These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.
44. Tel Hashomer camptodactyly syndrome: report of a case with myopathic features. Patton MA; McDermot KD; Lake BD; Baraitser M J Med Genet; 1986 Jun; 23(3):268-71. PubMed ID: 3723560 [TBL] [Abstract][Full Text] [Related]
45. Marinesco-Sjögren Syndrome in an Emirati Child with a Novel Mutation in SIL1 Affecting the 5' Untranslated Region. Nair P; Hamzeh AR; Mohamed M; Tawfiq N; Al-Ali MT; Bastaki F Med Princ Pract; 2016; 25(6):580-582. PubMed ID: 27544240 [TBL] [Abstract][Full Text] [Related]
46. A benign congenital myopathy in an inbred Samaritan family. Lev D; Sadeh M; Watemberg N; Dabby R; Vinkler C; Ginzberg M; Lerman-Sagie T Eur J Paediatr Neurol; 2006 Jul; 10(4):182-5. PubMed ID: 16959509 [TBL] [Abstract][Full Text] [Related]
47. Marinesco-Sjögren syndrome: clinical and magnetic resonance imaging features in three children. McLaughlin JF; Pagon RA; Weinberger E; Haas JE Dev Med Child Neurol; 1996 Jul; 38(7):636-44. PubMed ID: 8674914 [TBL] [Abstract][Full Text] [Related]
48. The gene disrupted in Marinesco-Sjögren syndrome encodes SIL1, an HSPA5 cochaperone. Anttonen AK; Mahjneh I; Hämäläinen RH; Lagier-Tourenne C; Kopra O; Waris L; Anttonen M; Joensuu T; Kalimo H; Paetau A; Tranebjaerg L; Chaigne D; Koenig M; Eeg-Olofsson O; Udd B; Somer M; Somer H; Lehesjoki AE Nat Genet; 2005 Dec; 37(12):1309-11. PubMed ID: 16282978 [TBL] [Abstract][Full Text] [Related]
49. The clinical and myopathological features of oculopharyngodistal myopathy in a Chinese family. Lu H; Luan X; Yuan Y; Dong M; Sun W; Yan C Neuropathology; 2008 Dec; 28(6):599-603. PubMed ID: 18503509 [TBL] [Abstract][Full Text] [Related]
50. A nationwide survey on Marinesco-Sjögren syndrome in Japan. Goto M; Okada M; Komaki H; Sugai K; Sasaki M; Noguchi S; Nonaka I; Nishino I; Hayashi YK Orphanet J Rare Dis; 2014 Apr; 9():58. PubMed ID: 24755310 [TBL] [Abstract][Full Text] [Related]
51. Minicore myopathy with dominant inheritance. Paljärvi L; Kalimo H; Lang H; Savontaus ML; Sonninen V J Neurol Sci; 1987 Jan; 77(1):11-22. PubMed ID: 3806134 [TBL] [Abstract][Full Text] [Related]
52. [Centronuclear myopathy. Apropos of a new case]. Dubois B; Martin JJ; Develter S; Guérin M; Loeuille GA; Debeugny P; Farriaux JP Sem Hop; 1983 Feb; 59(8):561-5. PubMed ID: 6302904 [TBL] [Abstract][Full Text] [Related]
53. Minimal change myopathy: report of a case. Tzeng CY; Jong YJ; Chiang CH; Chaou WT J Formos Med Assoc; 1990 Dec; 89(12):1099-102. PubMed ID: 1982682 [TBL] [Abstract][Full Text] [Related]
54. Marinesco-Sjögren syndrome in a male with mild dysmorphism. Slavotinek A; Goldman J; Weisiger K; Kostiner D; Golabi M; Packman S; Wilcox W; Hoyme HE; Sherr E Am J Med Genet A; 2005 Mar; 133A(2):197-201. PubMed ID: 15633176 [TBL] [Abstract][Full Text] [Related]
55. Phenotype-genotype correlations in patients with Marinesco-Sjögren syndrome. Ezgu F; Krejci P; Li S; de Sousa C; Graham JM; Hansmann I; He W; Porpora K; Wand D; Wertelecki W; Schneider A; Wilcox WR Clin Genet; 2014 Jul; 86(1):74-84. PubMed ID: 23829326 [TBL] [Abstract][Full Text] [Related]
56. Mental retardation in congenital nonprogressive myopathy with uniform type 1 fibers. Jong YJ; Huang SC; Liu GC; Chiang CH Brain Dev; 1991 Nov; 13(6):444-6. PubMed ID: 1810161 [TBL] [Abstract][Full Text] [Related]