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Human molecular genetics

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Human molecular genetics 5-aza-2-deoxycytidine improves skeletal muscle function in a mouse model for recessive RYR1-related congenital myopathy

Ruiz A ; Noreen F ; Meier H ; Buczak K ; Zorzato F ; Treves S | 13/02/2025

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Human molecular genetics The role of CNBP in brain atrophy and its targeting in myotonic dystrophy type 2

Jennings K ; Lindquist D ; Poonia A ; Schoser B ; Schneider-Gold C ; Timchenko NA ; Timchenko L | 14/01/2025

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Human molecular genetics, Epub. Identification of ZNF850 as a novel CTG repeat expansion-related gene in myotonic dystrophy type 1 patient-derived iPSCs

Kamon M ; Wakatsuki S ; Nakamori M ; Takahashi MP ; Mori-Yoshimura M ; Komaki H ; Araki T | 16/12/2024

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Human molecular genetics Clinically relevant mouse models of severe spinal muscular atrophy with respiratory distress type 1

Holbrook SE ; Hicks AN ; Martin PB ; Hines TJ ; Castro HP ; Cox GA | 12/08/2024

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Human molecular genetics, Epub. Mitochondrial abnormalities contribute to muscle weakness in a Dnajb6 deficient zebrafish model

McKaige EA ; Lee C ; Calcinotto V ; Giri S ; Crawford S ; McGrath MJ ; Ramm G ; Bryson-Richardson RJ | 15/04/2024

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Human molecular genetics Real-world evidence: Risdiplam in a patient with spinal muscular atrophy type I with a novel splicing mutation and one SMN2 copy

Ma K ; Zhang K ; Chen D ; Wang C ; Abdalla M ; Zhang H ; Tian R ; Liu Y ; Song L ; Zhang X ; Liu F ; Liu G ; Wang D | 23/03/2024

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Human molecular genetics, Epub. Muscle eosinophilia is a hallmark of chronic disease in facioscapulohumeral muscular dystrophy

Nunes AM ; Ramirez MM ; Garcia-Collazo E ; Jones TI ; Jones PL | 10/02/2024

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Human molecular genetics, Epub. Regional and bilateral MRI and gene signatures in facioscapulohumeral dystrophy: implications for clinical trial design and mechanisms of disease progression

Wong CJ ; Friedman SD ; Snider L ; Bennett SR ; Jones TI ; Jones PL ; Shaw DWW ; Blemker SS ; Riem L ; DuCharme O ; Lemmers RJFL ; van der Maarel SM ; Wang LH ; Tawil R ; Statland JM ; Tapscott SJ | 24/01/2024

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Human molecular genetics Long term peripheral AAV9-SMN gene therapy promotes survival in a mouse model of spinal muscular atrophy

Reilly A ; Yaworski R ; Beauvais A ; Schneider BL ; Kothary R | 09/12/2023

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Human molecular genetics, Epub. A transcriptomics-based drug repositioning approach to identify drugs with similar activities for the treatment of muscle pathologies in spinal muscular atrophy (SMA) models

Hoolachan JM ; McCallion E ; Sutton ER ; Çetin Ö ; Pacheco-Torres P ; Dimitriadi M ; Sari S ; Miller GJ ; Okoh M ; Walter LM ; Claus P ; Wood MJA ; Tonge DP ; Bowerman M | 08/11/2023

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Human molecular genetics, Epub. Two zebrafish cacna1s loss-of-function variants provide models of mild and severe CACNA1S-related myopathy

Endo Y ; Groom L ; Wang SM ; Pannia E ; Griffiths NW ; Van Gennip JLM ; Ciruna B ; Laporte J ; Dirksen RT ; Dowling JJ | 31/10/2023

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Human molecular genetics Morphological and functional alterations of neuromuscular synapses in a mouse model of ACTA1 congenital myopathy

Liu Y ; Lin W | 26/10/2023

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Human molecular genetics, Epub. Comparison of pharmaceutical properties and biological activity of prednisolone, deflazacort, and vamorolone in DMD disease models

