Lista de obras - Giacomo Brisca - Dominio Público Uruguay

Beyond spinal muscular atrophy with lower extremity dominance: cerebellar hypoplasia associated with a novel mutation inBICD2

artículo científico publicado en 2016

Centronuclear myopathies: genotype-phenotype correlation and frequency of defined genetic forms in an Italian cohort.

artículo científico publicado en 2015

Clinical course of COVID-19 in children with pre-existing medical conditions

artículo científico publicado en 2020

Clinical expression of facioscapulohumeral muscular dystrophy in carriers of 1-3 D4Z4 reduced alleles: experience of the FSHD Italian National Registry

artículo científico publicado en 2016

Diagnosis and management of autoinflammatory diseases in childhood.

artículo científico publicado en 2008

Early onset cardiomyopathy associated with the mitochondrial tRNALeu((UUR)) 3271T>C MELAS mutation

artículo científico publicado en 2015

Listeria meningitis complicated by hydrocephalus in an immunocompetent child: case report and review of the literature

artículo científico publicado en 2020

MYH7-related myopathies: clinical, histopathological and imaging findings in a cohort of Italian patients.

artículo científico publicado en 2016

Mitochondrial myopathy in a child with a muscle-restricted mutation in the mitochondrial transfer RNAAsn gene

artículo científico publicado en 2011

Muscle MRI in TRPV4-related congenital distal SMA

artículo científico publicado en 2012

Novel dynein DYNC1H1 neck and motor domain mutations link distal spinal muscular atrophy and abnormal cortical development

artículo científico publicado en 2014

Paternal germline mosaicism in collagen VI related myopathies

artículo científico publicado en 2015

Reading impairment in Duchenne muscular dystrophy: A pilot study to investigate similarities and differences with developmental dyslexia.

artículo científico publicado en 2015

Subclinical myopathy in a child with neutral lipid storage disease and mutations in the PNPLA2 gene

artículo científico publicado en 2012

Successful treatment of idiopathic recurrent pericarditis in children with interleukin-1beta receptor antagonist (anakinra): an unrecognized autoinflammatory disease?

scientific article published on 01 January 2009

TRPV4 mutations in children with congenital distal spinal muscular atrophy

artículo científico publicado en 2012

The early experiences of a single tertiary Italian emergency department treating COVID-19 in children

artículo científico publicado en 2020

Lista de obras de Giacomo Brisca

Beyond spinal muscular atrophy with lower extremity dominance: cerebellar hypoplasia associated with a novel mutation inBICD2

Centronuclear myopathies: genotype-phenotype correlation and frequency of defined genetic forms in an Italian cohort.

Clinical course of COVID-19 in children with pre-existing medical conditions

Clinical expression of facioscapulohumeral muscular dystrophy in carriers of 1-3 D4Z4 reduced alleles: experience of the FSHD Italian National Registry

Diagnosis and management of autoinflammatory diseases in childhood.

Early onset cardiomyopathy associated with the mitochondrial tRNALeu((UUR)) 3271T>C MELAS mutation

Listeria meningitis complicated by hydrocephalus in an immunocompetent child: case report and review of the literature

MYH7-related myopathies: clinical, histopathological and imaging findings in a cohort of Italian patients.

Mitochondrial myopathy in a child with a muscle-restricted mutation in the mitochondrial transfer RNAAsn gene

Muscle MRI in TRPV4-related congenital distal SMA

Novel dynein DYNC1H1 neck and motor domain mutations link distal spinal muscular atrophy and abnormal cortical development

Paternal germline mosaicism in collagen VI related myopathies

Reading impairment in Duchenne muscular dystrophy: A pilot study to investigate similarities and differences with developmental dyslexia.

Subclinical myopathy in a child with neutral lipid storage disease and mutations in the PNPLA2 gene

Successful treatment of idiopathic recurrent pericarditis in children with interleukin-1beta receptor antagonist (anakinra): an unrecognized autoinflammatory disease?

TRPV4 mutations in children with congenital distal spinal muscular atrophy

The early experiences of a single tertiary Italian emergency department treating COVID-19 in children