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 *

191 related articles for article (PubMed ID: 18802676)

  • 21. 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]  

  • 22. 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]  

  • 23. Characterization of Ighmbp2 in motor neurons and implications for the pathomechanism in a mouse model of human spinal muscular atrophy with respiratory distress type 1 (SMARD1).
    Grohmann K; Rossoll W; Kobsar I; Holtmann B; Jablonka S; Wessig C; Stoltenburg-Didinger G; Fischer U; Hübner C; Martini R; Sendtner M
    Hum Mol Genet; 2004 Sep; 13(18):2031-42. PubMed ID: 15269181
    [TBL] [Abstract][Full Text] [Related]  

  • 24. 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]  

  • 25. [Mutation analysis and prenatal diagnosis for a case of spinal muscular atrophy with respiratory distress type 1].
    Zhang B; Guo D; Zheng J; Lu X; Zhang X; Wu Y
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2017 Apr; 34(2):213-215. PubMed ID: 28397221
    [TBL] [Abstract][Full Text] [Related]  

  • 26. Autosomal recessive axonal polyneuropathy in a sibling pair due to a novel homozygous mutation in IGHMBP2.
    Wagner JD; Huang L; Tetreault M; Majewski J; Boycott KM; Bulman DE; ; Dyment DA; McMillan HJ
    Neuromuscul Disord; 2015 Oct; 25(10):794-9. PubMed ID: 26298607
    [TBL] [Abstract][Full Text] [Related]  

  • 27. 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]  

  • 28. 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]  

  • 29. Clinical diversity caused by novel IGHMBP2 variants.
    Yuan JH; Hashiguchi A; Yoshimura A; Yaguchi H; Tsuzaki K; Ikeda A; Wada-Isoe K; Ando M; Nakamura T; Higuchi Y; Hiramatsu Y; Okamoto Y; Takashima H
    J Hum Genet; 2017 Jun; 62(6):599-604. PubMed ID: 28202949
    [TBL] [Abstract][Full Text] [Related]  

  • 30. 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]  

  • 31. 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]  

  • 32. 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]  

  • 33. Polyethylene glycol-coupled IGF1 delays motor function defects in a mouse model of spinal muscular atrophy with respiratory distress type 1.
    Krieger F; Elflein N; Saenger S; Wirthgen E; Rak K; Frantz S; Hoeflich A; Toyka KV; Metzger F; Jablonka S
    Brain; 2014 May; 137(Pt 5):1374-93. PubMed ID: 24681663
    [TBL] [Abstract][Full Text] [Related]  

  • 34. IGHMBP2-related clinical and genetic features in a cohort of Chinese Charcot-Marie-Tooth disease type 2 patients.
    Liu L; Li X; Hu Z; Mao X; Zi X; Xia K; Tang B; Zhang R
    Neuromuscul Disord; 2017 Feb; 27(2):193-199. PubMed ID: 28065684
    [TBL] [Abstract][Full Text] [Related]  

  • 35. 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]  

  • 36. Combined Genome Sequencing and RNA Analysis Reveals and Characterizes a Deep Intronic Variant in IGHMBP2 in a Patient With Spinal Muscular Atrophy With Respiratory Distress Type 1.
    Bodle EE; Zhu W; Velez-Bartolomei F; Tesi-Rocha A; Liu P; Bernstein JA
    Pediatr Neurol; 2021 Jan; 114():16-20. PubMed ID: 33189025
    [TBL] [Abstract][Full Text] [Related]  

  • 37. 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]  

  • 38. 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]  

  • 39. Impaired Local Translation of β-actin mRNA in Ighmbp2-Deficient Motoneurons: Implications for Spinal Muscular Atrophy with respiratory Distress (SMARD1).
    Surrey V; Zöller C; Lork AA; Moradi M; Balk S; Dombert B; Saal-Bauernschubert L; Briese M; Appenzeller S; Fischer U; Jablonka S
    Neuroscience; 2018 Aug; 386():24-40. PubMed ID: 29928949
    [TBL] [Abstract][Full Text] [Related]  

  • 40. Charcot Marie Tooth disease type 2S with late onset diaphragmatic weakness: An atypical case.
    Kulshrestha R; Forrester N; Antoniadi T; Willis T; Sethuraman SK; Samuels M
    Neuromuscul Disord; 2018 Dec; 28(12):1016-1021. PubMed ID: 30409445
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 10.