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6. The effect of the Schwartz-Jampel syndrome on masticatory and facial musculatures--an electromyographic analysis. Regalo SC; Vitti M; Semprini M; de Mattos Mda G; Hallak JE; Brandão C; Serrano KV Electromyogr Clin Neurophysiol; 2005; 45(3):183-9. PubMed ID: 15981691 [TBL] [Abstract][Full Text] [Related]
7. 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]
8. A case of Schwartz-Jampel syndrome with cleft palate. Abdel-Aziz M; Azab NA Int J Pediatr Otorhinolaryngol; 2009 Nov; 73(11):1601-3. PubMed ID: 19733405 [TBL] [Abstract][Full Text] [Related]
10. [Schwartz-Jampel syndrome: a description of two adult siblings]. Carod-Artal FJ; Fernandes da Silva TV; Christino-Marinho PB; Bonfim-Souza D Rev Neurol; 2002 Jul 16-31; 35(2):131-4. PubMed ID: 12221624 [TBL] [Abstract][Full Text] [Related]
11. [Clinical and genetic features of Schwartz-Jampel syndrome in a Chinese child: case report and literature review]. Dai L; Fang F; Huang Y; Cheng H; Ren C Zhonghua Er Ke Za Zhi; 2015 Nov; 53(11):855-9. PubMed ID: 26758326 [TBL] [Abstract][Full Text] [Related]
12. The Schwartz-Jampel syndrome: Case report and review of literature. Basiri K; Fatehi F; Katirji B Adv Biomed Res; 2015; 4():163. PubMed ID: 26436077 [TBL] [Abstract][Full Text] [Related]
13. [A case of Isaac's syndrome--continuous muscle fiber activity syndrome]. Kuwasaki N; Shoji H; Tominaga H; Kaji M; Nonaka K No To Shinkei; 1986 Jun; 38(6):531-6. PubMed ID: 3730194 [TBL] [Abstract][Full Text] [Related]
14. [Schwartz-Jampel syndrome. Clinical and histopathological study of 4 cases]. Ben Hamida M; Miladi N; Ben Hamida C Rev Neurol (Paris); 1991; 147(4):279-84. PubMed ID: 2063077 [TBL] [Abstract][Full Text] [Related]
15. 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]
16. Schwartz-Jampel syndrome: an atypical form? Figuera LE; Jimenez-Gil FJ; García-Cruz MO; Cantú JM Am J Med Genet; 1993 Sep; 47(4):526-8. PubMed ID: 8256816 [TBL] [Abstract][Full Text] [Related]
17. Chondrodystrophic myotonia (Schwartz-Jampel syndrome): report of a new case and follow-up of patients initially reported in 1969. Edwards WC; Root AW Am J Med Genet; 1982 Sep; 13(1):51-6. PubMed ID: 7137221 [TBL] [Abstract][Full Text] [Related]
18. [Electromyographic analysis on juvenile muscular atrophy of unilateral upper extremity (author's transl)]. Nagaoka M; Hirayama K; Chida T; Yokochi M; Narabayashi H No To Shinkei; 1980 Aug; 32(8):821-8. PubMed ID: 7470328 [TBL] [Abstract][Full Text] [Related]
19. EMG and nerve conduction studies in children with congenital muscular dystrophy. Quijano-Roy S; Renault F; Romero N; Guicheney P; Fardeau M; Estournet B Muscle Nerve; 2004 Feb; 29(2):292-9. PubMed ID: 14755496 [TBL] [Abstract][Full Text] [Related]
20. Schwartz-Jampel syndrome: report of one case. Yang MT; Yang CC; Chu LW; Lee WT; Young C; Wang PJ Acta Paediatr Taiwan; 2002; 43(4):220-3. PubMed ID: 12238912 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]