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Supratentorial and pontine MRI abnormalities characterize recessive spastic ataxia of Charlevoix-Saguenay. A comprehensive study of an Italian series

European journal of neurology, 2013-01, Vol.20 (1), p.138-146

2013

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Clinical and molecular findings in children with complex I deficiency

Biochimica et biophysica acta, 2004-12, Vol.1659 (2), p.136-147

2004

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Fatigue and exercise intolerance in mitochondrial diseases. Literature revision and experience of the Italian Network of mitochondrial diseases

Neuromuscular disorders : NMD, 2012-12, Vol.22 (3-3), p.S226-S229

2012

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The effect of genotype on the natural history of eIF2B-related leukodystrophies

Neurology, 2004-05, Vol.62 (9), p.1509

2004

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

Neurology, 2004-05, Vol.62 (10), p.1882

2004

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GJA12 mutations in children with recessive hypomyelinating leukoencephalopathy

Neurology, 2006-07, Vol.67 (2), p.273

2006

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Novel mutations in COX15 in a long surviving Leigh syndrome patient with cytochrome c oxidase deficiency

Journal of medical genetics, 2005-05, Vol.42 (5), p.e28-e28

2005

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Identification of new mutations in the ETHE1 gene in a cohort of 14 patients presenting with ethylmalonic encephalopathy

Journal of medical genetics, 2008-07, Vol.45 (7), p.473-478

2008

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Early-onset LBSL: how severe does it get?

Neuropediatrics, 2012-12, Vol.43 (6), p.332

2012

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A scale to monitor progression and treatment of mitochondrial disease in children

Neuromuscular disorders : NMD, 2006-12, Vol.16 (12), p.814-820

2006

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Classification of Childhood White Matter Disorders Using Proton MR Spectroscopic Imaging

American journal of neuroradiology : AJNR, 2008-08, Vol.29 (7), p.1270-1275

2008

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Hemophagocytic lymphohistiocytosis with neurological presentation: MRI findings and a nearly miss diagnosis

Neurological sciences, 2011-06, Vol.32 (3), p.473-477

2011

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Granny trips down: is she carrying the big bad wolf?

Neurological sciences, 2013-11, Vol.34 (11), p.2077-2079

2013

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Epileptic phenotypes associated with mitochondrial disorders

Neurology, 2001-05, Vol.56 (10), p.1340

2001

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Ataxia with isolated vitamin E deficiency: neurological phenotype, clinical follow-up and novel mutations in TTPA gene in Italian families

Neurological sciences, 2004-07, Vol.25 (3), p.130-137

2004

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GFAP mutations and polymorphisms in 13 unrelated Italian patients affected by Alexander disease

Clinical genetics, 2007-11, Vol.72 (5), p.427-433

2007

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P23-14 Action myoclonus in sialidosis: a comparative study with Unverricht-Lundborg disease

Clinical neurophysiology, 2010, Vol.121, p.S242-S242

2010

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

Journal of neurology, neurosurgery and psychiatry, 1997-07, Vol.63 (1), p.16-22

1997

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Loss-of-function mutations of SURF-1 are specifically associated with Leigh syndrome with cytochrome c oxidase deficiency

Annals of neurology, 1999-08, Vol.46 (2), p.161-166

1999

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Genotype-phenotype correlation in five Pelizaeus-Merzbacher disease patients with PLP1 gene duplications

Clinical genetics, 2008-03, Vol.73 (3), p.279-287

2008

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Molecular analysis of 30 mucopolysaccharidosis type I patients: evaluation of the mutational spectrum in Italian population and identification of 13 novel mutations

Human mutation, 2002-09, Vol.20 (3), p.231-231

2002

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Borderline mental development in a congenital disorder of glycosylation (CDG) type Ia patient with multisystemic involvement (intermediate phenotype)

Journal of inherited metabolic disease, 2007-02, Vol.30 (1), p.107-107

2007

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Cerebral white matter involvement in children with mitochondrial encephalopathies

Neuropediatrics, 2002-04, Vol.33 (2), p.79

2002

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Effect of testosterone metabolites on ABC half-transporter relative gene expression in X-linked adrenoleukodystrophy

Journal of inherited metabolic disease, 2007-10, Vol.30 (5), p.828-828

2007

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Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation: clinical and genetic characterization and target for therapy

Brain (London, England : 1878), 2014-04, Vol.137 (Pt 4), p.1019-1029

2014

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Supratentorial and pontine MRI abnormalities characterize recessive spastic ataxia of Charlevoix-Saguenay. A comprehensive study of an Italian series

Clinical and molecular findings in children with complex I deficiency

Fatigue and exercise intolerance in mitochondrial diseases. Literature revision and experience of the Italian Network of mitochondrial diseases

The effect of genotype on the natural history of eIF2B-related leukodystrophies

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

GJA12 mutations in children with recessive hypomyelinating leukoencephalopathy

Novel mutations in COX15 in a long surviving Leigh syndrome patient with cytochrome c oxidase deficiency

Identification of new mutations in the ETHE1 gene in a cohort of 14 patients presenting with ethylmalonic encephalopathy

Early-onset LBSL: how severe does it get?

A scale to monitor progression and treatment of mitochondrial disease in children

Classification of Childhood White Matter Disorders Using Proton MR Spectroscopic Imaging

Hemophagocytic lymphohistiocytosis with neurological presentation: MRI findings and a nearly miss diagnosis

Granny trips down: is she carrying the big bad wolf?

Epileptic phenotypes associated with mitochondrial disorders

Ataxia with isolated vitamin E deficiency: neurological phenotype, clinical follow-up and novel mutations in TTPA gene in Italian families

GFAP mutations and polymorphisms in 13 unrelated Italian patients affected by Alexander disease

P23-14 Action myoclonus in sialidosis: a comparative study with Unverricht-Lundborg disease

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

Loss-of-function mutations of SURF-1 are specifically associated with Leigh syndrome with cytochrome c oxidase deficiency

Genotype-phenotype correlation in five Pelizaeus-Merzbacher disease patients with PLP1 gene duplications

Molecular analysis of 30 mucopolysaccharidosis type I patients: evaluation of the mutational spectrum in Italian population and identification of 13 novel mutations

Borderline mental development in a congenital disorder of glycosylation (CDG) type Ia patient with multisystemic involvement (intermediate phenotype)

Cerebral white matter involvement in children with mitochondrial encephalopathies

Effect of testosterone metabolites on ABC half-transporter relative gene expression in X-linked adrenoleukodystrophy

Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation: clinical and genetic characterization and target for therapy

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