Mots-clés
 > MYOBASE > SANTE > médecine > maladie > maladie par appareil > maladie de l'appareil locomoteur > maladie neuromusculaire > maladie neuromusculaire par protéine > IGHMBP2 (maladie neuromusculaire liée à) > amyotrophie spinale avec détresse respiratoire type 1
amyotrophie spinale avec détresse respiratoire type 1
Commentaire :
ORPHA 98920
MIM 604320 - Transmission autosomique récessive. - Anomalie du gène IGHMPB2, localisé sur le chromosome 11 (région 11q13.2-13.4) et codant la protéine IGHMBP2, protéine de liaison des immunoglobulines mu. Sources : ORPHANET, OMIM Principales maladies neuromusculaires, Fiche Technique Savoir et Comprendre, AFM , septembre 2012, 6ème édition Avancées médico-scientifiques neuromusculaires, Fiche Technique Savoir et Comprendre, AFM, octobre 2012, 5ème édition Synonyme(s)amyotrophie spinale distale, forme infantile avec paralysie diaphragmatique et détresse respiratoire ;dHMN6 ;dHMNVI ;diaphragmatic spinal muscular atrophy ;distal hereditary motor neuropathy type 1 ;distal hereditary motor neuronopathy type I ;neuropathie motrice héréditaire distale de type 1 ;OMIM : 604320 ;SEVERE INFANTILE AXONAL NEUROPATHY WITH RESPIRATORY FAILURE ;SIANRF ;spinal muscular atrophy with respiratory distress ;SPINAL MUSCULAR ATROPHY WITH RESPIRATORY DISTRESS 1 ;HMN6 ;neuronopathie motrice héréditaire distale de type VI ;distal spinal muscular atrophy type 6 ;ORPHA 98920 ;SPINAL MUSCULAR ATROPHY, DISTAL, AUTOSOMAL RECESSIVE, 1 ;DSMA1 ;SMARD1 ;NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VI ;HMN VI ;NEURONOPATHY, SEVERE INFANTILE AXONAL, WITH RESPIRATORY FAILURE SPINAL MUSCULAR ATROPHY, DIAPHRAGMATICVoir aussi |
trié(s) par (Pertinence décroissant(e), Date de parution décroissant(e), Date de parution décroissant(e), Système de projection du document croissant(e)) | Mettre toutes les notices dans le panier | Faire une suggestion | Ajouter un critère de rechercheEtendre la recherche sur niveau(x) vers le bas
Spinal muscular atrophy with respiratory distress type 1: Clinical phenotypes, molecular pathogenesis and therapeutic insights
Saladini M, Nizzardo M, Govoni A, et al.
Journal of cellular and molecular medicine, 2019
CSF transplantation of a specific iPSC-derived neural stem cell subpopulation ameliorates the disease phenotype in a mouse model of spinal muscular atrophy with respiratory distress type 1
Forotti G, Nizzardo M, Bucchia M, et al.
Experimental neurology, 2019, 321
Development of a novel severe mouse model of spinal muscular atrophy with respiratory distress type 1: FVB-nmd
Shababi M, Smith CE, Kacher M, et al.
Biochemical and biophysical research communications, 2019
A propos d’une cohorte française de patients atteints d’une forme très rare d’amyotrophie spinale (SMARD1)
Urtizberea JA
2019
Clinical diversity caused by novel IGHMBP2 variants
Yuan JH, Hashiguchi A, Yoshimura A, et al.
Journal of human genetics, 2017, 62, 6, p 599
Rescue of a Mouse Model of Spinal Muscular Atrophy With Respiratory Distress Type 1 by AAV9-IGHMBP2 Is Dose Dependent
Shababi M, Feng Z, Villalon E, et al.
Molecular therapy : the journal of the American Society of Gene Therapy, 2016, 24, 5, p 855
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, et al.
Brain & development, 2016, 38, 7, p 685
Spinal muscular atrophy with respiratory distress syndrome (SMARD1): Case report and review of literature
Lingappa L, Shah N, Motepalli AS, et al.
Annals of Indian academy of neurology, 2016, 19, 3, p 395
Growing up with spinal muscular atrophy with respiratory distress (SMARD1)
Hamilton MJ, Longman C, O'Hara A, et al.
Neuromuscular disorders : NMD, 2015, 25, 2, p 169
Clinical and molecular features and therapeutic perspectives of spinal muscular atrophy with respiratory distress type 1
Vanoli F, Rinchetti P, Porro F, et al.
Journal of cellular and molecular medicine, 2015, 19, 9, p 2058
Gene therapy rescues disease phenotype in a spinal muscular atrophy with respiratory distress type 1 (SMARD1) mouse model
Nizzardo M, Simone C, Rizzo F, et al.
Science advance, 2015, 1, 2
Recessive REEP1 mutation is associated with congenital axonal neuropathy and diaphragmatic palsy
Schottmann G, Seelow D, Seifert F, et al.
Neurology. Genetics, 2015, 1, 4
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, et al.
Journal of child neurology, 2014, 29, 6, p. 799-802
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, et al.
Brain, 2014, 137, 5, p 1374
iPSC-Derived Neural Stem Cells Act via Kinase Inhibition to Exert Neuroprotective Effects in Spinal Muscular Atrophy with Respiratory Distress Type 1
Simone C, Nizzardo M, Rizzo F, et al.
Stem cell reports, 2014, 3, 2, p 297
Fast motor axon loss in SMARD1 does not correspond to morphological and functional alterations of the NMJ
Krieger F, Elflein N, Ruiz R, et al.
Neurobiology of disease, 2013, 54, p. 169-182
190th ENMC international workshop: Spinal muscular atrophy with respiratory distress/distal spinal muscular atrophy type 1 : 11-13 May 2012 Naarden, The Netherlands
van der Pol WL, Talim B, Pitt B, et al.
Neuromuscular disorders : NMD, 2013, 23, 7, p 602
The distal hereditary motor neuropathies
Rossor AM, Kalmar B, Greensmith L, et al.
Journal of neurology, neurosurgery and psychiatry, 2012, 83, 1, p. 6-14
Hereditary peripheral neuropathies of childhood : a brief overview for clinicians
Wilmshurst JM, Ouvrier R
Neuromuscular disorders : NMD, 2011, 21, 11, p. 763-775
Infantile spinal muscular atrophy with respiratory distress type 1: a case report
AlSaman A, Tomoum H
Journal of child neurology, 2010, 25, 6, p. 764-769
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, et al.
Journal of molecular medicine, 2009, 87, 1, p. 31-41
L'amyotrophie spinale distale de type 1 (DSMA1 ou SMARD1)
Kaindl AM, Guenther UP, Rudnik-Schöneborn S, et al.
Archives de pédiatrie, 2008, 15, 10, p. 1568-1572
