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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
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
Conditional deletion of SMN in cell culture identifies functional SMN alleles
Blatnik AJ, McGovern VL, Le TT, et al.
Human molecular genetics, 2020
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
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
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
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
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
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
PAX7 target gene repression associates with FSHD progression and pathology over one year
Banerji CRS
Human molecular genetics, 2020, 29, 13, p 2124
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
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
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
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
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
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
Pre-natal manifestation of systemic developmental abnormalities in spinal muscular atrophy
Motyl AAL, Faller KME, Groen EJN, et al.
Human molecular genetics, 2020
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
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
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
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
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
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
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
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
