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23. Spinal muscular atrophy with respiratory distress type 1 (SMARD1). Kaindl AM; Guenther UP; Rudnik-Schöneborn S; Varon R; Zerres K; Schuelke M; Hübner C; von Au K J Child Neurol; 2008 Feb; 23(2):199-204. PubMed ID: 18263757 [TBL] [Abstract][Full Text] [Related]
24. Yeo and Darras: Extraneuronal Phenotypes of Spinal Muscular Atrophy. Yeo CJJ; Darras BT Ann Neurol; 2021 Jan; 89(1):24-26. PubMed ID: 33051879 [No Abstract] [Full Text] [Related]
25. [The spectrum of spinal muscular atrophies: a population study]. Rudenskaia GE; Mamedova RA Zh Nevrol Psikhiatr Im S S Korsakova; 1997; 97(8):22-5. PubMed ID: 9343477 [TBL] [Abstract][Full Text] [Related]
26. De novo and inherited deletions of the 5q13 region in spinal muscular atrophies. Melki J; Lefebvre S; Burglen L; Burlet P; Clermont O; Millasseau P; Reboullet S; Bénichou B; Zeviani M; Le Paslier D Science; 1994 Jun; 264(5164):1474-7. PubMed ID: 7910982 [TBL] [Abstract][Full Text] [Related]
27. Mapping of acute (type I) spinal muscular atrophy to chromosome 5q12-q14. The French Spinal Muscular Atrophy Investigators. Melki J; Sheth P; Abdelhak S; Burlet P; Bachelot MF; Lathrop MG; Frezal J; Munnich A Lancet; 1990 Aug; 336(8710):271-3. PubMed ID: 1973971 [TBL] [Abstract][Full Text] [Related]
29. Infantile spinal muscular atrophy variant with congenital fractures in a female neonate: evidence for autosomal recessive inheritance. Courtens W; Johansson AB; Dachy B; Avni F; Telerman-Toppet N; Scheffer H J Med Genet; 2002 Jan; 39(1):74-7. PubMed ID: 11826032 [No Abstract] [Full Text] [Related]
30. Prenatal prediction of spinal muscular atrophy. Daniels RJ; Suthers GK; Morrison KE; Thomas NH; Francis MJ; Mathew CG; Loughlin S; Heiberg A; Wood D; Dubowitz V J Med Genet; 1992 Mar; 29(3):165-70. PubMed ID: 1348091 [TBL] [Abstract][Full Text] [Related]
31. The genetics of the spinal muscular atrophies. Baraitser M Prog Clin Biol Res; 1989; 306():75-84. PubMed ID: 2662214 [No Abstract] [Full Text] [Related]
32. Evidence for compound heterozygosity causing mild and severe forms of autosomal recessive spinal muscular atrophy. Talbot K; Rodrigues N; Bernert G; Bittner R; Davies K J Med Genet; 1996 Dec; 33(12):1019-21. PubMed ID: 9004135 [TBL] [Abstract][Full Text] [Related]
33. Proximal and distal spinal muscular atrophy in one family: molecular genetic studies provide further evidence for the non-allelic origin of both diseases. Spranger S; Rudnik-Schöneborn S; Spranger M; Schächtele M; Zerres K; Wirth B J Med Genet; 1997 Apr; 34(4):340-2. PubMed ID: 9138162 [TBL] [Abstract][Full Text] [Related]
37. Distal infantile spinal muscular atrophy associated with paralysis of the diaphragm: a variant of infantile spinal muscular atrophy. Bertini E; Gadisseux JL; Palmieri G; Ricci E; Di Capua M; Ferriere G; Lyon G Am J Med Genet; 1989 Jul; 33(3):328-35. PubMed ID: 2801766 [TBL] [Abstract][Full Text] [Related]
38. SPINAL MUSCULAR ATROPHY TYPE 1 AND POLAND SYNDROME: A NOVEL ASSOCIATION IN A MEXICAN FEMALE INFANT. Salinas-Torres VM Genet Couns; 2015; 26(3):339-42. PubMed ID: 26625666 [No Abstract] [Full Text] [Related]
39. Clinical and mutational characteristics of spinal muscular atrophy with respiratory distress type 1 in The Netherlands. Stalpers XL; Verrips A; Poll-The BT; Cobben JM; Snoeck IN; de Coo IF; Brooks A; Bulk S; Gooskens R; Fock A; Verschuuren-Bemelmans C; Sinke RJ; de Visser M; Lemmink HH Neuromuscul Disord; 2013 Jun; 23(6):461-8. PubMed ID: 23566544 [TBL] [Abstract][Full Text] [Related]
40. Molecular analysis of candidate genes on chromosome 5q13 in autosomal recessive spinal muscular atrophy: evidence of homozygous deletions of the SMN gene in unaffected individuals. Hahnen E; Forkert R; Marke C; Rudnik-Schöneborn S; Schönling J; Zerres K; Wirth B Hum Mol Genet; 1995 Oct; 4(10):1927-33. PubMed ID: 8595417 [TBL] [Abstract][Full Text] [Related] [Previous] [Next] [New Search]