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Human molecular genetics

Documents disponibles dans cette revue (742)

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Human molecular genetics, 29, 22. Mitochondria-lysosome membrane contacts are defective in GDAP1-related Charcot-Marie-Tooth disease

Cantarero L ; Juárez-Escoto E ; Civera-Tregon A ; Rodríguez-Sanz M ; Roldán M ; Benítez R ; Hoenicka J ; Palau F | England | 21/01/2021

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Human molecular genetics Ryanodine receptor remodeling in cardiomyopathy and muscular dystrophy caused by lamin A/C gene mutation

Dridi H ; Wu W ; Reiken SR ; Ofer RM ; Liu Y ; Yuan Q ; Sittenfeld L ; Kushner J ; Muchir A ; Worman HJ ; Marks AR | England | 04/01/2021

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Human molecular genetics SPEG binds with desmin and its deficiency causes defects in triad and focal adhesion proteins

Luo S ; Li Q ; Lin J ; Murphy Q ; Marty I ; Zhang Y ; Kazerounian S ; Agrawal PB | England | 23/12/2020

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Human molecular genetics 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 ; De Vlaeminck Y ; Allemeersch J ; Dziedzicka D ; Spits C ; Vanroye F ; Hilven P ; Duqué G ; Vermeesch JR ; Gheldof A ; Sermon K | England | 26/11/2020

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Human molecular genetics Intragenic complementation of amino and carboxy terminal SMN missense mutations can rescue Smn null mice

McGovern VL ; Kray KM ; Arnold WD ; Duque SI ; Iyer CC ; Massoni-Laporte A ; Workman E ; Patel A ; Battle DJ ; Burghes AHM | England | 21/10/2020

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Human molecular genetics Conditional deletion of SMN in cell culture identifies functional SMN alleles

Blatnik AJ ; McGovern VL ; Le TT ; Iyer CC ; Kaspar BK ; Burghes AHM | England | 19/10/2020

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Human molecular genetics, 29, 10. Increased nuclear but not cytoplasmic activities of CELF1 protein leads to muscle wasting

Cox DC ; Guan X ; Xia Z ; Cooper TA | 06/2020

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Human molecular genetics Effect of salbutamol on neuromuscular junction function and structure in a mouse model of DOK7 congenital myasthenia

Webster RG ; Vanhaesebrouck AE ; Maxwell SE ; Cossins JA ; Liu W ; Ueta R ; Yamanashi Y ; Beeson DMW | England | 06/2020

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Human molecular genetics Serum biomarkers associated with baseline clinical severity in young steroid-naive Duchenne muscular dystrophy boys

Dang UJ ; Ziemba M ; Clemens PR ; Hathout Y ; Conklin LS ; Hoffman EP | England | 06/2020

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Human molecular genetics 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 ; Conner BW ; Oliveira-Santos A ; Grange RW ; Burkin DJ | England | 05/2020

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Human molecular genetics Pmp22 Super-enhancer Deletion Causes Tomacula Formation and Conduction Block in Peripheral Nerves

Pantera H, Auteur ; Hu B ; Moiseev D ; Dunham C ; Rashid J ; Moran JJ ; Krentz K ; Rubinstein CD ; Won S ; Li J ; Svaren J | England | 04/2020

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Human molecular genetics 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, Auteur ; Yu Q ; Mandal M ; Rigo F ; Bennett CF ; Mahadevan MS | England | 04/2020

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Human molecular genetics, 29, 13. PAX7 target gene repression associates with FSHD progression and pathology over one year

Banerji CRS | England | 2020

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Human molecular genetics, 29, 16. Skeletal muscle regeneration in facioscapulohumeral muscular dystrophy is correlated with pathological severity

Banerji CRS ; Henderson D ; Tawil RN ; Zammit PS | England | 2020

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Human molecular genetics Altered bone development with impaired cartilage formation precedes neuromuscular symptoms in Spinal Muscular Atrophy (SMA)

Hensel N ; Brickwedde H ; Tsaknakis K ; Grages A ; Braunschweig L ; Luders KA ; Lorenz HM ; Lippross S ; Walter LM ; Tavassol F ; Lienenklaus S ; Neunaber C ; Claus P ; Hell AK | England | 2020

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Human molecular genetics DMD carrier model with mosaic dystrophin expression in the heart reveals complex vulnerability to myocardial injury

Meyers TA ; Heitzman JA ; Townsend D | England | 01/2020

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Human molecular genetics 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 ; Vindas-Smith R ; Santamaria-Ulloa C ; Zhang B ; Sirito M ; Estecio MR ; Krahe R ; Monckton DG | England | 2020

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Human molecular genetics 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 ; Vindas-Smith R ; Santamaria-Ulloa C ; Zhang B ; Sirito M ; Estecio MR ; Krahe R ; Monckton DG | England | 2020

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Human molecular genetics Longitudinal metabolomic analysis of plasma enables modeling disease progression in Duchenne muscular dystrophy mouse models

Tsonaka R ; Signorelli M ; Sabir E ; Seyer A ; Hettne K ; Aartsma-Rus A ; Spitali P | England | 01/2020

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Human molecular genetics Pre-natal manifestation of systemic developmental abnormalities in spinal muscular atrophy

