List of works - Giacomo Brisca

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

scientific article published on 01 April 2016

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

scientific article published on 10 May 2015

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

scientific article published on 22 December 2020

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

scientific article

Diagnosis and management of autoinflammatory diseases in childhood.

scientific article published on 27 March 2008

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

scientific article

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

scientific article published on 02 August 2020

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

scientific article published on 07 July 2016

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

scientific article published on 29 June 2011

Muscle MRI in TRPV4-related congenital distal SMA

scientific article published on 01 January 2012

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

scientific article

Paternal germline mosaicism in collagen VI related myopathies

scientific article published on 30 April 2015

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

scientific article published on 5 August 2015

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

scientific article published on 09 November 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

scientific article

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

scientific article published on 30 June 2020

List of works by 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