Lista de obras -

A defect in myoblast fusion underlies Carey-Fineman-Ziter syndrome.

artículo científico publicado en 2017

A form of muscular dystrophy associated with pathogenic variants in JAG2

artículo científico publicado en 2021

Anterior spinal artery syndrome presenting as cervical myelopathy in a patient with subclavian steal syndrome.

artículo científico publicado en 2013

Anti-3-hydroxy-3-methylglutaryl-coenzyme a reductase necrotizing myopathy masquerading as a muscular dystrophy in a child.

artículo científico publicado en 2017

Anti-HMGCR Myopathy

artículo científico publicado en 2018

Anti-HMGCR myopathy may resemble limb-girdle muscular dystrophy

artículo científico publicado en 2018

Common and variable clinical, histological, and imaging findings of recessive RYR1-related centronuclear myopathy patients.

artículo científico publicado en 2017

Congenital titinopathy: Comprehensive characterisation and pathogenic insights

artículo científico publicado en 2018

Cytoplasmic body pathology in severe ACTA1-related myopathy in the absence of typical nemaline rods.

artículo científico publicado en 2017

De novo missense variants in HECW2 are associated with neurodevelopmental delay and hypotonia

artículo científico publicado en 2016

Development of a subset of forelimb muscles and their attachment sites requires the ulnar-mammary syndrome gene Tbx3.

scientific article published on 04 August 2016

Dominant collagen XII mutations cause a distal myopathy

artículo científico publicado en 2019

Expression of the dermatomyositis autoantigen transcription intermediary factor 1γ in regenerating muscle.

artículo científico publicado en 2015

Extracellular matrix-driven congenital muscular dystrophies

artículo científico publicado en 2018

Fish consumption, long-chain omega-3 fatty acids and risk of cognitive decline or Alzheimer disease: a complex association.

artículo científico publicado en 2009

Genetic regulatory variation in populations informs transcriptome analysis in rare disease

artículo científico publicado en 2019

HSP and deafness: Neurocristopathy caused by a novel mosaic SOX10 mutation.

artículo científico publicado en 2017

Identification of a Novel Deep Intronic Mutation in CAPN3 Presenting a Promising Target for Therapeutic Splice Modulation

scientific article published on 01 January 2019

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

scientific article published on 25 October 2019

Loss of tubulin deglutamylase CCP1 causes infantile-onset neurodegeneration

scientific article published on 12 November 2018

MSTO1 mutations cause mtDNA depletion, manifesting as muscular dystrophy with cerebellar involvement

scientific article published on 29 August 2019

Neurophysiology simplified for imagers

artículo científico

New Insights into the Neuromyogenic Spectrum of a Gain of Function Mutation in SPTLC1

artículo científico publicado en 2022

P4HA1 mutations cause a unique congenital disorder of connective tissue involving tendon, bone, muscle and the eye.

artículo científico publicado en 2017

Quantifying genetic regulatory variation in human populations improves transcriptome analysis in rare disease patients

artículo científico publicado en 2019

Statin-associated autoimmune myopathy and anti-HMGCR autoantibodies.

artículo científico

The spectrum of statin myopathy

artículo científico publicado en 2013

Transcriptome analysis of collagen VI-related muscular dystrophy muscle biopsies

artículo científico publicado en 2021

Lista de obras de

A defect in myoblast fusion underlies Carey-Fineman-Ziter syndrome.

A form of muscular dystrophy associated with pathogenic variants in JAG2

Anterior spinal artery syndrome presenting as cervical myelopathy in a patient with subclavian steal syndrome.

Anti-3-hydroxy-3-methylglutaryl-coenzyme a reductase necrotizing myopathy masquerading as a muscular dystrophy in a child.

Anti-HMGCR Myopathy

Anti-HMGCR myopathy may resemble limb-girdle muscular dystrophy

Common and variable clinical, histological, and imaging findings of recessive RYR1-related centronuclear myopathy patients.

Congenital titinopathy: Comprehensive characterisation and pathogenic insights

Cytoplasmic body pathology in severe ACTA1-related myopathy in the absence of typical nemaline rods.

De novo missense variants in HECW2 are associated with neurodevelopmental delay and hypotonia

Development of a subset of forelimb muscles and their attachment sites requires the ulnar-mammary syndrome gene Tbx3.

Dominant collagen XII mutations cause a distal myopathy

Expression of the dermatomyositis autoantigen transcription intermediary factor 1γ in regenerating muscle.

Extracellular matrix-driven congenital muscular dystrophies

Fish consumption, long-chain omega-3 fatty acids and risk of cognitive decline or Alzheimer disease: a complex association.

Genetic regulatory variation in populations informs transcriptome analysis in rare disease

HSP and deafness: Neurocristopathy caused by a novel mosaic SOX10 mutation.

Identification of a Novel Deep Intronic Mutation in CAPN3 Presenting a Promising Target for Therapeutic Splice Modulation

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

Loss of tubulin deglutamylase CCP1 causes infantile-onset neurodegeneration

MSTO1 mutations cause mtDNA depletion, manifesting as muscular dystrophy with cerebellar involvement

Neurophysiology simplified for imagers

New Insights into the Neuromyogenic Spectrum of a Gain of Function Mutation in SPTLC1

P4HA1 mutations cause a unique congenital disorder of connective tissue involving tendon, bone, muscle and the eye.

Quantifying genetic regulatory variation in human populations improves transcriptome analysis in rare disease patients

Statin-associated autoimmune myopathy and anti-HMGCR autoantibodies.

The spectrum of statin myopathy

Transcriptome analysis of collagen VI-related muscular dystrophy muscle biopsies