List of works - Enrico Bertini

Mutations involved in Aicardi-Goutières syndrome implicate SAMHD1 as regulator of the innate immune response

scientific article

Mutations in genes encoding ribonuclease H2 subunits cause Aicardi-Goutières syndrome and mimic congenital viral brain infection

scientific article

Analysis of glutathione: implication in redox and detoxification

scientific article

Mutations in ADAR1 cause Aicardi-Goutières syndrome associated with a type I interferon signature

scientific article

An autosomal dominant disorder with multiple deletions of mitochondrial DNA starting at the D-loop region

scientific article published in Nature

Consensus Statement for Standard of Care in Spinal Muscular Atrophy

scientific article (publication date: August 2007)

Mutations in CEP290, which encodes a centrosomal protein, cause pleiotropic forms of Joubert syndrome

scientific article (publication date: June 2006)

PLA2G6, encoding a phospholipase A2, is mutated in neurodegenerative disorders with high brain iron

scientific article

Mutations of SURF-1 in Leigh disease associated with cytochrome c oxidase deficiency

scientific article

Mutations in INPP5E, encoding inositol polyphosphate-5-phosphatase E, link phosphatidyl inositol signaling to the ciliopathies

scientific article

COQ2 nephropathy: a newly described inherited mitochondriopathy with primary renal involvement

scientific article

Clinical and molecular phenotype of Aicardi-Goutieres syndrome

scientific article

Mutations in SPG11, encoding spatacsin, are a major cause of spastic paraplegia with thin corpus callosum

scientific article published on 18 February 2007

Phenylbutyrate increases SMN expression in vitro: relevance for treatment of spinal muscular atrophy

scientific article (publication date: 2004)

Neurodegeneration associated with genetic defects in phospholipase A(2).

scientific article published on 17 September 2008

Leukoencephalopathy with thalamus and brainstem involvement and high lactate 'LTBL' caused by EARS2 mutations

scientific article

Ullrich scleroatonic muscular dystrophy is caused by recessive mutations in collagen type VI

scientific article

miRNAs as serum biomarkers for Duchenne muscular dystrophy

scientific article published on 21 March 2011

Mutations in the gene encoding immunoglobulin mu-binding protein 2 cause spinal muscular atrophy with respiratory distress type 1

scientific article (publication date: September 2001)

Spectrum of SCN1A mutations in severe myoclonic epilepsy of infancy

scientific article (publication date: 24 June 2003)

Gene expression profiling in the early phases of DMD: a constant molecular signature characterizes DMD muscle from early postnatal life throughout disease progression

article

De novo LMNA mutations cause a new form of congenital muscular dystrophy

scientific article published in August 2008

RYR1 mutations are a common cause of congenital myopathies with central nuclei

scientific article published on November 2010

Diagnostic approach to the congenital muscular dystrophies

scientific article

Molecular mechanisms and phenotypic variation in RYR1-related congenital myopathies

scientific article

Cerebellar ataxia and coenzyme Q10 deficiency

scientific article published in April 2003

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

scientific article (publication date: 26 May 2009)

Infantile-onset ascending hereditary spastic paralysis is associated with mutations in the alsin gene

scientific article

Mutations in GDP-mannose pyrophosphorylase B cause congenital and limb-girdle muscular dystrophies associated with hypoglycosylation of α-dystroglycan

scientific article

Recessive mutations in EPG5 cause Vici syndrome, a multisystem disorder with defective autophagy.

scientific article

SUCLA2 mutations are associated with mild methylmalonic aciduria, Leigh-like encephalomyopathy, dystonia and deafness

scientific article published on 14 February 2007

CEP290 mutations are frequently identified in the oculo-renal form of Joubert syndrome-related disorders

scientific article

Mutations in KLHL40 are a frequent cause of severe autosomal-recessive nemaline myopathy

scientific article published on 06 June 2013

Childhood spinal muscular atrophy: controversies and challenges

scientific article published on May 2012

North Star Ambulatory Assessment, 6-minute walk test and timed items in ambulant boys with Duchenne muscular dystrophy

scientific article published on 14 July 2010

Functional changes in Duchenne muscular dystrophy: a 12-month longitudinal cohort study.

scientific article published on 6 July 2011

Phosphomannose Isomerase Deficiency: A Carbohydrate-Deficient Glycoprotein Syndrome with Hepatic-Intestinal Presentation

scientific article published on June 1, 1998

Leiomodin-3 dysfunction results in thin filament disorganization and nemaline myopathy

scientific article published on 24 September 2014

AHI1 gene mutations cause specific forms of Joubert syndrome-related disorders

scientific article

Phenylbutyrate increases SMN gene expression in spinal muscular atrophy patients

scientific article

Glutathione in blood of patients with Friedreich's ataxia.

scientific article published in November 2001

Spinal muscular atrophy

scientific article

Actin glutathionylation increases in fibroblasts of patients with Friedreich's ataxia: a potential role in the pathogenesis of the disease

scientific article published on 11 August 2003

Randomized, double-blind, placebo-controlled trial of phenylbutyrate in spinal muscular atrophy

scientific article

EPI-743 reverses the progression of the pediatric mitochondrial disease--genetically defined Leigh Syndrome.

scientific article

DPM2-CDG: a muscular dystrophy-dystroglycanopathy syndrome with severe epilepsy.

