Lista de obras -

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

artículo científico publicado en 2015

Bone and Spinal Muscular Atrophy

artículo científico publicado en 2015

Cavitating leukoencephalopathy with multiple mitochondrial dysfunction syndrome and NFU1 mutations

artículo científico publicado en 2014

Classification of childhood white matter disorders using proton MR spectroscopic imaging

artículo científico publicado en 2008

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

artículo científico publicado en 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

artículo científico publicado en 2009

Costello syndrome: a cancer predisposing syndrome?

artículo científico publicado en 2000

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

artículo científico publicado en 2020

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

artículo científico publicado en 2009

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

artículo científico publicado en 2004

Lack of the mitochondrial protein acylglycerol kinase causes Sengers syndrome

artículo científico publicado en 2012

Magnetic resonance imaging spectrum of succinate dehydrogenase-related infantile leukoencephalopathy

artículo científico publicado en 2015

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

artículo científico publicado en 2015

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

artículo científico publicado el 1 de julio de 1997

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

artículo científico publicado en 2014

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

artículo científico publicado en 2021

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

artículo científico publicado en 2016

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

artículo científico publicado en 2013

Prevalence of congenital muscular dystrophy in Italy: a population study

artículo científico publicado en 2015

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

artículo científico publicado en 2011

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

artículo científico publicado en 2012

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

artículo científico publicado en 2007

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

artículo científico publicado en 2014

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

artículo científico publicado en 2002

Lista de obras de

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.