List of works - Barbara Garavaglia

A Map of Human Mitochondrial Protein Interactions Linked to Neurodegeneration Reveals New Mechanisms of Redox Homeostasis and NF-κB Signaling

scientific article published on 7 November 2017

A PDE10A de novo mutation causes childhood-onset chorea with diurnal fluctuations.

scientific article published on 26 September 2017

A case of infantile neuroaxonal dystrophy of neonatal onset

scientific article published on 27 May 2014

A family with paroxysmal nonkinesigenic dyskinesias (PNKD): evidence of mitochondrial dysfunction

scientific article published on 18 October 2014

A missense mutation in KCTD17 causes autosomal dominant myoclonus-dystonia

scientific article

A neurophysiological study of myoclonus in patients with DYT11 myoclonus-dystonia syndrome

scientific article published in October 2008

A novel mutation in the SURF1 gene in a child with Leigh disease, peripheral neuropathy, and cytochrome-c oxidase deficiency

scientific article published in March 2002

A slowly progressive mitochondrial encephalomyopathy widens the spectrum of AIFM1 disorders

scientific article

Acute, severe cardiomyopathy as main symptom of late-onset very long-chain acyl-coenzyme A dehydrogenase deficiency

scientific article published on 01 December 1998

Age-related iron deposition in the basal ganglia: quantitative analysis in healthy subjects

scientific article

Analysis of the epsilon-sarcoglycan gene in familial and sporadic myoclonus-dystonia: evidence for genetic heterogeneity.

scientific article

Assessment of the retinal posterior pole in dominant optic atrophy by spectral-domain optical coherence tomography and microperimetry

scientific article

Barth syndrome presenting with acute metabolic decompensation in the neonatal period

scientific article published on 12 August 2006

Beneficial effect of sodium dichloroacetate in muscle cytochrome C oxidase deficiency

scientific article published on 01 June 1993

Benign hereditary chorea and deletions outside NKX2-1: What's the role of MBIP?

scientific article published on 03 April 2018

Biochemical and molecular studies of carnitine palmitoyltransferase II deficiency with hepatocardiomyopathic presentation

scientific article published on January 1, 1992

C19orf12 and FA2H mutations are rare in Italian patients with neurodegeneration with brain iron accumulation

scientific article published in June 2012

Carnitine stimulation of pyruvate dehydrogenase complex (PDHC) in isolated human skeletal muscle mitochondria

scientific article published on 01 July 1988

Cavitating leukoencephalopathy with multiple mitochondrial dysfunction syndrome and NFU1 mutations

scientific article

Cerebrospinal Fluid Monoamine Metabolite Analysis in Pediatric Movement Disorders

scientific article

Childhood-onset ATP1A3-related conditions: Report of two new cases of phenotypic spectrum

Childhood-onset dystonia-causing KMT2B variants result in a distinctive genomic hypermethylation profile

scientific article published on 11 August 2021

Clinical and biochemical findings in a Spanish boy with primary carnitine deficiency

article

Clinical and genetic features of paroxysmal kinesigenic dyskinesia in Italian patients

article

Clinical and molecular heterogeneity in very–long-chain acyl-coenzyme a dehydrogenase deficiency

scientific article published on 01 February 2000

Clinical and neuropsychological correlates in two brothers with pantothenate kinase-associated neurodegeneration

scientific article

Clinical diagnosis of long-chain acyl-coenzyme A-dehydrogenase deficiency: use of stress and fat-loading tests

scientific article published in July 1991

Clinical findings in a patient with FARS2 mutations and early-infantile-encephalopathy with epilepsy.

scientific article published on 23 August 2016

Clinical, radiological and possible pathological overlap of cystic leukoencephalopathy without megalencephaly and Aicardi-Goutières syndrome

scientific article

Coenzyme A corrects pathological defects in human neurons of PANK2-associated neurodegeneration

scientific article published on 11 August 2016

DYT2 screening in early-onset isolated dystonia.