scientific article published on October 2012

Affinity proteomics within rare diseases: a BIO-NMD study for blood biomarkers of muscular dystrophies

scientific article

Reliability of the North Star Ambulatory Assessment in a multicentric setting.

scientific article published on 23 June 2009

Collagen VI deficiency affects the organization of fibronectin in the extracellular matrix of cultured fibroblasts

article

Mutations in GTPBP3 cause a mitochondrial translation defect associated with hypertrophic cardiomyopathy, lactic acidosis, and encephalopathy

scientific article

List of works by Enrico Bertini

Mutations involved in Aicardi-Goutières syndrome implicate SAMHD1 as regulator of the innate immune response

Mutations in genes encoding ribonuclease H2 subunits cause Aicardi-Goutières syndrome and mimic congenital viral brain infection

Analysis of glutathione: implication in redox and detoxification

Mutations in ADAR1 cause Aicardi-Goutières syndrome associated with a type I interferon signature

An autosomal dominant disorder with multiple deletions of mitochondrial DNA starting at the D-loop region

Consensus Statement for Standard of Care in Spinal Muscular Atrophy

Mutations in CEP290, which encodes a centrosomal protein, cause pleiotropic forms of Joubert syndrome

PLA2G6, encoding a phospholipase A2, is mutated in neurodegenerative disorders with high brain iron

Mutations of SURF-1 in Leigh disease associated with cytochrome c oxidase deficiency

Mutations in INPP5E, encoding inositol polyphosphate-5-phosphatase E, link phosphatidyl inositol signaling to the ciliopathies

COQ2 nephropathy: a newly described inherited mitochondriopathy with primary renal involvement

Clinical and molecular phenotype of Aicardi-Goutieres syndrome

Mutations in SPG11, encoding spatacsin, are a major cause of spastic paraplegia with thin corpus callosum

Phenylbutyrate increases SMN expression in vitro: relevance for treatment of spinal muscular atrophy

Neurodegeneration associated with genetic defects in phospholipase A(2).

Leukoencephalopathy with thalamus and brainstem involvement and high lactate 'LTBL' caused by EARS2 mutations

Ullrich scleroatonic muscular dystrophy is caused by recessive mutations in collagen type VI

miRNAs as serum biomarkers for Duchenne muscular dystrophy

Mutations in the gene encoding immunoglobulin mu-binding protein 2 cause spinal muscular atrophy with respiratory distress type 1

Spectrum of SCN1A mutations in severe myoclonic epilepsy of infancy

Gene expression profiling in the early phases of DMD: a constant molecular signature characterizes DMD muscle from early postnatal life throughout disease progression

De novo LMNA mutations cause a new form of congenital muscular dystrophy

RYR1 mutations are a common cause of congenital myopathies with central nuclei

Diagnostic approach to the congenital muscular dystrophies

Molecular mechanisms and phenotypic variation in RYR1-related congenital myopathies

Cerebellar ataxia and coenzyme Q10 deficiency

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

Infantile-onset ascending hereditary spastic paralysis is associated with mutations in the alsin gene

Mutations in GDP-mannose pyrophosphorylase B cause congenital and limb-girdle muscular dystrophies associated with hypoglycosylation of α-dystroglycan

Recessive mutations in EPG5 cause Vici syndrome, a multisystem disorder with defective autophagy.

SUCLA2 mutations are associated with mild methylmalonic aciduria, Leigh-like encephalomyopathy, dystonia and deafness

CEP290 mutations are frequently identified in the oculo-renal form of Joubert syndrome-related disorders

Mutations in KLHL40 are a frequent cause of severe autosomal-recessive nemaline myopathy

Childhood spinal muscular atrophy: controversies and challenges

North Star Ambulatory Assessment, 6-minute walk test and timed items in ambulant boys with Duchenne muscular dystrophy

Functional changes in Duchenne muscular dystrophy: a 12-month longitudinal cohort study.

Phosphomannose Isomerase Deficiency: A Carbohydrate-Deficient Glycoprotein Syndrome with Hepatic-Intestinal Presentation

Leiomodin-3 dysfunction results in thin filament disorganization and nemaline myopathy

AHI1 gene mutations cause specific forms of Joubert syndrome-related disorders

Phenylbutyrate increases SMN gene expression in spinal muscular atrophy patients

Glutathione in blood of patients with Friedreich's ataxia.

Spinal muscular atrophy

Actin glutathionylation increases in fibroblasts of patients with Friedreich's ataxia: a potential role in the pathogenesis of the disease

Randomized, double-blind, placebo-controlled trial of phenylbutyrate in spinal muscular atrophy

EPI-743 reverses the progression of the pediatric mitochondrial disease--genetically defined Leigh Syndrome.

DPM2-CDG: a muscular dystrophy-dystroglycanopathy syndrome with severe epilepsy.

Affinity proteomics within rare diseases: a BIO-NMD study for blood biomarkers of muscular dystrophies

Reliability of the North Star Ambulatory Assessment in a multicentric setting.

Collagen VI deficiency affects the organization of fibronectin in the extracellular matrix of cultured fibroblasts

Mutations in GTPBP3 cause a mitochondrial translation defect associated with hypertrophic cardiomyopathy, lactic acidosis, and encephalopathy