Lista de obras -

A Cross-Sectional Study of Nemaline Myopathy

artículo científico publicado en 2021

A form of muscular dystrophy associated with pathogenic variants in JAG2

artículo científico publicado en 2021

A long-read RNA-seq approach to identify novel transcripts of very large genes

scientific article published on 06 July 2020

Adult MTM1-related myopathy carriers: Classification based on deep phenotyping

artículo científico publicado en 2019

An ultrafast system for signaling mechanical pain in human skin

scientific article published on 03 July 2019

Centronuclear myopathy due to a de novo dominant mutation in the skeletal muscle ryanodine receptor (RYR1) gene

article

Desmin-related myopathy with Mallory body-like inclusions is caused by mutations of the selenoprotein N gene.

artículo científico publicado en 2004

Early and lethal neurodegeneration with myasthenic and myopathic features: A new ALG14-CDG.

artículo científico publicado en 2017

Expanding Phenotype of De Novo Mutations in GNAO1: Four New Cases and Review of Literature

artículo científico publicado en 2017

Genetic regulatory variation in populations informs transcriptome analysis in rare disease

artículo científico publicado en 2019

Improving genetic diagnosis in Mendelian disease with transcriptome sequencing

artículo científico publicado en 2017

Longitudinal changes in clinical outcome measures in COL6-related dystrophies and LAMA2-related dystrophies

scientific article published on 25 October 2019

Mutations of the selenoprotein N gene, which is implicated in rigid spine muscular dystrophy, cause the classical phenotype of multiminicore disease: reassessing the nosology of early-onset myopathies

artículo científico publicado en 2002

PIEZO2 and perineal mechanosensation are essential for sexual function

artículo científico publicado en 2023

PIEZO2 mediates injury-induced tactile pain in mice and humans

article

Randomized controlled trial of N-acetylcysteine therapy for RYR1-related myopathies

scientific article published on 15 January 2020

The clinical, histological, and genotypic spectrum of SEPN1-related myopathy: A case series

scientific article published on 13 August 2020

The roles of dystroglycan in the nervous system: insights from animal models of muscular dystrophy

artículo científico publicado en 2018

p.S143F mutation in lamin A/C: a new phenotype combining myopathy and progeria

artículo científico publicado en 2005

Lista de obras de

A Cross-Sectional Study of Nemaline Myopathy

A form of muscular dystrophy associated with pathogenic variants in JAG2

A long-read RNA-seq approach to identify novel transcripts of very large genes

Adult MTM1-related myopathy carriers: Classification based on deep phenotyping

An ultrafast system for signaling mechanical pain in human skin

Centronuclear myopathy due to a de novo dominant mutation in the skeletal muscle ryanodine receptor (RYR1) gene

Desmin-related myopathy with Mallory body-like inclusions is caused by mutations of the selenoprotein N gene.

Early and lethal neurodegeneration with myasthenic and myopathic features: A new ALG14-CDG.

Expanding Phenotype of De Novo Mutations in GNAO1: Four New Cases and Review of Literature

Genetic regulatory variation in populations informs transcriptome analysis in rare disease

Improving genetic diagnosis in Mendelian disease with transcriptome sequencing

Longitudinal changes in clinical outcome measures in COL6-related dystrophies and LAMA2-related dystrophies

Mutations of the selenoprotein N gene, which is implicated in rigid spine muscular dystrophy, cause the classical phenotype of multiminicore disease: reassessing the nosology of early-onset myopathies

PIEZO2 and perineal mechanosensation are essential for sexual function

PIEZO2 mediates injury-induced tactile pain in mice and humans

Randomized controlled trial of N-acetylcysteine therapy for RYR1-related myopathies

The clinical, histological, and genotypic spectrum of SEPN1-related myopathy: A case series

The roles of dystroglycan in the nervous system: insights from animal models of muscular dystrophy

p.S143F mutation in lamin A/C: a new phenotype combining myopathy and progeria