List of works - Isabella Moroni

A Recurrent Pathogenic Variant of INPP5K Underlies Autosomal Recessive Congenital Muscular Dystrophy With Cataracts and Intellectual Disability: Evidence for a Founder Effect in Southern Italy

scientific article published on 18 September 2020

A slowly progressive mitochondrial encephalomyopathy widens the spectrum of AIFM1 disorders

scientific article

Bone and Spinal Muscular Atrophy

scientific article published on 5 June 2015

Cavitating leukoencephalopathy with multiple mitochondrial dysfunction syndrome and NFU1 mutations

scientific article

Classification of childhood white matter disorders using proton MR spectroscopic imaging

scientific article

Clinical, biochemical and genetic features associated with VARS2-related mitochondrial disease.

scientific article published on 3 January 2018

Clinical, biochemical and genetic spectrum of 70 patients with ACAD9 deficiency: is riboflavin supplementation effective?

scientific article published on 19 July 2018

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

scientific journal article

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

scientific article (publication date: 26 May 2009)

Costello syndrome: a cancer predisposing syndrome?

scientific article

Expanding the phenotypic spectrum of TRIM2-associated Charcot-Marie-Tooth disease

scientific article published on 19 August 2020

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

scientific article (publication date: June 2009)

L-2-hydroxyglutaric aciduria and brain malignant tumors: a predisposing condition?

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

scientific article

Mitochondrial disease associated with the T8993G mutation of the mitochondrial ATPase 6 gene: a clinical, biochemical, and molecular study in six families ⬇️

scientific article published on July 1, 1997

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

scientific article

Natural history of Charcot-Marie-Tooth disease type 2A: a large international multicentre study

scientific article published on 08 January 2021

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

scientific article

Novel PTRF mutation in a child with mild myopathy and very mild congenital lipodystrophy

scientific article

Prevalence of congenital muscular dystrophy in Italy: a population study

scientific article

Reliability of instrumented movement analysis as outcome measure in Charcot-Marie-Tooth disease: results from a multitask locomotor protocol

scientific article

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

scientific article

Spectrum of MMACHC mutations in Italian and Portuguese patients with combined methylmalonic aciduria and homocystinuria, cblC type.

scientific article

Truncating and missense mutations in IGHMBP2 cause Charcot-Marie Tooth disease type 2.

scientific article

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

scientific article

List of works by Isabella Moroni

A Recurrent Pathogenic Variant of INPP5K Underlies Autosomal Recessive Congenital Muscular Dystrophy With Cataracts and Intellectual Disability: Evidence for a Founder Effect in Southern Italy

A slowly progressive mitochondrial encephalomyopathy widens the spectrum of AIFM1 disorders

Bone and Spinal Muscular Atrophy

Cavitating leukoencephalopathy with multiple mitochondrial dysfunction syndrome and NFU1 mutations

Classification of childhood white matter disorders using proton MR spectroscopic imaging

Clinical, biochemical and genetic features associated with VARS2-related mitochondrial disease.

Clinical, biochemical and genetic spectrum of 70 patients with ACAD9 deficiency: is riboflavin supplementation effective?

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

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

Costello syndrome: a cancer predisposing syndrome?

Expanding the phenotypic spectrum of TRIM2-associated Charcot-Marie-Tooth disease

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

L-2-hydroxyglutaric aciduria and brain malignant tumors: a predisposing condition?

Lack of the mitochondrial protein acylglycerol kinase causes Sengers syndrome

Magnetic resonance imaging spectrum of succinate dehydrogenase-related infantile leukoencephalopathy

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

Mitochondrial disease associated with the T8993G mutation of the mitochondrial ATPase 6 gene: a clinical, biochemical, and molecular study in six families ⬇️

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

Natural history of Charcot-Marie-Tooth disease type 2A: a large international multicentre study

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

Novel PTRF mutation in a child with mild myopathy and very mild congenital lipodystrophy

Prevalence of congenital muscular dystrophy in Italy: a population study

Reliability of instrumented movement analysis as outcome measure in Charcot-Marie-Tooth disease: results from a multitask locomotor protocol

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

Spectrum of MMACHC mutations in Italian and Portuguese patients with combined methylmalonic aciduria and homocystinuria, cblC type.

Truncating and missense mutations in IGHMBP2 cause Charcot-Marie Tooth disease type 2.

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