Lista de obras - Alessandra Ruggieri - Dominio Público Uruguay

A CASQ1 founder mutation in three Italian families with protein aggregate myopathy and hyperCKaemia

artículo científico publicado en 2015

Altered extracellular matrix transcript expression and protein modulation in primary Duchenne muscular dystrophy myotubes.

artículo científico publicado en 2007

CAOS-Episodic Cerebellar Ataxia, Areflexia, Optic Atrophy, and Sensorineural Hearing Loss: A Third Allelic Disorder of the ATP1A3 Gene

artículo científico

Clinical, molecular, and protein correlations in a large sample of genetically diagnosed Italian limb girdle muscular dystrophy patients

artículo científico publicado en 2008

Complete loss of the DNAJB6 G/F domain and novel missense mutations cause distal-onset DNAJB6 myopathy

artículo científico publicado en 2015

Congenital autophagic vacuolar myopathy is allelic to X-linked myopathy with excessive autophagy.

artículo científico publicado en 2015

Congenital muscular dystrophies with defective glycosylation of dystroglycan: a population study

artículo científico publicado en 2009

DNAJB6 Myopathies: Focused Review on an Emerging and Expanding Group of Myopathies

artículo científico publicado en 2016

Dominant mutation causes intellectual disability with remitting epilepsy

artículo científico publicado en 2019

Exosomes and exosomal miRNAs from muscle-derived fibroblasts promote skeletal muscle fibrosis

artículo científico publicado en 2018

Expanding the central nervous system disease spectrum associated with FLNC mutation

scientific article published on 20 February 2019

Glycogen hyperphosphorylation underlies lafora body formation ⬇️

artículo científico publicado el 1 de diciembre de 2010

Increased laforin and laforin binding to glycogen underlie Lafora body formation in malin-deficient Lafora disease.

artículo científico publicado en 2012

Interpreting Genetic Variants in Titin in Patients With Muscle Disorders.

artículo científico publicado en 2018

LAMA2 gene analysis in congenital muscular dystrophy: new mutations, prenatal diagnosis, and founder effect.

artículo científico publicado en 2005

Late adult-onset of X-linked myopathy with excessive autophagy

artículo científico publicado en 2014

Long term follow-up and further molecular and histopathological studies in the LGMD1F sporadic TNPO3-mutated patient

artículo científico publicado en 2018

Non-coding VMA21 deletions cause X-linked myopathy with excessive autophagy

artículo científico publicado en 2014

POMT1 and POMT2 mutations in CMD patients: a multicentric Italian study.

artículo científico publicado en 2008

The genetic basis of undiagnosed muscular dystrophies and myopathies: Results from 504 patients

artículo científico publicado en 2016

VMA21 deficiency prevents vacuolar ATPase assembly and causes autophagic vacuolar myopathy

artículo científico publicado en 2013

Lista de obras de Alessandra Ruggieri

A CASQ1 founder mutation in three Italian families with protein aggregate myopathy and hyperCKaemia

Altered extracellular matrix transcript expression and protein modulation in primary Duchenne muscular dystrophy myotubes.

CAOS-Episodic Cerebellar Ataxia, Areflexia, Optic Atrophy, and Sensorineural Hearing Loss: A Third Allelic Disorder of the ATP1A3 Gene

Clinical, molecular, and protein correlations in a large sample of genetically diagnosed Italian limb girdle muscular dystrophy patients

Complete loss of the DNAJB6 G/F domain and novel missense mutations cause distal-onset DNAJB6 myopathy

Congenital autophagic vacuolar myopathy is allelic to X-linked myopathy with excessive autophagy.

Congenital muscular dystrophies with defective glycosylation of dystroglycan: a population study

DNAJB6 Myopathies: Focused Review on an Emerging and Expanding Group of Myopathies

Dominant mutation causes intellectual disability with remitting epilepsy

Exosomes and exosomal miRNAs from muscle-derived fibroblasts promote skeletal muscle fibrosis

Expanding the central nervous system disease spectrum associated with FLNC mutation

Glycogen hyperphosphorylation underlies lafora body formation ⬇️

Increased laforin and laforin binding to glycogen underlie Lafora body formation in malin-deficient Lafora disease.

Interpreting Genetic Variants in Titin in Patients With Muscle Disorders.

LAMA2 gene analysis in congenital muscular dystrophy: new mutations, prenatal diagnosis, and founder effect.

Late adult-onset of X-linked myopathy with excessive autophagy

Long term follow-up and further molecular and histopathological studies in the LGMD1F sporadic TNPO3-mutated patient

Non-coding VMA21 deletions cause X-linked myopathy with excessive autophagy

POMT1 and POMT2 mutations in CMD patients: a multicentric Italian study.

The genetic basis of undiagnosed muscular dystrophies and myopathies: Results from 504 patients

VMA21 deficiency prevents vacuolar ATPase assembly and causes autophagic vacuolar myopathy