scientific article published on 13 October 2016

De Novo Mutations in PDE10A Cause Childhood-Onset Chorea with Bilateral Striatal Lesions

scientific article published on April 2016

Diagnosis and treatment of pediatric onset isolated dystonia.

scientific article published on 17 January 2018

Downbeat nystagmus as the presenting symptom of infantile neuroaxonal dystrophy: a case report

scientific article

Early onset primary dystonia.

scientific article published on 20 January 2009

Early-onset neurodegeneration with brain iron accumulation due to PANK2 mutation

scientific article published on 14 October 2011

Electroclinical spectrum of the neuronal ceroid lipofuscinoses associated with CLN6 mutations

scientific article published on 26 June 2015

Encephalopathy, petechiae, and acrocyanosis with ethylmalonic aciduria associated with muscle cytochrome c oxidase deficiency

scientific article published on 01 November 1994

Ethylmalonic encephalopathy is caused by mutations in ETHE1, a gene encoding a mitochondrial matrix protein.

scientific article

Exome sequence reveals mutations in CoA synthase as a cause of neurodegeneration with brain iron accumulation

scientific article

Exome sequencing reveals de novo WDR45 mutations causing a phenotypically distinct, X-linked dominant form of NBIA.

scientific article

Expanding the clinical phenotype of DYT5 mutations: Is multiple system atrophy a possible one?

scientific article published on 14 June 2013

Fast Progression of Cerebellar Atrophy in PLA2G6-Associated Infantile Neuronal Axonal Dystrophy.

scientific article published on 14 January 2017

Fatal neonatal outcome in a case of muscular mitochondrial DNA depletion

scientific article published on 01 November 2000

Ferrous Iron Up-regulation in Fibroblasts of Patients with Beta Propeller Protein-Associated Neurodegeneration (BPAN)

scientific article published on 17 February 2017

Frequency and phenotypes of LRRK2 G2019S mutation in Italian patients with Parkinson's disease

article

Frequency of DYT1 mutation in early onset primary dystonia in Italian patients

article

Functional analysis of mutations in the OCTN2 transporter causing primary carnitine deficiency: lack of genotype-phenotype correlation

scientific article published in November 2000

Functional characterization of two novel mutations in TTF-1/NKX2.1 homeodomain in patients with benign hereditary chorea

scientific article

GTP-cyclohydrolase I gene mutations in patients with autosomal dominant and recessive GTP-CH1 deficiency: Identification and functional characterization of four novel mutations

article

Genotypic and phenotypic spectrum of PANK2 mutations in patients with neurodegeneration with brain iron accumulation

scientific article published in February 2006

High frequency stimulation of the subthalamic nucleus is efficacious in Parkin disease.

scientific article published in February 2005

Human L-ferritin deficiency is characterized by idiopathic generalized seizures and atypical restless leg syndrome.

scientific article published on 12 August 2013

Hypoparathyroidism in mitochondrial trifunctional protein deficiency

scientific article published on 01 July 1996

Impaired degradation of phytanic acid in cells from patients with mitochondriopathies: evidence for the involvement of ETF and the respiratory chain in phytanic acid alpha-oxidation.

scientific article published in January 1994

Infantile neuroaxonal dystrophy and pantothenate-kinase-associated neurodegeneration: locus heterogeneity.

scientific article published in September 2004

Iron-related MRI images in patients with pantothenate kinase-associated neurodegeneration (PKAN) treated with deferiprone: results of a phase II pilot trial

scientific article

Isolated limb dystonia as presenting feature of Parkin disease

scientific article published on 21 March 2014

KARS-related diseases: progressive leukoencephalopathy with brainstem and spinal cord calcifications as new phenotype and a review of literature.

scientific article published on 4 April 2018

Late onset sporadic Parkinson's disease caused by PINK1 mutations: clinical and functional study

scientific article

Late-onset riboflavin-responsive myopathy with combined multiple acyl coenzyme A dehydrogenase and respiratory chain deficiency

scientific article published on 01 November 1994

Lethal neonatal presentation of carnitine palmitoyltransferase I deficiency

scientific article published in October 2001

Long-term follow-up in spastic paraplegia due to SPG56/CYP2U1: age-dependency rather than genetic variability?

