These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

150 related articles for article (PubMed ID: 23560007)

  • 1. Heterogeneity in spinal muscular atrophy with respiratory distress type 1.
    Majid A; Talat K; Colin L; Caroline R; Helen K; Christian de G
    J Pediatr Neurosci; 2012 Sep; 7(3):197-9. PubMed ID: 23560007
    [TBL] [Abstract][Full Text] [Related]  

  • 2. 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]  

  • 3. Growing up with spinal muscular atrophy with respiratory distress (SMARD1).
    Hamilton MJ; Longman C; O'Hara A; Kirkpatrick M; McWilliam R
    Neuromuscul Disord; 2015 Feb; 25(2):169-71. PubMed ID: 25454169
    [TBL] [Abstract][Full Text] [Related]  

  • 4. 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]  

  • 5. 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]  

  • 6. 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]  

  • 7. 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]  

  • 8. 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]  

  • 9. 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]  

  • 10. 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]  

  • 11. 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]  

  • 12. 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]  

  • 13. 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]  

  • 14. Spinal muscular atrophy with respiratory distress syndrome (SMARD1): Case report and review of literature.
    Lingappa L; Shah N; Motepalli AS; Shaik F
    Ann Indian Acad Neurol; 2016; 19(3):395-8. PubMed ID: 27570397
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Case report: Heterozygous variation in the IGHMBP2 gene leading to spinal muscular atrophy with respiratory distress type 1.
    Zhou C; Chen Z; Chen Q; Feng X
    Front Neurol; 2024; 15():1289625. PubMed ID: 38872814
    [TBL] [Abstract][Full Text] [Related]  

  • 16. The wide spectrum of clinical phenotypes of spinal muscular atrophy with respiratory distress type 1: a systematic review.
    Porro F; Rinchetti P; Magri F; Riboldi G; Nizzardo M; Simone C; Zanetta C; Faravelli I; Corti S
    J Neurol Sci; 2014 Nov; 346(1-2):35-42. PubMed ID: 25248952
    [TBL] [Abstract][Full Text] [Related]  

  • 17. 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]  

  • 18. Variations of IGHMBP2 gene was not the major cause of Han Chinese patients with non-5q-spinal muscular atrophies.
    Lin X; Zhang QJ; He J; Lin MT; Murong SX; Wang N; Chen WJ
    J Child Neurol; 2014 Aug; 29(8):NP35-9. PubMed ID: 24022109
    [TBL] [Abstract][Full Text] [Related]  

  • 19. 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]  

  • 20. 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]  

    [Next]    [New Search]
    of 8.