List of works - Filippo Maria Santorelli

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

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

Hereditary spastic paraplegia: clinical-genetic characteristics and evolving molecular mechanisms

scientific article

Identification of the SPG15 gene, encoding spastizin, as a frequent cause of complicated autosomal-recessive spastic paraplegia, including Kjellin syndrome

scientific article

Alteration of fatty-acid-metabolizing enzymes affects mitochondrial form and function in hereditary spastic paraplegia

scientific article

Methylmalonic and propionic aciduria

scientific article

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

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

scientific article published on 14 February 2007

Reactive oxygen species, oxidative stress, and cell death correlate with level of CoQ10 deficiency

scientific article

Supercomplexes and subcomplexes of mitochondrial oxidative phosphorylation

scientific article published on 12 May 2006

Mutations in SPG11 are frequent in autosomal recessive spastic paraplegia with thin corpus callosum, cognitive decline and lower motor neuron degeneration

scientific article published on 13 December 2007

Mitochondrial encephalomyopathy with coenzyme Q10 deficiency

scientific article published on 01 May 1997

Glutathione in blood of patients with Friedreich's ataxia.

scientific article published in November 2001

A homoplasmic mitochondrial transfer ribonucleic acid mutation as a cause of maternally inherited hypertrophic cardiomyopathy

scientific article published in May 2003

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

scientific article published on October 2012

Identification of a Novel Mutation in the mtDNA ND5 Gene Associated with MELAS

scientific article published on September 18, 1997

Clinical and molecular features of mitochondrial DNA depletion due to mutations in deoxyguanosine kinase.

scientific article published in February 2008

Functional assays in high-resolution clear native gels to quantify mitochondrial complexes in human biopsies and cell lines

scientific article published on November 2007

Autism with seizures and intellectual disability: possible causative role of gain-of-function of the inwardly-rectifying K+ channel Kir4.1.

scientific article published on 31 March 2011

Familial basilar migraine associated with a new mutation in the ATP1A2 gene

scientific article

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

scientific article published in May 2013

Friedreich's ataxia: oxidative stress and cytoskeletal abnormalities.

scientific article published on 12 September 2009

Ataxia with oculomotor apraxia type 2: a clinical, pathologic, and genetic study

scientific article published in April 2006

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

scientific article

The T9176G mtDNA mutation severely affects ATP production and results in Leigh syndrome

scientific article published in March 2001

Mitochondrial DNA haplogroups influence the therapeutic response to riboflavin in migraineurs.

scientific article

Maternally inherited cardiomyopathy: an atypical presentation of the mtDNA 12S rRNA gene A1555G mutation

scientific article published in January 1999

Somatic and germline mosaicisms in Severe Myoclonic Epilepsy of Infancy

scientific article published in 2006

Autosomal dominant external ophthalmoplegia and bipolar affective disorder associated with a mutation in the ANT1 gene.

scientific article

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

scientific article

Maternally inherited Leigh syndrome

scientific article published in March 1993

Clinical and genetic studies in hereditary spastic paraplegia with thin corpus callosum

article

Pontocerebellar hypoplasia type 6 caused by mutations in RARS2: definition of the clinical spectrum and molecular findings in five patients

scientific article published on 8 May 2012

Novel dynein DYNC1H1 neck and motor domain mutations link distal spinal muscular atrophy and abnormal cortical development

scientific article

Subcomplexes of human ATP synthase mark mitochondrial biosynthesis disorders

Spectrum of brain changes in patients with congenital muscular dystrophy and FKRP gene mutations

scientific article

Genetic heterogeneity of megalencephalic leukoencephalopathy and subcortical cysts

scientific article (publication date: 26 August 2003)

A Novel mtDNA Point Mutation in Maternally Inherited Cardiomyopathy

scientific article published on August 15, 1995

A novel ATP1A2 mutation in a family with FHM type II

scientific article

Drug consumption in medication overuse headache is influenced by brain-derived neurotrophic factor Val66Met polymorphism

scientific article

Fatal hypertrophic cardiomyopathy and nemaline myopathy associated with ACTA1 K336E mutation

scientific article published on 01 September 2006

A combined nucleic acid and protein analysis in Friedreich ataxia: implications for diagnosis, pathogenesis and clinical trial design

scientific article

Infantile ascending hereditary spastic paralysis (IAHSP): clinical features in 11 families

scientific article (publication date: 25 February 2003)

