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45. Transmission ratio distortion in the spinal muscular atrophy locus: data from 314 prenatal tests. Botta A; Tacconelli A; Bagni I; Giardina E; Bonifazi E; Pietropolli A; Clementi M; Novelli G Neurology; 2005 Nov; 65(10):1631-5. PubMed ID: 16301493 [TBL] [Abstract][Full Text] [Related]
46. Two novel microsatellite markers for prenatal prediction of spinal muscular atrophy (SMA). Morrison KE; Daniels RJ; Suthers GK; Flynn GA; Francis MJ; Grewal PK; Dennis C; Buckle V; Ignatius J; Dubowitz V Hum Genet; 1993 Sep; 92(2):133-8. PubMed ID: 8370578 [TBL] [Abstract][Full Text] [Related]
47. [Diagnostic studies in patients and relatives with hereditary neuromuscular diseases]. Moser H Ther Umsch; 1995 Dec; 52(12):810-3. PubMed ID: 8539652 [TBL] [Abstract][Full Text] [Related]
48. Rapid diagnosis of infantile spinal muscular atrophy by direct amplification of amniocyte and CVS DNA. MacKenzie A; Besner A; Roy N J Med Genet; 1993 Feb; 30(2):162-3. PubMed ID: 8445624 [No Abstract] [Full Text] [Related]
49. Progress toward cloning of the gene responsible for childhood spinal muscular atrophy. Kleyn PW; Gilliam TC Semin Neurol; 1993 Sep; 13(3):276-82. PubMed ID: 8272599 [No Abstract] [Full Text] [Related]
50. Total anomalous pulmonary venous connection to unroofed coronary sinus diagnosed in a fetus with spinal muscular atrophy Type I. Krupickova S; Rigby ML; Jicinska H; Marais G; Rubens M; Carvalho JS Ultrasound Obstet Gynecol; 2017 Nov; 50(5):657-658. PubMed ID: 28170121 [No Abstract] [Full Text] [Related]
51. Olivopontocerebellar hypoplasia with anterior horn cell involvement (SMA) does not localize to chromosome 5q. Dubowitz V; Daniels RJ; Davies KE Neuromuscul Disord; 1995 Jan; 5(1):25-9. PubMed ID: 7719137 [No Abstract] [Full Text] [Related]
53. Recommendations for the diagnosis and management of typical childhood spinal muscular atrophy. Cuisset JM; Estournet B; Rev Neurol (Paris); 2012 Dec; 168(12):902-9. PubMed ID: 23107878 [TBL] [Abstract][Full Text] [Related]
54. Prenatal diagnosis of the acute form of proximal spinal muscular atrophy: experience on the acceptance of linkage analyses by the families. Huschenbett J; Hanke R; Pfeifer L; Speer A Prenat Diagn; 1993 Jul; 13(7):643-9. PubMed ID: 8105458 [TBL] [Abstract][Full Text] [Related]
55. Apparent SMA I unlinked to 5q. Cobben JM; Scheffer H; de Visser M; Begeer JH; Molenaar WM; van der Steege G; Buys CH; van Ommen GJ; Ten Kate LP J Med Genet; 1994 Mar; 31(3):242-4. PubMed ID: 8014975 [TBL] [Abstract][Full Text] [Related]
56. Prenatal aspects in spinal muscular atrophy: From early detection to early presymptomatic intervention. Tizzano EF; Zafeiriou D Eur J Paediatr Neurol; 2018 Nov; 22(6):944-950. PubMed ID: 30219357 [TBL] [Abstract][Full Text] [Related]
57. Carrier frequency of spinal muscular atrophy. Wilson RB; Ogino S Lancet; 2008 Nov; 372(9649):1542; author reply 1542. PubMed ID: 18984183 [No Abstract] [Full Text] [Related]
58. Spinal muscular atrophy: the challenges of 'doing the right thing'. Wilton NC Paediatr Anaesth; 2009 Nov; 19(11):1041-7. PubMed ID: 19807884 [No Abstract] [Full Text] [Related]
59. Progressive subcutaneous and periarticular calcifications in a patient with spinal muscular atrophy type III. Boltshauser E; Gehrmann J; Steinlin M; Eich G; Spiegel R Neuropediatrics; 1995 Dec; 26(6):331-2. PubMed ID: 8719752 [No Abstract] [Full Text] [Related]
60. 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] [Previous] [Next] [New Search]