scientific article

MECR Mutations Cause Childhood-Onset Dystonia and Optic Atrophy, a Mitochondrial Fatty Acid Synthesis Disorder

scientific journal article

MRI Findings in Patients with Clinical Onset Consistent with Infantile Neuroaxonal Dystrophy (INAD), Literature Review, Clinical and MRI Follow-up

scientific article

Medium-chain triglyceride loading test in carnitine-acylcarnitine translocase deficiency: insights on treatment

scientific article published on 01 August 1999

Metabolic consequences of mitochondrial coenzyme A deficiency in patients with PANK2 mutations

scientific article

Metabolic myopathies

scientific article published in March 1991

Mild or absent clinical signs in twin sisters with short-chain acyl-CoA dehydrogenase deficiency

scientific article published on 01 April 1998

Mitochondrial Complex III Deficiency Caused by TTC19 Defects: Report of a Novel Mutation and Review of Literature.

scientific article

Mitochondrial DNA haplogroup K is associated with a lower risk of Parkinson's disease in Italians.

scientific article

Mitochondrial dysfunction in Parkinson disease: evidence in mutant PARK2 fibroblasts

scientific article published on 11 March 2015

Mitochondrial iron and energetic dysfunction distinguish fibroblasts and induced neurons from pantothenate kinase-associated neurodegeneration patients

scientific article published on 30 March 2015

Molecular Genetics and Interferon Signature in the Italian Aicardi Goutières Syndrome Cohort: Report of 12 New Cases and Literature Review

scientific article published on 26 May 2019

Molecular and functional analysis of SLC25A20 mutations causing carnitine-acylcarnitine translocase deficiency.

scientific article

Molecular epidemiology of childhood neuronal ceroid-lipofuscinosis in Italy

scientific article published on 2 February 2013

Molecular heterogeneity of beta-ETF deficiency in glutaric aciduria type II

scientific article published on January 1, 1992

Multiplex ligation-dependent probe amplification assay for simultaneous detection of Parkinson's disease gene rearrangements

article

Multisystem triglyceride storage disease is due to a specific defect in the degradation of endocellularly synthesized triglycerides

scientific article published on 01 July 1988

Muscle cytochromec oxidase deficiency in two Italian patients with ethylmalonic aciduria and peculiar clinical phenotype

article

Mutation Analysis of the GCDH Gene in Italian and Portuguese Patients with Glutaric Aciduria Type I

article

Mutation screening of the DYT6/THAP1 gene in Italy

scientific article

Mutations and polymorphisms of the gene encoding the beta-subunit of the electron transfer flavoprotein in three patients with glutaric acidemia type II

scientific journal article

Myoclonus–dystonia syndrome: Clinical presentation, disease course, and genetic features in 11 families

scientific article published on 01 January 2008

Neonatal dopa-responsive extrapyramidal syndrome in twins with recessive GTPCH deficiency.

scientific article

Neurological Disorders Associated with Striatal Lesions: Classification and Diagnostic Approach.

scientific article

Neurophysiological evaluation of motor corticospinal pathways by TMS in idiopathic early-onset Parkinson's disease.

scientific article published on 24 August 2010

New genes and pathomechanisms in mitochondrial disorders unraveled by NGS technologies

scientific article published on 8 March 2016

Normal cardiovascular reflex testing in patients with parkin disease.

scientific article published in March 2007

Novel DYT11 gene mutation in patients without dopaminergic deficit (SWEDD) screened for dystonia

scientific article published on 22 August 2014

Novel GNAL mutation with intra-familial clinical heterogeneity: Expanding the phenotype

scientific article

Novel phenotype in a family with infantile convulsions and paroxysmal choreoathetosis syndrome and PRRT2 gene mutation

scientific article published on 24 September 2013

PINK1 heterozygous rare variants: prevalence, significance and phenotypic spectrum

scientific article published in April 2008

Parkin analysis in early onset Parkinson's disease

scholarly article by F. Sironi et al published May 2008 in Parkinsonism and Related Disorders

