perlecan on human disease and health.
Arikawa-Hirasawa E
Am J Physiol Cell Physiol; 2022 Jun; 322(6):C1117-C1122. PubMed ID: 35417267
[TBL] [Abstract][Full Text] [Related]
8. Reduced perlecan in mice results in chondrodysplasia resembling Schwartz-Jampel syndrome.
Rodgers KD; Sasaki T; Aszodi A; Jacenko O
Hum Mol Genet; 2007 Mar; 16(5):515-28. PubMed ID: 17213231
[TBL] [Abstract][Full Text] [Related]
9. Dyssegmental dysplasia Rolland-Desbuquois type is caused by pathogenic variants in HSPG2 - a founder haplotype shared in five patients.
Farshadyeganeh P; Yamada T; Ohashi H; Nishimura G; Fujita H; Oishi Y; Nunode M; Ishikawa S; Murotsuki J; Yamashita Y; Ikegawa S; Ogi T; Arikawa-Hirasawa E; Ohno K
J Hum Genet; 2024 Jun; 69(6):235-244. PubMed ID: 38424183
[TBL] [Abstract][Full Text] [Related]
10. Perlecan, the major proteoglycan of basement membranes, is altered in patients with Schwartz-Jampel syndrome (chondrodystrophic myotonia).
Nicole S; Davoine CS; Topaloglu H; Cattolico L; Barral D; Beighton P; Hamida CB; Hammouda H; Cruaud C; White PS; Samson D; Urtizberea JA; Lehmann-Horn F; Weissenbach J; Hentati F; Fontaine B
Nat Genet; 2000 Dec; 26(4):480-3. PubMed ID: 11101850
[TBL] [Abstract][Full Text] [Related]
11. Evidence of a dosage effect and a physiological endplate acetylcholinesterase deficiency in the first mouse models mimicking Schwartz-Jampel syndrome neuromyotonia.
Stum M; Girard E; Bangratz M; Bernard V; Herbin M; Vignaud A; Ferry A; Davoine CS; Echaniz-Laguna A; René F; Marcel C; Molgó J; Fontaine B; Krejci E; Nicole S
Hum Mol Genet; 2008 Oct; 17(20):3166-79. PubMed ID: 18647752
[TBL] [Abstract][Full Text] [Related]
12. Electrophysiological studies in a mouse model of Schwartz-Jampel syndrome demonstrate muscle fiber hyperactivity of peripheral nerve origin.
Echaniz-Laguna A; Rene F; Marcel C; Bangratz M; Fontaine B; Loeffler JP; Nicole S
Muscle Nerve; 2009 Jul; 40(1):55-61. PubMed ID: 19367640
[TBL] [Abstract][Full Text] [Related]
13. Perlecan Knockdown Significantly Alters Extracellular Matrix Composition and Organization During Cartilage Development.
Ocken AR; Ku MM; Kinzer-Ursem TL; Calve S
Mol Cell Proteomics; 2020 Jul; 19(7):1220-1235. PubMed ID: 32381549
[TBL] [Abstract][Full Text] [Related]
14. Phenotypic and molecular characterization of a novel case of dyssegmental dysplasia, Silverman-Handmaker type.
Rieubland C; Jacquemont S; Mittaz L; Osterheld MC; Vial Y; Superti-Furga A; Unger S; Bonafé L
Eur J Med Genet; 2010; 53(5):294-8. PubMed ID: 20542149
[TBL] [Abstract][Full Text] [Related]
15. Identification of a novel splice site HSPG2 mutation and prenatal diagnosis in Schwartz Jampel Syndrome type 1 using whole exome sequencing.
Das Bhowmik A; Dalal A; Matta D; Kandadai RM; Kanikannan MA; Aggarwal S
Neuromuscul Disord; 2016 Nov; 26(11):809-814. PubMed ID: 27521129
[TBL] [Abstract][Full Text] [Related]
16. Clinico-pathogenetic findings and management of chondrodystrophic myotonia (Schwartz-Jampel syndrome): a case report.
Ho NC; Sandusky S; Madike V; Francomano CA; Dalakas MC
BMC Neurol; 2003 Jul; 3():3. PubMed ID: 12839625
[TBL] [Abstract][Full Text] [Related]
17. 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; Sarrazin N; Devaux J; Zambroni D; Echaniz-Laguna A; René F; Boërio D; Davoine CS; Fontaine B; Feltri ML; Benoit E; Nicole S
Am J Pathol; 2012 May; 180(5):2040-55. PubMed ID: 22449950
[TBL] [Abstract][Full Text] [Related]
18. Dyssegmental dysplasia, Silverman-Handmaker type: A challenging antenatal diagnosis in a dizygotic twin pregnancy.
Basalom S; Trakadis Y; Shear R; Azouz ME; De Bie I
Mol Genet Genomic Med; 2018 May; 6(3):452-456. PubMed ID: 29526034
[TBL] [Abstract][Full Text] [Related]
19. Evaluation of Human-Induced Pluripotent Stem Cells Derived from a Patient with Schwartz-Jampel Syndrome Revealed Distinct Hyperexcitability in the Skeletal Muscles.
Yamashita Y; Nakada S; Nakamura K; Sakurai H; Ohno K; Goto T; Mabuchi Y; Akazawa C; Hattori N; Arikawa-Hirasawa E
Biomedicines; 2023 Mar; 11(3):. PubMed ID: 36979792
[TBL] [Abstract][Full Text] [Related]
20. Statin-Induced Myopathy in a Patient with Schwartz-Jampel Syndrome.
Rajpal MK; Sedki FK; Eid TJ
J Pharm Pract; 2023 Nov; ():8971900231213694. PubMed ID: 37931642
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]