Multiple mtDNA deletions features in autosomal dominant and recessive diseases suggest distinct pathogeneses

scientific article published on 01 January 1998

Novel SACS mutations in autosomal recessive spastic ataxia of Charlevoix-Saguenay type

scientific article

The genetic basis of undiagnosed muscular dystrophies and myopathies: Results from 504 patients

scientific article published on 08 June 2016

A novel mutation in SACS gene in a family from southern Italy

scientific article

Epilepsy, Behavioral Abnormalities, and Physiological Comorbidities in Syntaxin-Binding Protein 1 (STXBP1) Mutant Zebrafish.

scientific article

POMT2 gene mutation in limb-girdle muscular dystrophy with inflammatory changes.

scientific article

List of works by Filippo Maria Santorelli

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

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

Hereditary spastic paraplegia: clinical-genetic characteristics and evolving molecular mechanisms

Identification of the SPG15 gene, encoding spastizin, as a frequent cause of complicated autosomal-recessive spastic paraplegia, including Kjellin syndrome

Alteration of fatty-acid-metabolizing enzymes affects mitochondrial form and function in hereditary spastic paraplegia

Methylmalonic and propionic aciduria

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

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

Reactive oxygen species, oxidative stress, and cell death correlate with level of CoQ10 deficiency

Supercomplexes and subcomplexes of mitochondrial oxidative phosphorylation

Mutations in SPG11 are frequent in autosomal recessive spastic paraplegia with thin corpus callosum, cognitive decline and lower motor neuron degeneration

Mitochondrial encephalomyopathy with coenzyme Q10 deficiency

Glutathione in blood of patients with Friedreich's ataxia.

A homoplasmic mitochondrial transfer ribonucleic acid mutation as a cause of maternally inherited hypertrophic cardiomyopathy

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

Identification of a Novel Mutation in the mtDNA ND5 Gene Associated with MELAS

Clinical and molecular features of mitochondrial DNA depletion due to mutations in deoxyguanosine kinase.

Functional assays in high-resolution clear native gels to quantify mitochondrial complexes in human biopsies and cell lines

Autism with seizures and intellectual disability: possible causative role of gain-of-function of the inwardly-rectifying K+ channel Kir4.1.

Familial basilar migraine associated with a new mutation in the ATP1A2 gene

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

Friedreich's ataxia: oxidative stress and cytoskeletal abnormalities.

Ataxia with oculomotor apraxia type 2: a clinical, pathologic, and genetic study

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

The T9176G mtDNA mutation severely affects ATP production and results in Leigh syndrome

Mitochondrial DNA haplogroups influence the therapeutic response to riboflavin in migraineurs.

Maternally inherited cardiomyopathy: an atypical presentation of the mtDNA 12S rRNA gene A1555G mutation

Somatic and germline mosaicisms in Severe Myoclonic Epilepsy of Infancy

Autosomal dominant external ophthalmoplegia and bipolar affective disorder associated with a mutation in the ANT1 gene.

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

Maternally inherited Leigh syndrome

Clinical and genetic studies in hereditary spastic paraplegia with thin corpus callosum

Pontocerebellar hypoplasia type 6 caused by mutations in RARS2: definition of the clinical spectrum and molecular findings in five patients

Novel dynein DYNC1H1 neck and motor domain mutations link distal spinal muscular atrophy and abnormal cortical development

Subcomplexes of human ATP synthase mark mitochondrial biosynthesis disorders

Spectrum of brain changes in patients with congenital muscular dystrophy and FKRP gene mutations

Genetic heterogeneity of megalencephalic leukoencephalopathy and subcortical cysts

A Novel mtDNA Point Mutation in Maternally Inherited Cardiomyopathy

A novel ATP1A2 mutation in a family with FHM type II

Drug consumption in medication overuse headache is influenced by brain-derived neurotrophic factor Val66Met polymorphism

Fatal hypertrophic cardiomyopathy and nemaline myopathy associated with ACTA1 K336E mutation

A combined nucleic acid and protein analysis in Friedreich ataxia: implications for diagnosis, pathogenesis and clinical trial design

Infantile ascending hereditary spastic paralysis (IAHSP): clinical features in 11 families

Multiple mtDNA deletions features in autosomal dominant and recessive diseases suggest distinct pathogeneses

Novel SACS mutations in autosomal recessive spastic ataxia of Charlevoix-Saguenay type

The genetic basis of undiagnosed muscular dystrophies and myopathies: Results from 504 patients

A novel mutation in SACS gene in a family from southern Italy

Epilepsy, Behavioral Abnormalities, and Physiological Comorbidities in Syntaxin-Binding Protein 1 (STXBP1) Mutant Zebrafish.

POMT2 gene mutation in limb-girdle muscular dystrophy with inflammatory changes.