List of works - Isabella Moroni

"Mitochondrial neuropathies": A survey from the large cohort of the Italian Network

scientific article

A Novel Homozygous YARS2 Mutation in Two Italian Siblings and a Review of Literature

scientific article

A missense mutation in the mitochondrial ND5 gene associated with a Leigh-MELAS overlap syndrome

scientific article published in June 2003

A novel homozygous mutation in SUCLA2 gene identified by exome sequencing

scientific article

Balance impairment in pediatric charcot-marie-tooth disease

scientific article published on 15 May 2019

Biallelic Mutations in DNM1L are Associated with a Slowly Progressive Infantile Encephalopathy

scientific article published on 22 June 2016

Bone and Spinal Muscular Atrophy

scientific article published on 5 June 2015

Brown-Vialetto-van Laere and Fazio-Londe overlap syndromes: a clinical, biochemical and genetic study

scientific article published on 21 July 2012

COA7 (C1orf163/RESA1) mutations associated with mitochondrial leukoencephalopathy and cytochrome c oxidase deficiency

scientific article published on 28 September 2016

Cavitating leukoencephalopathy with multiple mitochondrial dysfunction syndrome and NFU1 mutations

scientific article

Childhood onset of acquired neuromyotonia: association with a ganglioneuroma.

scientific article

Clinical, histological and genetic characterisation of patients with tubular aggregate myopathy caused by mutations in STIM1

scientific journal article

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

scientific article

Congenital muscular dystrophy with muscle inflammation alpha dystroglycan glycosylation defect and no mutation in FKRP gene

scientific article published on 4 January 2006

Congenital myasthenic syndrome: phenotypic variability in patients harbouring p.T159P mutation in CHRNE gene

scientific article

Corrigendum to "Response to: Mitochondrial neuropathy affects peripheral and cranial nerves and is primary or secondary or both" [Neuromuscular Disorders 26/8 (2016) 549].

scientific article published on 8 February 2017

Cortical myoclonus in childhood and juvenile onset Huntington's disease

scientific article published on 10 April 2012

Development, reliability and validity of the Charcot-Marie-Tooth disease Pediatric Scale (CMTPedS).

scientific article published on 20 May 2011

Effects of riboflavin in children with complex II deficiency

scientific article

Erratum to: Development and validation of the Charcot-Marie-Tooth Disease Infant Scale

scholarly article published in Brain

Erratum to: Redefining phenotypes associated with mitochondrial DNA single deletion

scholarly article published in Journal of Neurology

Exome sequencing and functional validation in zebrafish identify GTDC2 mutations as a cause of Walker-Warburg syndrome

scientific article

Fukutin gene mutations in an Italian patient with early onset muscular dystrophy but no central nervous system involvement

scientific article (publication date: June 2009)

Functional genome-wide siRNA screen identifies KIAA0586 as mutated in Joubert syndrome ⬇️

scientific article published on 30 May 2015

Genotype-phenotype characteristics and baseline natural history of heritable neuropathies caused by mutations in the MPZ gene

scientific article

Identification of previously unreported mutations in CHRNA1, CHRNE and RAPSN genes in three unrelated Italian patients with congenital myasthenic syndromes

scientific article published on 16 February 2010

Intracranial calcification in early infantile Krabbe disease: nothing new under the sun.

scientific article

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

scientific article

LYRM7 mutations cause a multifocal cavitating leukoencephalopathy with distinct MRI appearance

scientific article

Lack of the mitochondrial protein acylglycerol kinase causes Sengers syndrome

scientific article

Magnetic resonance imaging spectrum of succinate dehydrogenase-related infantile leukoencephalopathy

scientific article

Mitochondrial leukoencephalopathy and complex II deficiency associated with a recessive SDHB mutation with reduced penetrance

scientific article published on December 2015

Mutations in APOPT1, encoding a mitochondrial protein, cause cavitating leukoencephalopathy with cytochrome c oxidase deficiency

scientific article

Mutations in INPP5K Cause a Form of Congenital Muscular Dystrophy Overlapping Marinesco-Sjögren Syndrome and Dystroglycanopathy