Patient Affected by Beta-Propeller Protein-Associated Neurodegeneration: A Therapeutic Attempt with Iron Chelation Therapy

scientific article published on 21 August 2017

Peripheral sensory-motor polyneuropathy, pigmentary retinopathy, and fatal cardiomyopathy in long-chain 3-hydroxy-acyl-CoA dehydrogenase deficiency

scientific article published on 01 February 1992

Phenotype and genotype variation in primary carnitine deficiency ⬇️

scientific article published on November 1, 2001

Phenotype and natural history of variant late infantile ceroid-lipofuscinosis 5.

scientific article published on 25 May 2017

Primary carnitine deficiency: Heterozygote and intrafamilial phenotypic variation

scientific article published on 01 October 1991

Propionylcarnitine excretion in propionic and methylmalonic acidurias: a cause of carnitine deficiency.

scientific article published on May 1984

Rare causes of early-onset dystonia-parkinsonism with cognitive impairment: a de novo PSEN-1 mutation

scientific article

Riboflavin-responsive glutaric aciduria type II presenting as a leukodystrophy

scientific article published on 01 November 1995

Running apraxia as a presenting symptom of neuronal ceroid lipofuscinosis 6.

scientific article

SLC19A3 related disorder: Treatment implication and clinical outcome of 2 new patients.

scientific article published on 16 December 2017

Sequence variations in mitochondrial ferritin: distribution in healthy controls and different types of patients.

scientific article

Skin fibroblasts from pantothenate kinase-associated neurodegeneration patients show altered cellular oxidative status and have defective iron-handling properties.

scientific article

Sudden infant death and multiple acyl-CoA dehydrogenation disorders

scientific article published on 01 May 1995

Syndrome of encephalopathy, petechiae, and ethylmalonic aciduria.

scientific article published in September 1997

Systemic carnitine deficiency: Clinical, biochemical, and morphological cure with L-carnitine

scientific article published on 01 February 1984

Telethon Network of Genetic Biobanks: a key service for diagnosis and research on rare diseases

scientific article published on 30 August 2013

The "eye-of-the-tiger" sign may be absent in the early stages of classic pantothenate kinase associated neurodegeneration.

scientific article

The EuroBioBank Network: 10 years of hands-on experience of collaborative, transnational biobanking for rare diseases

scientific article

The Neuronal Ceroid Lipofuscinoses: A Case-Based Overview

scientific article published in 2016

The Role of VPS35 in the Pathobiology of Parkinson's Disease

scientific article published on 22 April 2020

The alliance between genetic biobanks and patient organisations: the experience of the telethon network of genetic biobanks

scientific article

The mitochondrial DNA C3303T mutation can cause cardiomyopathy and/or skeletal myopathy

scientific article published on 01 August 1999

The relevance of gender in Parkinson's disease: a review

scientific article published on 4 January 2017

The relevance of gene panels in movement disorders diagnosis: A lab perspective.

scientific article published on 29 January 2018

Thiamine-responsive disease due to mutation of tpk1 : Importance of avoiding misdiagnosis

scientific article published on 26 July 2017

Towards the standardization of mitochondrial proteomics: the Italian mt-HPP initiative

scientific article

Variant late infantile ceroid lipofuscinoses associated with novel mutations in CLN6

scientific article published on 07 January 2009

Very-long-chain acyl-coenzyme A dehydrogenase deficiency in a child with recurrent myoglobinuria

scientific article published on 01 February 1998

cDNA cloning and mitochondrial import of the beta-subunit of the human electron-transfer flavoprotein

scientific article

β-Propeller protein-associated neurodegeneration: a new X-linked dominant disorder with brain iron accumulation

scientific article published on 17 May 2013

List of works by Barbara Garavaglia

A Map of Human Mitochondrial Protein Interactions Linked to Neurodegeneration Reveals New Mechanisms of Redox Homeostasis and NF-κB Signaling

A PDE10A de novo mutation causes childhood-onset chorea with diurnal fluctuations.

