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6. Vocal cord and pharyngeal weakness with autosomal dominant distal myopathy: clinical description and gene localization to 5q31. Feit H; Silbergleit A; Schneider LB; Gutierrez JA; Fitoussi RP; Réyès C; Rouleau GA; Brais B; Jackson CE; Beckmann JS; Seboun E Am J Hum Genet; 1998 Dec; 63(6):1732-42. PubMed ID: 9837826 [TBL] [Abstract][Full Text] [Related]
7. Welander distal myopathy is not linked to other defined distal myopathy gene loci. Ahlberg G; Borg K; Edström L; Anvret M Neuromuscul Disord; 1997 Jun; 7(4):256-60. PubMed ID: 9196908 [TBL] [Abstract][Full Text] [Related]
8. Linkage to two separate loci in a family with a novel distal myopathy phenotype (MPD3). Haravuori H; Siitonen HA; Mahjneh I; Hackman P; Lahti L; Somer H; Peltonen L; Kestilä M; Udd B Neuromuscul Disord; 2004 Mar; 14(3):183-7. PubMed ID: 15036327 [TBL] [Abstract][Full Text] [Related]
9. The second kindred with autosomal dominant distal myopathy linked to chromosome 14q: genetic and clinical analysis. Hedera P; Petty EM; Bui MR; Blaivas M; Fink JK Arch Neurol; 2003 Sep; 60(9):1321-5. PubMed ID: 12975303 [TBL] [Abstract][Full Text] [Related]
10. A distinctive autosomal dominant vacuolar neuromyopathy linked to 19p13. Servidei S; Capon F; Spinazzola A; Mirabella M; Semprini S; de Rosa G; Gennarelli M; Sangiuolo F; Ricci E; Mohrenweiser HW; Dallapiccola B; Tonali P; Novelli G Neurology; 1999 Sep; 53(4):830-7. PubMed ID: 10489050 [TBL] [Abstract][Full Text] [Related]
11. A second locus for autosomal dominant myopathy with proximal muscle weakness and early respiratory muscle involvement: a likely chromosomal locus on 2q21. Xiang F; Nicolao P; Chapon F; Edström L; Anvret M; Zhang Z Neuromuscul Disord; 1999 Jul; 9(5):308-12. PubMed ID: 10407851 [TBL] [Abstract][Full Text] [Related]
12. Clinical delineation and localization to chromosome 9p13.3-p12 of a unique dominant disorder in four families: hereditary inclusion body myopathy, Paget disease of bone, and frontotemporal dementia. Kovach MJ; Waggoner B; Leal SM; Gelber D; Khardori R; Levenstien MA; Shanks CA; Gregg G; Al-Lozi MT; Miller T; Rakowicz W; Lopate G; Florence J; Glosser G; Simmons Z; Morris JC; Whyte MP; Pestronk A; Kimonis VE Mol Genet Metab; 2001 Dec; 74(4):458-75. PubMed ID: 11749051 [TBL] [Abstract][Full Text] [Related]
13. A novel autosomal dominant distal myopathy with early respiratory failure: clinico-pathologic characteristics and exclusion of linkage to candidate genetic loci. Chinnery PF; Johnson MA; Walls TJ; Gibson GJ; Fawcett PR; Jamieson S; Fulthorpe JJ; Cullen M; Hudgson P; Bushby KM Ann Neurol; 2001 Apr; 49(4):443-52. PubMed ID: 11310621 [TBL] [Abstract][Full Text] [Related]
14. Welander hereditary distal myopathy, a molecular genetic comparison to hereditary myopathies with inclusion bodies. Ahlberg G; Borg K; Edström L; Anvret M Neuromuscul Disord; 1998 Apr; 8(2):111-4. PubMed ID: 9608564 [TBL] [Abstract][Full Text] [Related]
15. A locus for autosomal dominant posterior polar cataract on chromosome 1p. Ionides AC; Berry V; Mackay DS; Moore AT; Bhattacharya SS; Shiels A Hum Mol Genet; 1997 Jan; 6(1):47-51. PubMed ID: 9002669 [TBL] [Abstract][Full Text] [Related]
16. Linkage analysis of candidate regions in Swedish nonsyndromic cleft lip with or without cleft palate families. Wong FK; Hagberg C; Karsten A; Larson O; Gustavsson M; Huggare J; Larsson C; Teh BT; Linder-Aronson S Cleft Palate Craniofac J; 2000 Jul; 37(4):357-62. PubMed ID: 10912714 [TBL] [Abstract][Full Text] [Related]
17. A distinct phenotype of distal myopathy in a large Finnish family. Mahjneh I; Haravuori H; Paetau A; Anderson LV; Saarinen A; Udd B; Somer H Neurology; 2003 Jul; 61(1):87-92. PubMed ID: 12847162 [TBL] [Abstract][Full Text] [Related]
18. Oculopharyngodistal myopathy is a distinct entity: clinical and genetic features of 47 patients. Durmus H; Laval SH; Deymeer F; Parman Y; Kiyan E; Gokyigiti M; Ertekin C; Ercan I; Solakoglu S; Karcagi V; Straub V; Bushby K; Lochmüller H; Serdaroglu-Oflazer P Neurology; 2011 Jan; 76(3):227-35. PubMed ID: 21242490 [TBL] [Abstract][Full Text] [Related]
19. Autosomal dominant myofibrillar myopathy with arrhythmogenic right ventricular cardiomyopathy linked to chromosome 10q. Melberg A; Oldfors A; Blomström-Lundqvist C; Stålberg E; Carlsson B; Larrson E; Lidell C; Eeg-Olofsson KE; Wikström G; Henriksson G; Dahl N Ann Neurol; 1999 Nov; 46(5):684-92. PubMed ID: 10970245 [TBL] [Abstract][Full Text] [Related]
20. Genetic linkage of Welander distal myopathy to chromosome 2p13. Ahlberg G; von Tell D; Borg K; Edström L; Anvret M Ann Neurol; 1999 Sep; 46(3):399-404. PubMed ID: 10482271 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]