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Human molecular genetics |
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MSH2 knock-down shows CTG repeat stability and concomitant upstream demethylation at the DMPK locus in myotonic dystrophy type 1 human embryonic stem cells
Franck S, Barbé L, Ardui S, et al.
Human molecular genetics, 2020
Revue : Human molecular genetics Titre : MSH2 knock-down shows CTG repeat stability and concomitant upstream demethylation at the DMPK locus in myotonic dystrophy type 1 human embryonic stem cells Type de document : Article Auteurs : Franck S ; Barbé L ; Ardui S ; De Vlaeminck Y ; Allemeersch J ; Dziedzicka D ; Spits C ; Vanroye F ; Hilven P ; Duqué G ; Vermeesch JR ; Gheldof A ; Sermon K Editeur : England Année de publication : 26/11/2020 Langues : Anglais (eng) Pubmed / DOI : Pubmed : 33242073 / DOI : 10.1093/hmg/ddaa250
N° Profil MNM : 2020121 En ligne : http://www.ncbi.nlm.nih.gov/pubmed/33242073 Avis des lecteurs Aucun avis, ajoutez le vôtre !
(mauvais) 15 (excellent)
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Intragenic complementation of amino and carboxy terminal SMN missense mutations can rescue Smn null mice
McGovern VL, Kray KM, Arnold WD, et al.
Human molecular genetics, 2020
Revue : Human molecular genetics Titre : Intragenic complementation of amino and carboxy terminal SMN missense mutations can rescue Smn null mice Type de document : Article Auteurs : McGovern VL ; Kray KM ; Arnold WD ; Duque SI ; Iyer CC ; Massoni-Laporte A ; Workman E ; Patel A ; Battle DJ ; Burghes AHM Editeur : England Année de publication : 21/10/2020 Langues : Anglais (eng) Pubmed / DOI : Pubmed : 33084884 / DOI : 10.1093/hmg/ddaa235
N° Profil MNM : 2020102 En ligne : http://www.ncbi.nlm.nih.gov/pubmed/33084884 Avis des lecteurs Aucun avis, ajoutez le vôtre !
(mauvais) 15 (excellent)
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Conditional deletion of SMN in cell culture identifies functional SMN alleles
Blatnik AJ, McGovern VL, Le TT, et al.
Human molecular genetics, 2020
Revue : Human molecular genetics Titre : Conditional deletion of SMN in cell culture identifies functional SMN alleles Type de document : Article Auteurs : Blatnik AJ ; McGovern VL ; Le TT ; Iyer CC ; Kaspar BK ; Burghes AHM Editeur : England Année de publication : 19/10/2020 Langues : Anglais (eng) Pubmed / DOI : Pubmed : 33075805 / DOI : 10.1093/hmg/ddaa229
N° Profil MNM : 2020102 En ligne : http://www.ncbi.nlm.nih.gov/pubmed/33075805 Avis des lecteurs Aucun avis, ajoutez le vôtre !
(mauvais) 15 (excellent)
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Increased nuclear but not cytoplasmic activities of CELF1 protein leads to muscle wasting
Cox DC, Guan X, Xia Z, et al.
Human molecular genetics, 2020, 29, 10, p 1729
Revue : Human molecular genetics, 29, 10 Titre : Increased nuclear but not cytoplasmic activities of CELF1 protein leads to muscle wasting Type de document : Article Auteurs : Cox DC ; Guan X ; Xia Z ; Cooper TA Année de publication : 06/2020 Pages : p 1729 Langues : Anglais (eng) Pubmed / DOI : Pubmed : 32412585 / Pubmed : 10.1093/hmg/ddaa095
N° Profil MNM : 2020052 En ligne : http://www.ncbi.nlm.nih.gov/pubmed/32412585 Avis des lecteurs Aucun avis, ajoutez le vôtre !
(mauvais) 15 (excellent)
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Effect of salbutamol on neuromuscular junction function and structure in a mouse model of DOK7 congenital myasthenia
Webster RG, Vanhaesebrouck AE, Maxwell SE, et al.
Human molecular genetics, 2020
Revue : Human molecular genetics Titre : Effect of salbutamol on neuromuscular junction function and structure in a mouse model of DOK7 congenital myasthenia Type de document : Article Auteurs : Webster RG ; Vanhaesebrouck AE ; Maxwell SE ; Cossins JA ; Liu W ; Ueta R ; Yamanashi Y ; Beeson DMW Editeur : England Année de publication : 06/2020 Langues : Anglais (eng) Pubmed / DOI : Pubmed : 32543656 / DOI : 10.1093/hmg/ddaa116
N° Profil MNM : 2020061 En ligne : http://www.ncbi.nlm.nih.gov/pubmed/32543656 Avis des lecteurs Aucun avis, ajoutez le vôtre !
