226 related articles for article (PubMed ID: 22981475)
1. [A rare cause of respiratory failure in infants: distal spinal-muscular atrophy 1 (DSMA1 or SMARD1)].
Chalançon M; Debillon T; Dieterich K; Commare MC
Arch Pediatr; 2012 Oct; 19(10):1082-5. PubMed ID: 22981475
[TBL] [Abstract][Full Text] [Related]
2. 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]
3. Infantile spinal muscular atrophy with respiratory distress type 1 (SMARD1).
Grohmann K; Varon R; Stolz P; Schuelke M; Janetzki C; Bertini E; Bushby K; Muntoni F; Ouvrier R; Van Maldergem L; Goemans NM; Lochmüller H; Eichholz S; Adams C; Bosch F; Grattan-Smith P; Navarro C; Neitzel H; Polster T; Topaloğlu H; Steglich C; Guenther UP; Zerres K; Rudnik-Schöneborn S; Hübner C
Ann Neurol; 2003 Dec; 54(6):719-24. PubMed ID: 14681881
[TBL] [Abstract][Full Text] [Related]
4. Mutation of gene in spinal muscular atrophy respiratory distress type I.
Wong VC; Chung BH; Li S; Goh W; Lee SL
Pediatr Neurol; 2006 Jun; 34(6):474-7. PubMed ID: 16765827
[TBL] [Abstract][Full Text] [Related]
5. Respiratory failure in infants due to spinal muscular atrophy with respiratory distress type 1.
Giannini A; Pinto AM; Rossetti G; Prandi E; Tiziano D; Brahe C; Nardocci N
Intensive Care Med; 2006 Nov; 32(11):1851-5. PubMed ID: 16964485
[TBL] [Abstract][Full Text] [Related]
6. Severe infantile neuropathy with diaphragmatic weakness and its relationship to SMARD1.
Pitt M; Houlden H; Jacobs J; Mok Q; Harding B; Reilly M; Surtees R
Brain; 2003 Dec; 126(Pt 12):2682-92. PubMed ID: 14506069
[TBL] [Abstract][Full Text] [Related]
7. A new mutation of IGHMBP2 gene in spinal muscular atrophy with respiratory distress type 1.
Tachi N; Kikuchi S; Kozuka N; Nogami A
Pediatr Neurol; 2005 Apr; 32(4):288-90. PubMed ID: 15797190
[TBL] [Abstract][Full Text] [Related]
8. Long-term observations of patients with infantile spinal muscular atrophy with respiratory distress type 1 (SMARD1).
Rudnik-Schöneborn S; Stolz P; Varon R; Grohmann K; Schächtele M; Ketelsen UP; Stavrou D; Kurz H; Hübner C; Zerres K
Neuropediatrics; 2004 Jun; 35(3):174-82. PubMed ID: 15248100
[TBL] [Abstract][Full Text] [Related]
9. Infantile spinal muscular atrophy with respiratory distress type 1: a case report.
AlSaman A; Tomoum H
J Child Neurol; 2010 Jun; 25(6):764-9. PubMed ID: 20197267
[TBL] [Abstract][Full Text] [Related]
10. Infantile spinal muscular atrophy with respiratory distress type I (SMARD 1): an atypical phenotype and review of the literature.
Messina MF; Messina S; Gaeta M; Rodolico C; Salpietro Damiano AM; Lombardo F; Crisafulli G; De Luca F
Eur J Paediatr Neurol; 2012 Jan; 16(1):90-4. PubMed ID: 22099258
[TBL] [Abstract][Full Text] [Related]
11. Severe phenotypes of SMARD1 associated with novel mutations of the IGHMBP2 gene and nuclear degeneration of muscle and Schwann cells.
Jędrzejowska M; Madej-Pilarczyk A; Fidziańska A; Mierzewska H; Pronicka E; Obersztyn E; Gos M; Pronicki M; Kmieć T; Migdał M; Mierzewska-Schmidt M; Walczak-Wojtkowska I; Konopka E; Hausmanowa-Petrusewicz I
Eur J Paediatr Neurol; 2014 Mar; 18(2):183-92. PubMed ID: 24388491
[TBL] [Abstract][Full Text] [Related]
12. 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]
13. 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]
14. The ultrastructure of peripheral nerve, motor end-plate and skeletal muscle in patients suffering from spinal muscular atrophy with respiratory distress type 1 (SMARD1).
Diers A; Kaczinski M; Grohmann K; Hübner C; Stoltenburg-Didinger G
Acta Neuropathol; 2005 Sep; 110(3):289-97. PubMed ID: 16025284
[TBL] [Abstract][Full Text] [Related]
15. Interfamilial phenotypic heterogeneity in SMARD1.
Joseph S; Robb SA; Mohammed S; Lillis S; Simonds A; Manzur AY; Walter S; Wraige E
Neuromuscul Disord; 2009 Mar; 19(3):193-5. PubMed ID: 19157874
[TBL] [Abstract][Full Text] [Related]
16. Clinical variability in distal spinal muscular atrophy type 1 (DSMA1): determination of steady-state IGHMBP2 protein levels in five patients with infantile and juvenile disease.
Guenther UP; Handoko L; Varon R; Stephani U; Tsao CY; Mendell JR; Lützkendorf S; Hübner C; von Au K; Jablonka S; Dittmar G; Heinemann U; Schuetz A; Schuelke M
J Mol Med (Berl); 2009 Jan; 87(1):31-41. PubMed ID: 18802676
[TBL] [Abstract][Full Text] [Related]
17. Clinical and mutational profile in spinal muscular atrophy with respiratory distress (SMARD): defining novel phenotypes through hierarchical cluster analysis.
Guenther UP; Varon R; Schlicke M; Dutrannoy V; Volk A; Hübner C; von Au K; Schuelke M
Hum Mutat; 2007 Aug; 28(8):808-15. PubMed ID: 17431882
[TBL] [Abstract][Full Text] [Related]
18. Noisy breathing and hemidiaphragm paralysis progressing to respiratory failure in an infant.
Baughn J; Gershan W; Rao A
Pediatr Pulmonol; 2011 Aug; 46(8):817-9. PubMed ID: 21360834
[TBL] [Abstract][Full Text] [Related]
19. [Spinal muscular atrophy-type I with respiratory distress].
Calderón-Rodríguez S; Cantarín-Extremera V; García-Teresa MÁ; Nieto-Moro M; Casado-Flores J; Martín-Del Valle F; Duat-Rodríguez A
Rev Neurol; 2013 May; 56(9):493-5. PubMed ID: 23629752
[TBL] [Abstract][Full Text] [Related]
20. Prenatal diagnosis of spinal muscular atrophy with respiratory distress (SMARD1) in a twin pregnancy.
Sangiuolo F; Filareto A; Giardina E; Nardone AM; Pilu G; Pietropolli A; Bertini E; Novelli G
Prenat Diagn; 2004 Oct; 24(10):839-41. PubMed ID: 15503272
[No Abstract] [Full Text] [Related]
[Next] [New Search]