Motyl AAL ; Faller KME ; Groen EJN ; Kline RA ; Eaton SL ; Ledahawsky LM ; Chaytow H ; Lamont DJ ; Wishart TM ; Huang YT ; Gillingwater TH | England | 2020

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Human molecular genetics Insights into wild type dynamin 2 and the consequences of DNM2 mutations from transgenic zebrafish

Zhao M, Auteur ; Smith L ; Volpatti J ; Fabian L ; Dowling JJ | England | 11/2019

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Human molecular genetics Different in vivo impact of Dynamin 2 mutations implicated in Charcot-Marie-Tooth neuropathy or Centronuclear Myopathy

Munoz XM, Auteur ; Buono S ; Koebel P ; Laporte J ; Cowling BS | England | 10/2019

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Human molecular genetics DUX4-induced bidirectional HSATII satellite repeat transcripts form intranuclear double stranded RNA foci in human cell models of FSHD

Shadle SC, Auteur ; Bennett SR ; Wong CJ ; Karreman NA ; Campbell AE ; van der Maarel SM ; Bass BL ; Tapscott SJ | England | 10/2019

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Human molecular genetics Systemic AAV8-mediated delivery of a functional copy of muscle glycogen phosphorylase (Pygm) ameliorates disease in a murine model of McArdle disease

McNamara EL, Auteur ; Taylor RL ; Clayton JS ; Goullee H ; Dilworth KL ; Pinos T ; Brull A ; Alexander IE ; Lisowski L ; Ravenscroft G ; Laing NG ; Nowak KJ | England | 09/2019

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Human molecular genetics Using human Pompe disease-induced pluripotent stem cell-derived neural cells to identify compounds with therapeutic potential

Huang HP, Auteur ; Chiang W ; Stone L ; Kang CK ; Chuang CY ; Kuo HC | England | 09/2019

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Détail de la revue

Human molecular genetics

Documents disponibles dans cette revue (742)

Human molecular genetics, 29, 22. Mitochondria-lysosome membrane contacts are defective in GDAP1-related Charcot-Marie-Tooth disease

Human molecular genetics Ryanodine receptor remodeling in cardiomyopathy and muscular dystrophy caused by lamin A/C gene mutation

Human molecular genetics SPEG binds with desmin and its deficiency causes defects in triad and focal adhesion proteins

Human molecular genetics MSH2 knock-down shows CTG repeat stability and concomitant upstream demethylation at the DMPK locus in myotonic dystrophy type 1 human embryonic stem cells

Human molecular genetics Intragenic complementation of amino and carboxy terminal SMN missense mutations can rescue Smn null mice

Human molecular genetics Conditional deletion of SMN in cell culture identifies functional SMN alleles

Human molecular genetics, 29, 10. Increased nuclear but not cytoplasmic activities of CELF1 protein leads to muscle wasting

Human molecular genetics Effect of salbutamol on neuromuscular junction function and structure in a mouse model of DOK7 congenital myasthenia

Human molecular genetics Serum biomarkers associated with baseline clinical severity in young steroid-naive Duchenne muscular dystrophy boys

Human molecular genetics Laminin-111 protein therapy after disease onset slows muscle disease in a mouse model of Laminin alpha2 related congenital muscular dystrophy

Human molecular genetics Pmp22 Super-enhancer Deletion Causes Tomacula Formation and Conduction Block in Peripheral Nerves

Human molecular genetics Systemic Therapy in a RNA Toxicity Mouse Model with an Antisense Oligonucleotide Therapy Targeting a non-CUG sequence within the DMPK 3'UTR RNA

Human molecular genetics, 29, 13. PAX7 target gene repression associates with FSHD progression and pathology over one year

Human molecular genetics, 29, 16. Skeletal muscle regeneration in facioscapulohumeral muscular dystrophy is correlated with pathological severity

Human molecular genetics Altered bone development with impaired cartilage formation precedes neuromuscular symptoms in Spinal Muscular Atrophy (SMA)

Human molecular genetics DMD carrier model with mosaic dystrophin expression in the heart reveals complex vulnerability to myocardial injury

Human molecular genetics Longitudinal increases in somatic mosaicism of the expanded CTG repeat in myotonic dystrophy type 1 are associated with variation in age-at-onset

Human molecular genetics Longitudinal increases in somatic mosaicism of the expanded CTG repeat in myotonic dystrophy type 1 are associated with variation in age-at-onset

Human molecular genetics Longitudinal metabolomic analysis of plasma enables modeling disease progression in Duchenne muscular dystrophy mouse models

Human molecular genetics Pre-natal manifestation of systemic developmental abnormalities in spinal muscular atrophy

Human molecular genetics Insights into wild type dynamin 2 and the consequences of DNM2 mutations from transgenic zebrafish

Human molecular genetics Different in vivo impact of Dynamin 2 mutations implicated in Charcot-Marie-Tooth neuropathy or Centronuclear Myopathy

Human molecular genetics DUX4-induced bidirectional HSATII satellite repeat transcripts form intranuclear double stranded RNA foci in human cell models of FSHD

Human molecular genetics Systemic AAV8-mediated delivery of a functional copy of muscle glycogen phosphorylase (Pygm) ameliorates disease in a murine model of McArdle disease

Human molecular genetics Using human Pompe disease-induced pluripotent stem cell-derived neural cells to identify compounds with therapeutic potential