Liu G ; Lipari P ; Mollin A ; Jung S ; Teplova I ; Li W ; Ying L ; More V ; Lennox W ; Yeh S ; McGann E ; Moon YC ; Rice C ; Huarte E ; Gruszka B ; Ray B ; Goodwin E ; Buckendahl P ; Yurkow E ; Braughton B ; Narasimhan J ; Welch E ; Voronin G ; Weetall M | 11/10/2023

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Human molecular genetics, Epub. AAV9-mediated SMN gene therapy rescues cardiac desmin but not Lamin a/C and elastin dysregulation in Smn 2B/- spinal muscular atrophy mice

Brown SJ ; Soltic D ; Synowsky SA ; Shirran SL ; Chilcott E ; Shorrock HK ; Gillingwater TH ; Yanez-Munoz RJ ; Schneider B ; Bowerman M ; Fuller HR | 27/07/2023

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Human molecular genetics Myofibrillar myopathy hallmarks associated with ZAK deficiency

Stonadge A ; Genzor AV ; Russell A ; Hamed MF ; Romero NB ; Evans G ; Pownall ME ; Bekker-Jensen S ; Blanco G | 10/07/2023

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Human molecular genetics The clinical features and TCAP mutation Spectrum in a Chinese cohort of patients with limb-girdle muscular dystrophy R7

Lv X ; Lin F ; Wu W ; Wang H ; Luo Y ; Wang Z ; Yan C ; Lv H ; Luo S ; Lin P | 22/05/2023

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Human molecular genetics Potentiation of neuromuscular transmission by a small molecule calcium channel gating modifier improves motor function in a severe spinal muscular atrophy mouse model

Ojala KS ; Kaufhold CJ ; Davey MR ; Yang D ; Liang M ; Wipf P ; Badawi Y ; Meriney SD | England | 09/02/2023

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Article

Human molecular genetics NRAP reduction rescues sarcomere defects in nebulin-related nemaline myopathy

Casey JG ; Kim ES ; Joseph R ; Li F ; Granzier H ; Gupta VA | England | 20/01/2023

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Human molecular genetics Biochemical characterization of two novel mutations in the human high-affinity choline transporter 1 identified in a patient with congenital myasthenic syndrome

Rizvi M ; Truong TK ; Zhou J ; Batta M ; Moran ES ; Pappas J ; Chu ML ; Caluseriu O ; Evrony GD ; Leslie EM ; Cordat E | England | 05/01/2023

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Human molecular genetics Antisense oligonucleotide induced pseudoexon skipping and restoration of functional protein for Fukuyama muscular dystrophy caused by a deep-intronic variant

Enkhjargal S ; Sugahara K ; Khaledian B ; Nagasaka M ; Inagaki H ; Kurahashi H ; Koshimizu H ; Toda T ; Taniguchi-Ikeda M | England | 25/11/2022

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Human molecular genetics Metabolic, fibrotic, and splicing pathways are all altered in Emery-Dreifuss muscular dystrophy Spectrum patients to differing degrees

de Las Heras JI ; Todorow V ; Krečinić-Balić L ; Hintze S ; Czapiewski R ; Webb S ; Schoser B ; Meinke P ; Schirmer EC | England | 25/10/2022

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Human molecular genetics A splicing silencer in SMN2 intron 6 is critical in spinal muscular atrophy

Wang L ; Ji Y ; Chen Y ; Bai J ; Gao P ; Feng P | England | 18/10/2022

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Human molecular genetics Dynamics and variability of transcriptomic dysregulation in congenital myotonic dystrophy during pediatric development

Hale MA ; Bates K ; Provenzano M ; Johnson NE | England | 12/10/2022

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Article

Human molecular genetics Histidine supplementation can escalate or rescue HARS deficiency in a Charcot Marie Tooth Disease model

Qiu Y ; Kenana R ; Beharry A ; Wilhelm SDP ; Hsu SY ; Siu VM ; Duennwald M ; Heinemann IU | England | 26/09/2022

