245 related articles for article (PubMed ID: 25103837)
1. [Infantile spinal atrophy: our experience in the last 25 years].
Madrid Rodríguez A; Martínez Martínez PL; Ramos Fernández JM; Urda Cardona A; Martínez Antón J
An Pediatr (Barc); 2015 Mar; 82(3):159-65. PubMed ID: 25103837
[TBL] [Abstract][Full Text] [Related]
2. [Mutation analysis of SMN1 gene in patients with spinal muscular atrophy].
DU J; Qu YJ; Xiong H; Li EZ; Jin YW; Bai JL; Wang H; Song F
Zhonghua Er Ke Za Zhi; 2011 Jun; 49(6):411-5. PubMed ID: 21924051
[TBL] [Abstract][Full Text] [Related]
3. Spinal muscular atrophy with respiratory distress type 1 (SMARD1) Report of a Spanish case with extended clinicopathological follow-up.
San Millan B; Fernandez JM; Navarro C; Reparaz A; Teijeira S
Clin Neuropathol; 2016; 35(2):58-65. PubMed ID: 26709713
[TBL] [Abstract][Full Text] [Related]
4. 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]
5. Infantile spinal muscular atrophy with respiratory distress type I presenting without respiratory involvement: Novel mutations and review of the literature.
Luan X; Huang X; Liu X; Zhou H; Chen S; Cao L
Brain Dev; 2016 Aug; 38(7):685-9. PubMed ID: 26922252
[TBL] [Abstract][Full Text] [Related]
6. Mutations in the gene encoding immunoglobulin mu-binding protein 2 cause spinal muscular atrophy with respiratory distress type 1.
Grohmann K; Schuelke M; Diers A; Hoffmann K; Lucke B; Adams C; Bertini E; Leonhardt-Horti H; Muntoni F; Ouvrier R; Pfeufer A; Rossi R; Van Maldergem L; Wilmshurst JM; Wienker TF; Sendtner M; Rudnik-Schöneborn S; Zerres K; Hübner C
Nat Genet; 2001 Sep; 29(1):75-7. PubMed ID: 11528396
[TBL] [Abstract][Full Text] [Related]
7. [Study of SMN gene in Chinese children with spinal muscular atrophy].
Liu WL; Li F; Ma HW; Li HY
Zhongguo Dang Dai Er Ke Za Zhi; 2010 Jul; 12(7):539-43. PubMed ID: 20637152
[TBL] [Abstract][Full Text] [Related]
8. [Clinical, electrophysiological and molecular study of 26 chilean patients with spinal muscular atrophy].
Castiglioni C; Levicán J; Rodillo E; Garmendia MA; Díaz A; Pizarro L; Contreras L
Rev Med Chil; 2011 Feb; 139(2):197-204. PubMed ID: 21773657
[TBL] [Abstract][Full Text] [Related]
9. Genetic carrier screening for spinal muscular atrophy and spinal muscular atrophy with respiratory distress 1 in an isolated population in Israel.
Basel-Vanagaite L; Taub E; Drasinover V; Magal N; Brudner A; Zlotogora J; Shohat M
Genet Test; 2008 Mar; 12(1):53-6. PubMed ID: 18298318
[TBL] [Abstract][Full Text] [Related]
10. A genetic and phenotypic analysis in Spanish spinal muscular atrophy patients with c.399_402del AGAG, the most frequently found subtle mutation in the SMN1 gene.
Cuscó I; López E; Soler-Botija C; Jesús Barceló M; Baiget M; Tizzano EF
Hum Mutat; 2003 Aug; 22(2):136-43. PubMed ID: 12872254
[TBL] [Abstract][Full Text] [Related]
11. SMN2 and NAIP gene dosages in Vietnamese patients with spinal muscular atrophy.
Tran VK; Sasongko TH; Hong DD; Hoan NT; Dung VC; Lee MJ; Gunadi ; Takeshima Y; Matsuo M; Nishio H
Pediatr Int; 2008 Jun; 50(3):346-51. PubMed ID: 18533950
[TBL] [Abstract][Full Text] [Related]
12. Genetic testing and risk assessment for spinal muscular atrophy (SMA).
Ogino S; Wilson RB
Hum Genet; 2002 Dec; 111(6):477-500. PubMed ID: 12436240
[TBL] [Abstract][Full Text] [Related]
13. A multi-source approach to determine SMA incidence and research ready population.
Verhaart IEC; Robertson A; Leary R; McMacken G; König K; Kirschner J; Jones CC; Cook SF; Lochmüller H
J Neurol; 2017 Jul; 264(7):1465-1473. PubMed ID: 28634652
[TBL] [Abstract][Full Text] [Related]
14. Patient with spinal muscular atrophy with respiratory distress type 1 presenting initially with hypertonia.
Han C; Mai J; Tian T; He Y; Liao J; Wen F; Yi X; Yang Y
Brain Dev; 2015 May; 37(5):542-5. PubMed ID: 25280635
[TBL] [Abstract][Full Text] [Related]
15. Molecular analysis of the spinal muscular atrophy and neuronal apoptosis inhibitory protein genes in Saudi patients with spinal muscular atrophy.
Al-Jumah M; Majumdar R; Al-Rajeh S; Awada A; Chaves-Carbello E; Salih M; Al-Shahwan S; Al-Subiey K; Al-Uthaim S
Saudi Med J; 2003 Oct; 24(10):1052-4. PubMed ID: 14578966
[TBL] [Abstract][Full Text] [Related]
16. Delphi consensus on recommendations for the treatment of spinal muscular atrophy in Spain (RET-AME consensus).
Pitarch Castellano I; Cabrera-Serrano M; Calvo Medina R; Cattinari MG; Espinosa García S; Fernández-Ramos JA; García Campos O; Gómez-Andrés D; Grimalt Calatayud MA; Gutiérrez Martínez AJ; Ibáñez Albert E; Kapetanovic García S; Madruga-Garrido M; Martínez-Moreno M; Medina Cantillo J; Melián Suárez AI; Moreno Escribano A; Munell F; Nascimento Osorio A; Pascual-Pascual SI; Povedano M; Santana Casiano IM; Vázquez-Costa JF
Neurologia (Engl Ed); 2022 Apr; 37(3):216-228. PubMed ID: 35241415
[TBL] [Abstract][Full Text] [Related]
17. The natural course of infantile spinal muscular atrophy with respiratory distress type 1 (SMARD1).
Eckart M; Guenther UP; Idkowiak J; Varon R; Grolle B; Boffi P; Van Maldergem L; Hübner C; Schuelke M; von Au K
Pediatrics; 2012 Jan; 129(1):e148-56. PubMed ID: 22157136
[TBL] [Abstract][Full Text] [Related]
18. 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]
19. Multiplex ligation-dependent probe amplification improves diagnostics in spinal muscular atrophy.
Arkblad EL; Darin N; Berg K; Kimber E; Brandberg G; Lindberg C; Holmberg E; Tulinius M; Nordling M
Neuromuscul Disord; 2006 Dec; 16(12):830-8. PubMed ID: 17049859
[TBL] [Abstract][Full Text] [Related]
20. An atypical phenotype of a patient with infantile spinal muscular atrophy with respiratory distress type 1 (SMARD 1).
Wu S; Chen T; Li Y; Chen L; Xu Q; Xiao F; Bai Z
Eur J Med Genet; 2018 Oct; 61(10):602-606. PubMed ID: 29653221
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