scientific article published on February 2017

Myoclonus in mitochondrial disorders

scientific article published on 7 February 2014

Natural history of Charcot-Marie-Tooth disease during childhood

scientific article

Neurologic Phenotypes Associated With Mutations in RTN4IP1 (OPA10) in Children and Young Adults

scientific article published on 27 November 2017

New genes and pathomechanisms in mitochondrial disorders unraveled by NGS technologies

scientific article published on 8 March 2016

Not only dominant, not only optic atrophy: expanding the clinical spectrum associated with OPA1 mutations

scientific article published on 12 May 2017

Novel mutations in the GDAP1 gene in patients affected with early-onset axonal Charcot-Marie-Tooth type 4A.

scientific article

Outcome measures for Charcot-Marie-Tooth disease: clinical and neurofunctional assessment in children

scientific article published on September 2011

Pearson Syndrome: A Retrospective Cohort Study from the Marrow Failure Study Group of A.I.E.O.P. (Associazione Italiana Emato-Oncologia Pediatrica).

scientific article published on 4 August 2015

Peripheral neuropathy in mitochondrial disorders

scientific article

Phenotypic Variability of Childhood Charcot-Marie-Tooth Disease

scientific article published on 04 April 2016

Phenotypic heterogeneity of the 8344A>G mtDNA "MERRF" mutation

scientific article published in May 2013

Prevalence of congenital muscular dystrophy in Italy: a population study

scientific article

Redefining phenotypes associated with mitochondrial DNA single deletion

scientific article published on 26 March 2015

SETX mutations are a frequent genetic cause of juvenile and adult onset cerebellar ataxia with neuropathy and elevated serum alpha-fetoprotein

scientific article published on 14 August 2013

Screening for SH3TC2 gene mutations in a series of demyelinating recessive Charcot-Marie-Tooth disease (CMT4).

scientific article published on 27 May 2016

Sequence and copy number analyses of HEXB gene in patients affected by Sandhoff disease: functional characterization of 9 novel sequence variants

scientific article

The italian limb girdle muscular dystrophy registry: Relative frequency, clinical features, and differential diagnosis

scientific article

The m.3243A>G mitochondrial DNA mutation and related phenotypes. A matter of gender?

scientific article

Transitioning outcome measures: relationship between the CMTPedS and CMTNSv2 in children, adolescents, and young adults with Charcot-Marie-Tooth disease

scientific article published on June 2013

Unusual presentations and intrafamilial phenotypic variability in infantile onset Alexander disease

scientific article published on 7 January 2016

Very mild features of dysequilibrium syndrome associated with a novel VLDLR missense mutation

scientific article published on 2 June 2016

X-linked creatine deficiency syndrome: a novel mutation in creatine transporter gene SLC6A8.

scientific article

List of works by Isabella Moroni

"Mitochondrial neuropathies": A survey from the large cohort of the Italian Network

A Novel Homozygous YARS2 Mutation in Two Italian Siblings and a Review of Literature

A missense mutation in the mitochondrial ND5 gene associated with a Leigh-MELAS overlap syndrome

A novel homozygous mutation in SUCLA2 gene identified by exome sequencing

Balance impairment in pediatric charcot-marie-tooth disease

Biallelic Mutations in DNM1L are Associated with a Slowly Progressive Infantile Encephalopathy

Bone and Spinal Muscular Atrophy

Brown-Vialetto-van Laere and Fazio-Londe overlap syndromes: a clinical, biochemical and genetic study

COA7 (C1orf163/RESA1) mutations associated with mitochondrial leukoencephalopathy and cytochrome c oxidase deficiency

Cavitating leukoencephalopathy with multiple mitochondrial dysfunction syndrome and NFU1 mutations

Childhood onset of acquired neuromyotonia: association with a ganglioneuroma.

Clinical, histological and genetic characterisation of patients with tubular aggregate myopathy caused by mutations in STIM1

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

Congenital muscular dystrophy with muscle inflammation alpha dystroglycan glycosylation defect and no mutation in FKRP gene

Congenital myasthenic syndrome: phenotypic variability in patients harbouring p.T159P mutation in CHRNE gene

Corrigendum to "Response to: Mitochondrial neuropathy affects peripheral and cranial nerves and is primary or secondary or both" [Neuromuscular Disorders 26/8 (2016) 549].