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Human molecular genetics Individual-specific levels of CTG•CAG somatic instability are shared across multiple tissues in myotonic dystrophy type 1

Morales F ; Corrales E ; Vasquez M ; Zhang B ; Fernandez H ; Alvarado F ; Cortés S ; Santamaria-Ulloa C ; Krahe R ; Monckton DG | England | 13/09/2022

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Détail de la revue

Human molecular genetics

Documents disponibles dans cette revue (796)

Human molecular genetics 5-aza-2-deoxycytidine improves skeletal muscle function in a mouse model for recessive RYR1-related congenital myopathy

Human molecular genetics The role of CNBP in brain atrophy and its targeting in myotonic dystrophy type 2

Human molecular genetics, Epub. Identification of ZNF850 as a novel CTG repeat expansion-related gene in myotonic dystrophy type 1 patient-derived iPSCs

Human molecular genetics Clinically relevant mouse models of severe spinal muscular atrophy with respiratory distress type 1

Human molecular genetics, Epub. Mitochondrial abnormalities contribute to muscle weakness in a Dnajb6 deficient zebrafish model

Human molecular genetics Real-world evidence: Risdiplam in a patient with spinal muscular atrophy type I with a novel splicing mutation and one SMN2 copy

Human molecular genetics, Epub. Muscle eosinophilia is a hallmark of chronic disease in facioscapulohumeral muscular dystrophy

Human molecular genetics, Epub. Regional and bilateral MRI and gene signatures in facioscapulohumeral dystrophy: implications for clinical trial design and mechanisms of disease progression

Human molecular genetics Long term peripheral AAV9-SMN gene therapy promotes survival in a mouse model of spinal muscular atrophy

Human molecular genetics, Epub. A transcriptomics-based drug repositioning approach to identify drugs with similar activities for the treatment of muscle pathologies in spinal muscular atrophy (SMA) models

Human molecular genetics, Epub. Two zebrafish cacna1s loss-of-function variants provide models of mild and severe CACNA1S-related myopathy

Human molecular genetics Morphological and functional alterations of neuromuscular synapses in a mouse model of ACTA1 congenital myopathy

Human molecular genetics, Epub. Comparison of pharmaceutical properties and biological activity of prednisolone, deflazacort, and vamorolone in DMD disease models

Human molecular genetics, Epub. AAV9-mediated SMN gene therapy rescues cardiac desmin but not Lamin a/C and elastin dysregulation in Smn 2B/- spinal muscular atrophy mice

Human molecular genetics Myofibrillar myopathy hallmarks associated with ZAK deficiency

Human molecular genetics The clinical features and TCAP mutation Spectrum in a Chinese cohort of patients with limb-girdle muscular dystrophy R7

Human molecular genetics Potentiation of neuromuscular transmission by a small molecule calcium channel gating modifier improves motor function in a severe spinal muscular atrophy mouse model

Human molecular genetics NRAP reduction rescues sarcomere defects in nebulin-related nemaline myopathy

Human molecular genetics Biochemical characterization of two novel mutations in the human high-affinity choline transporter 1 identified in a patient with congenital myasthenic syndrome

Human molecular genetics Antisense oligonucleotide induced pseudoexon skipping and restoration of functional protein for Fukuyama muscular dystrophy caused by a deep-intronic variant

Human molecular genetics Metabolic, fibrotic, and splicing pathways are all altered in Emery-Dreifuss muscular dystrophy Spectrum patients to differing degrees

Human molecular genetics A splicing silencer in SMN2 intron 6 is critical in spinal muscular atrophy

Human molecular genetics Dynamics and variability of transcriptomic dysregulation in congenital myotonic dystrophy during pediatric development

Human molecular genetics Histidine supplementation can escalate or rescue HARS deficiency in a Charcot Marie Tooth Disease model

Human molecular genetics Individual-specific levels of CTG•CAG somatic instability are shared across multiple tissues in myotonic dystrophy type 1