BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

178 related articles for article (PubMed ID: 22099258)

  • 1. 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]  

  • 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. 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]  

  • 4. 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]  

  • 5. 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]  

  • 6. [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]  

  • 7. 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]  

  • 8. 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]  

  • 9. 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]  

  • 10. 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]  

  • 11. Sporadic ALS with early-onset respiratory failure is not associated with IGHMBP2 gene mutations.
    Kühnlein P; Sperfeld AD; Endruhn S; Varon R; Ludolph AC; Hübner C
    J Neurol Neurosurg Psychiatry; 2008 Jun; 79(6):737-8. PubMed ID: 18187479
    [No Abstract]   [Full Text] [Related]  

  • 12. Spinal muscular atrophy with respiratory distress type 1 (SMARD1): a rare cause of hypotonia, diaphragmatic weakness, and respiratory failure in infants.
    Pekuz S; Güzin Y; Sarıtaş S; Kırbıyık Ö; Ünalp A; Yılmaz Ü
    Turk J Pediatr; 2022; 64(2):364-374. PubMed ID: 35611426
    [TBL] [Abstract][Full Text] [Related]  

  • 13. 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]  

  • 14. Diaphragmatic weakness with progressive sensory and motor polyneuropathy: case report of a neonatal IGHMBP2-related neuropathy.
    Gitiaux C; Bergounioux J; Magen M; Quijano-Roy S; Blanc T; Bonnefont JP; Desguerre I
    J Child Neurol; 2013 Jun; 28(6):787-90. PubMed ID: 22791546
    [TBL] [Abstract][Full Text] [Related]  

  • 15. 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]  

  • 16. Early infantile sensory-motor neuropathy with late onset respiratory distress.
    Blaschek A; Gläser D; Kuhn M; Schroeder AS; Wimmer C; Heimkes B; Schön C; Müller-Felber W
    Neuromuscul Disord; 2014 Mar; 24(3):269-71. PubMed ID: 24342282
    [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. 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]  

  • 19. Allelic heterogeneity of SMARD1 at the IGHMBP2 locus.
    Maystadt I; Zarhrate M; Landrieu P; Boespflug-Tanguy O; Sukno S; Collignon P; Melki J; Verellen-Dumoulin C; Munnich A; Viollet L
    Hum Mutat; 2004 May; 23(5):525-6. PubMed ID: 15108294
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Infantile-onset spinal muscular atrophy with respiratory distress-1 diagnosed in a 20-year-old man.
    Pierson TM; Tart G; Adams D; Toro C; Golas G; Tifft C; Gahl W
    Neuromuscul Disord; 2011 May; 21(5):353-5. PubMed ID: 21353777
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 9.