A case of infantile neuroaxonal dystrophy of neonatal onset

A family with paroxysmal nonkinesigenic dyskinesias (PNKD): evidence of mitochondrial dysfunction

A missense mutation in KCTD17 causes autosomal dominant myoclonus-dystonia

A neurophysiological study of myoclonus in patients with DYT11 myoclonus-dystonia syndrome

A novel mutation in the SURF1 gene in a child with Leigh disease, peripheral neuropathy, and cytochrome-c oxidase deficiency

A slowly progressive mitochondrial encephalomyopathy widens the spectrum of AIFM1 disorders

Acute, severe cardiomyopathy as main symptom of late-onset very long-chain acyl-coenzyme A dehydrogenase deficiency

Age-related iron deposition in the basal ganglia: quantitative analysis in healthy subjects

Analysis of the epsilon-sarcoglycan gene in familial and sporadic myoclonus-dystonia: evidence for genetic heterogeneity.

Assessment of the retinal posterior pole in dominant optic atrophy by spectral-domain optical coherence tomography and microperimetry

Barth syndrome presenting with acute metabolic decompensation in the neonatal period

Beneficial effect of sodium dichloroacetate in muscle cytochrome C oxidase deficiency

Benign hereditary chorea and deletions outside NKX2-1: What's the role of MBIP?

Biochemical and molecular studies of carnitine palmitoyltransferase II deficiency with hepatocardiomyopathic presentation

C19orf12 and FA2H mutations are rare in Italian patients with neurodegeneration with brain iron accumulation

Carnitine stimulation of pyruvate dehydrogenase complex (PDHC) in isolated human skeletal muscle mitochondria

Cavitating leukoencephalopathy with multiple mitochondrial dysfunction syndrome and NFU1 mutations

Cerebrospinal Fluid Monoamine Metabolite Analysis in Pediatric Movement Disorders

Childhood-onset ATP1A3-related conditions: Report of two new cases of phenotypic spectrum

Childhood-onset dystonia-causing KMT2B variants result in a distinctive genomic hypermethylation profile

Clinical and biochemical findings in a Spanish boy with primary carnitine deficiency

Clinical and genetic features of paroxysmal kinesigenic dyskinesia in Italian patients

Clinical and molecular heterogeneity in very–long-chain acyl-coenzyme a dehydrogenase deficiency

Clinical and neuropsychological correlates in two brothers with pantothenate kinase-associated neurodegeneration

Clinical diagnosis of long-chain acyl-coenzyme A-dehydrogenase deficiency: use of stress and fat-loading tests

Clinical findings in a patient with FARS2 mutations and early-infantile-encephalopathy with epilepsy.

Clinical, radiological and possible pathological overlap of cystic leukoencephalopathy without megalencephaly and Aicardi-Goutières syndrome

Coenzyme A corrects pathological defects in human neurons of PANK2-associated neurodegeneration

DYT2 screening in early-onset isolated dystonia.

De Novo Mutations in PDE10A Cause Childhood-Onset Chorea with Bilateral Striatal Lesions

Diagnosis and treatment of pediatric onset isolated dystonia.

Downbeat nystagmus as the presenting symptom of infantile neuroaxonal dystrophy: a case report

Early onset primary dystonia.

Early-onset neurodegeneration with brain iron accumulation due to PANK2 mutation

Electroclinical spectrum of the neuronal ceroid lipofuscinoses associated with CLN6 mutations

Encephalopathy, petechiae, and acrocyanosis with ethylmalonic aciduria associated with muscle cytochrome c oxidase deficiency

Ethylmalonic encephalopathy is caused by mutations in ETHE1, a gene encoding a mitochondrial matrix protein.

Exome sequence reveals mutations in CoA synthase as a cause of neurodegeneration with brain iron accumulation

Exome sequencing reveals de novo WDR45 mutations causing a phenotypically distinct, X-linked dominant form of NBIA.

Expanding the clinical phenotype of DYT5 mutations: Is multiple system atrophy a possible one?