Cortical myoclonus in childhood and juvenile onset Huntington's disease

Development, reliability and validity of the Charcot-Marie-Tooth disease Pediatric Scale (CMTPedS).

Effects of riboflavin in children with complex II deficiency

Erratum to: Development and validation of the Charcot-Marie-Tooth Disease Infant Scale

Erratum to: Redefining phenotypes associated with mitochondrial DNA single deletion

Exome sequencing and functional validation in zebrafish identify GTDC2 mutations as a cause of Walker-Warburg syndrome

Fukutin gene mutations in an Italian patient with early onset muscular dystrophy but no central nervous system involvement

Functional genome-wide siRNA screen identifies KIAA0586 as mutated in Joubert syndrome ⬇️

Genotype-phenotype characteristics and baseline natural history of heritable neuropathies caused by mutations in the MPZ gene

Identification of previously unreported mutations in CHRNA1, CHRNE and RAPSN genes in three unrelated Italian patients with congenital myasthenic syndromes

Intracranial calcification in early infantile Krabbe disease: nothing new under the sun.

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

LYRM7 mutations cause a multifocal cavitating leukoencephalopathy with distinct MRI appearance

Lack of the mitochondrial protein acylglycerol kinase causes Sengers syndrome

Magnetic resonance imaging spectrum of succinate dehydrogenase-related infantile leukoencephalopathy

Mitochondrial leukoencephalopathy and complex II deficiency associated with a recessive SDHB mutation with reduced penetrance

Mutations in APOPT1, encoding a mitochondrial protein, cause cavitating leukoencephalopathy with cytochrome c oxidase deficiency

Mutations in INPP5K Cause a Form of Congenital Muscular Dystrophy Overlapping Marinesco-Sjögren Syndrome and Dystroglycanopathy

Myoclonus in mitochondrial disorders

Natural history of Charcot-Marie-Tooth disease during childhood

Neurologic Phenotypes Associated With Mutations in RTN4IP1 (OPA10) in Children and Young Adults

New genes and pathomechanisms in mitochondrial disorders unraveled by NGS technologies

Not only dominant, not only optic atrophy: expanding the clinical spectrum associated with OPA1 mutations

Novel mutations in the GDAP1 gene in patients affected with early-onset axonal Charcot-Marie-Tooth type 4A.

Outcome measures for Charcot-Marie-Tooth disease: clinical and neurofunctional assessment in children

Pearson Syndrome: A Retrospective Cohort Study from the Marrow Failure Study Group of A.I.E.O.P. (Associazione Italiana Emato-Oncologia Pediatrica).

Peripheral neuropathy in mitochondrial disorders

Phenotypic Variability of Childhood Charcot-Marie-Tooth Disease

Phenotypic heterogeneity of the 8344A>G mtDNA "MERRF" mutation

Prevalence of congenital muscular dystrophy in Italy: a population study

Redefining phenotypes associated with mitochondrial DNA single deletion

SETX mutations are a frequent genetic cause of juvenile and adult onset cerebellar ataxia with neuropathy and elevated serum alpha-fetoprotein

Screening for SH3TC2 gene mutations in a series of demyelinating recessive Charcot-Marie-Tooth disease (CMT4).

Sequence and copy number analyses of HEXB gene in patients affected by Sandhoff disease: functional characterization of 9 novel sequence variants

The italian limb girdle muscular dystrophy registry: Relative frequency, clinical features, and differential diagnosis

The m.3243A>G mitochondrial DNA mutation and related phenotypes. A matter of gender?

Transitioning outcome measures: relationship between the CMTPedS and CMTNSv2 in children, adolescents, and young adults with Charcot-Marie-Tooth disease

Unusual presentations and intrafamilial phenotypic variability in infantile onset Alexander disease

Very mild features of dysequilibrium syndrome associated with a novel VLDLR missense mutation

X-linked creatine deficiency syndrome: a novel mutation in creatine transporter gene SLC6A8.