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 *

228 related articles for article (PubMed ID: 22981475)

  • 41. Genomic rearrangements at the IGHMBP2 gene locus in two patients with SMARD1.
    Guenther UP; Schuelke M; Bertini E; D'Amico A; Goemans N; Grohmann K; Hübner C; Varon R
    Hum Genet; 2004 Sep; 115(4):319-26. PubMed ID: 15290238
    [TBL] [Abstract][Full Text] [Related]  

  • 42. 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]  

  • 43. [Progressive spinal amyotrophy type I or Werdnig-Hoffman disease. Apropos of 5 cases in Dakar (Senegal)].
    Ndiaye O; Sall G; Sylla A; Diouf S; Diagne I; Kuakuvi N
    Bull Soc Pathol Exot; 2002 Jun; 95(2):81-2. PubMed ID: 12145964
    [TBL] [Abstract][Full Text] [Related]  

  • 44. Early diaphragmatic paralysis. In infants with genetic disorders.
    Sivan Y; Galvis A
    Clin Pediatr (Phila); 1990 Mar; 29(3):169-71. PubMed ID: 2407409
    [TBL] [Abstract][Full Text] [Related]  

  • 45. A new mutation of IGHMBP2 gene.
    Guenther UP; Schuelke M; Grohmann K; Varon R
    Pediatr Neurol; 2006 Feb; 34(2):168. PubMed ID: 16458836
    [No Abstract]   [Full Text] [Related]  

  • 46. IGHMBP2 is a ribosome-associated helicase inactive in the neuromuscular disorder distal SMA type 1 (DSMA1).
    Guenther UP; Handoko L; Laggerbauer B; Jablonka S; Chari A; Alzheimer M; Ohmer J; Plöttner O; Gehring N; Sickmann A; von Au K; Schuelke M; Fischer U
    Hum Mol Genet; 2009 Apr; 18(7):1288-300. PubMed ID: 19158098
    [TBL] [Abstract][Full Text] [Related]  

  • 47. Neurogenic muscle hypertrophy in type III spinal muscular atrophy.
    Oh J; Kim SM; Shim DS; Sunwoo IN
    J Neurol Sci; 2011 Sep; 308(1-2):147-8. PubMed ID: 21742346
    [TBL] [Abstract][Full Text] [Related]  

  • 48. 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]  

  • 49. Development of a novel severe mouse model of spinal muscular atrophy with respiratory distress type 1: FVB-nmd.
    Shababi M; Smith CE; Kacher M; Alrawi Z; Villalón E; Davis D; Bryda EC; Lorson CL
    Biochem Biophys Res Commun; 2019 Dec; 520(2):341-346. PubMed ID: 31604525
    [TBL] [Abstract][Full Text] [Related]  

  • 50. 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]  

  • 51. 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]  

  • 52. [Acute respiratory insufficiency as the initial clinical manifestation of spinal muscular atrophy].
    Poets C; Heyer R; von der Hardt H; Walter GF
    Monatsschr Kinderheilkd; 1990 Mar; 138(3):157-9. PubMed ID: 2352537
    [TBL] [Abstract][Full Text] [Related]  

  • 53. 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]  

  • 54. Spinal muscular atrophy with respiratory distress type 1: Clinical phenotypes, molecular pathogenesis and therapeutic insights.
    Saladini M; Nizzardo M; Govoni A; Taiana M; Bresolin N; Comi GP; Corti S
    J Cell Mol Med; 2020 Jan; 24(2):1169-1178. PubMed ID: 31802621
    [TBL] [Abstract][Full Text] [Related]  

  • 55. Werdnig-Hoffmann disease and chronic distal spinal muscular atrophy with apparent autosomal dominant inheritance.
    Boylan KB; Cornblath DR
    Ann Neurol; 1992 Sep; 32(3):404-7. PubMed ID: 1416812
    [TBL] [Abstract][Full Text] [Related]  

  • 56. Sleep disordered breathing in spinal muscular atrophy.
    Mellies U; Dohna-Schwake C; Stehling F; Voit T
    Neuromuscul Disord; 2004 Dec; 14(12):797-803. PubMed ID: 15564035
    [TBL] [Abstract][Full Text] [Related]  

  • 57. A congenital myopathy with diaphragmatic weakness not linked to the SMARD1 locus.
    Hartley L; Kinali M; Knight R; Mercuri E; Hubner C; Bertini E; Manzur AY; Jimenez-Mallebrera C; Sewry CA; Muntoni F
    Neuromuscul Disord; 2007 Feb; 17(2):174-9. PubMed ID: 17236770
    [TBL] [Abstract][Full Text] [Related]  

  • 58. Spinal muscular atrophy with respiratory distress type 1: A multicenter retrospective study.
    Viguier A; Lauwers-Cances V; Cintas P; Manel V; Peudenier S; Desguerre I; Quijano-Roy S; Vanhulle C; Fradin M; Isapof A; Jokic M; Mathieu-Dramard M; Dieterich K; Petit F; Magdelaine C; Giuliano F; Gras D; Haye D; Nizon M; Magen M; Bieth E; Cances C
    Neuromuscul Disord; 2019 Feb; 29(2):114-126. PubMed ID: 30598237
    [TBL] [Abstract][Full Text] [Related]  

  • 59. One novel and one recurrent mutation in IGHMBP2 gene, causing severe spinal muscular atrophy respiratory distress 1 with onset soon after birth.
    Litvinenko I; Kirov AV; Georgieva R; Todorov T; Malinova Z; Mitev V; Todorova A
    J Child Neurol; 2014 Jun; 29(6):799-802. PubMed ID: 23449687
    [TBL] [Abstract][Full Text] [Related]  

  • 60. Neonatal adrenoleukodystrophy presenting as infantile progressive spinal muscular atrophy.
    Paul DA; Goldsmith LS; Miles DK; Moser AB; Spiro AJ; Grover WD
    Pediatr Neurol; 1993; 9(6):496-7. PubMed ID: 7605563
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 12.