Fast Progression of Cerebellar Atrophy in PLA2G6-Associated Infantile Neuronal Axonal Dystrophy.

Fatal neonatal outcome in a case of muscular mitochondrial DNA depletion

Ferrous Iron Up-regulation in Fibroblasts of Patients with Beta Propeller Protein-Associated Neurodegeneration (BPAN)

Frequency and phenotypes of LRRK2 G2019S mutation in Italian patients with Parkinson's disease

Frequency of DYT1 mutation in early onset primary dystonia in Italian patients

Functional analysis of mutations in the OCTN2 transporter causing primary carnitine deficiency: lack of genotype-phenotype correlation

Functional characterization of two novel mutations in TTF-1/NKX2.1 homeodomain in patients with benign hereditary chorea

GTP-cyclohydrolase I gene mutations in patients with autosomal dominant and recessive GTP-CH1 deficiency: Identification and functional characterization of four novel mutations

Genotypic and phenotypic spectrum of PANK2 mutations in patients with neurodegeneration with brain iron accumulation

High frequency stimulation of the subthalamic nucleus is efficacious in Parkin disease.

Human L-ferritin deficiency is characterized by idiopathic generalized seizures and atypical restless leg syndrome.

Hypoparathyroidism in mitochondrial trifunctional protein deficiency

Impaired degradation of phytanic acid in cells from patients with mitochondriopathies: evidence for the involvement of ETF and the respiratory chain in phytanic acid alpha-oxidation.

Infantile neuroaxonal dystrophy and pantothenate-kinase-associated neurodegeneration: locus heterogeneity.

Iron-related MRI images in patients with pantothenate kinase-associated neurodegeneration (PKAN) treated with deferiprone: results of a phase II pilot trial

Isolated limb dystonia as presenting feature of Parkin disease

KARS-related diseases: progressive leukoencephalopathy with brainstem and spinal cord calcifications as new phenotype and a review of literature.

Late onset sporadic Parkinson's disease caused by PINK1 mutations: clinical and functional study

Late-onset riboflavin-responsive myopathy with combined multiple acyl coenzyme A dehydrogenase and respiratory chain deficiency

Lethal neonatal presentation of carnitine palmitoyltransferase I deficiency

Long-term follow-up in spastic paraplegia due to SPG56/CYP2U1: age-dependency rather than genetic variability?

MECR Mutations Cause Childhood-Onset Dystonia and Optic Atrophy, a Mitochondrial Fatty Acid Synthesis Disorder

MRI Findings in Patients with Clinical Onset Consistent with Infantile Neuroaxonal Dystrophy (INAD), Literature Review, Clinical and MRI Follow-up

Medium-chain triglyceride loading test in carnitine-acylcarnitine translocase deficiency: insights on treatment

Metabolic consequences of mitochondrial coenzyme A deficiency in patients with PANK2 mutations

Metabolic myopathies

Mild or absent clinical signs in twin sisters with short-chain acyl-CoA dehydrogenase deficiency

Mitochondrial Complex III Deficiency Caused by TTC19 Defects: Report of a Novel Mutation and Review of Literature.

Mitochondrial DNA haplogroup K is associated with a lower risk of Parkinson's disease in Italians.

Mitochondrial dysfunction in Parkinson disease: evidence in mutant PARK2 fibroblasts

Mitochondrial iron and energetic dysfunction distinguish fibroblasts and induced neurons from pantothenate kinase-associated neurodegeneration patients

Molecular Genetics and Interferon Signature in the Italian Aicardi Goutières Syndrome Cohort: Report of 12 New Cases and Literature Review

Molecular and functional analysis of SLC25A20 mutations causing carnitine-acylcarnitine translocase deficiency.

Molecular epidemiology of childhood neuronal ceroid-lipofuscinosis in Italy

Molecular heterogeneity of beta-ETF deficiency in glutaric aciduria type II

Multiplex ligation-dependent probe amplification assay for simultaneous detection of Parkinson's disease gene rearrangements

Multisystem triglyceride storage disease is due to a specific defect in the degradation of endocellularly synthesized triglycerides