(mauvais) 15 (excellent)
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Serum biomarkers associated with baseline clinical severity in young steroid-naive Duchenne muscular dystrophy boys
Dang UJ, Ziemba M, Clemens PR, et al.
Human molecular genetics, 2020
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Laminin-111 protein therapy after disease onset slows muscle disease in a mouse model of Laminin alpha2 related congenital muscular dystrophy
Barraza-Flores P, Bukovec KE, Dagda M, et al.
Human molecular genetics, 2020
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Pmp22 Super-enhancer Deletion Causes Tomacula Formation and Conduction Block in Peripheral Nerves
Pantera H, Hu B, Moiseev D, et al.
Human molecular genetics, 2020
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Systemic Therapy in a RNA Toxicity Mouse Model with an Antisense Oligonucleotide Therapy Targeting a non-CUG sequence within the DMPK 3'UTR RNA
Yadava RS, Yu Q, Mandal M, et al.
Human molecular genetics, 2020
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PAX7 target gene repression associates with FSHD progression and pathology over one year
Banerji CRS
Human molecular genetics, 2020, 29, 13, p 2124
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Skeletal muscle regeneration in facioscapulohumeral muscular dystrophy is correlated with pathological severity
Banerji CRS, Henderson D, Tawil RN, et al.
Human molecular genetics, 2020, 29, 16, p 2746
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Altered bone development with impaired cartilage formation precedes neuromuscular symptoms in Spinal Muscular Atrophy (SMA)
Hensel N, Brickwedde H, Tsaknakis K, et al.
Human molecular genetics, 2020
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DMD carrier model with mosaic dystrophin expression in the heart reveals complex vulnerability to myocardial injury
Meyers TA, Heitzman JA, Townsend D
Human molecular genetics, 2020
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Longitudinal increases in somatic mosaicism of the expanded CTG repeat in myotonic dystrophy type 1 are associated with variation in age-at-onset
Morales F, Vásquez M, Corrales E, et al.
Human molecular genetics, 2020
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Longitudinal increases in somatic mosaicism of the expanded CTG repeat in myotonic dystrophy type 1 are associated with variation in age-at-onset
Morales F, Vásquez M, Corrales E, et al.
Human molecular genetics, 2020
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Longitudinal metabolomic analysis of plasma enables modeling disease progression in Duchenne muscular dystrophy mouse models
Tsonaka R, Signorelli M, Sabir E, et al.
Human molecular genetics, 2020
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Pre-natal manifestation of systemic developmental abnormalities in spinal muscular atrophy
Motyl AAL, Faller KME, Groen EJN, et al.
Human molecular genetics, 2020
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Insights into wild type dynamin 2 and the consequences of DNM2 mutations from transgenic zebrafish
Zhao M, Smith L, Volpatti J, et al.
Human molecular genetics, 2019
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Different in vivo impact of Dynamin 2 mutations implicated in Charcot-Marie-Tooth neuropathy or Centronuclear Myopathy
Munoz XM, Buono S, Koebel P, et al.
Human molecular genetics, 2019
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DUX4-induced bidirectional HSATII satellite repeat transcripts form intranuclear double stranded RNA foci in human cell models of FSHD
Shadle SC, Bennett SR, Wong CJ, et al.
Human molecular genetics, 2019
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Systemic AAV8-mediated delivery of a functional copy of muscle glycogen phosphorylase (Pygm) ameliorates disease in a murine model of McArdle disease
McNamara EL, Taylor RL, Clayton JS, et al.
Human molecular genetics, 2019
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Using human Pompe disease-induced pluripotent stem cell-derived neural cells to identify compounds with therapeutic potential
Huang HP, Chiang W, Stone L, et al.
Human molecular genetics, 2019
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Gene replacement therapy after neuropathy onset provides therapeutic benefit in a model of CMT1X.
Kagiava A, Richter J, Tryfonos C, et al.
Human molecular genetics, 2019
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Loss of Cajal bodies in motor neurons from patients with novel mutations in VRK1
El-Bazzal L, Rihan K, Bernard-Marissal N, et al.
Human molecular genetics, 2019, 28, 14, p 2378
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The potential of utrophin and dystrophin combination therapies for Duchenne muscular dystrophy
Guiraud S, Edwards B, Babbs A, et al.
Human molecular genetics, 2019, 28, 13, p 2189
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