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A nationwide survey of PMM2-CDG in Italy: high frequency of a mild neurological variant associated with the L32R mutation

Journal of neurology, 2015-01, Vol.262 (1), p.154-164

2015

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Phenotypic variability, neurological outcome and genetics background of 6-pyruvoyl-tetrahydropterin synthase deficiency

Clinical genetics, 2010-03, Vol.77 (3), p.249-257

2010

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25. Attentional dysfunctions in Ataxia-teleangectasia: A psychophysiological study

Clinical neurophysiology, 2016-12, Vol.127 (12), p.e329-e329

2016

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Pontocerebellar hypoplasia: clinical, pathologic, and genetic studies

Neurology, 2010-10, Vol.75 (16), p.1459-1464

2010

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GAMT deficiency: features, treatment, and outcome in an inborn error of creatine synthesis

Neurology, 2006-08, Vol.67 (3), p.480-484

2006

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Autosomal dominant GTP-CH deficiency presenting as a dopa-responsive myoclonus-dystonia syndrome

Neurology, 2002-10, Vol.59 (8), p.1241-1243

2002

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

Neurology, 2004-01, Vol.62 (1), p.103-106

2004

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Vigabatrin improves paroxysmal dystonia in succinic semialdehyde dehydrogenase deficiency

Neurology, 2007-04, Vol.68 (16), p.1320-1321

2007

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Early-onset encephalopathy and cortical myoclonus in a boy with MECP2 gene mutation

Neurology, 2004-11, Vol.63 (10), p.1968-1970

2004

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

Neurology, 2003-02, Vol.60 (4), p.674-682

2003

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Data monitoring roadmap. The experience of the Italian Multiple Sclerosis and Related Disorders Register

Neurological sciences, 2023-11, Vol.44 (11), p.4001-4011

2023

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Phenotypic spectrum and prevalence of INPP5E mutations in Joubert syndrome and related disorders

European journal of human genetics : EJHG, 2013-10, Vol.21 (10), p.1074-1078

2013

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Ataxia, deafness, leukodystrophy: Inherited disorder of the white matter in three related patients

Neurology, 2000-06, Vol.54 (12), p.2325-2328

2000

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LHON mutations in Italian patients affected by multiple sclerosis

Acta neurologica Scandinavica, 1997-09, Vol.96 (3), p.145-148

1997

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Mitochondrial neurogastrointestinal encephalomyopathy: novel pathogenic mutations in thymidine phosphorylase gene in two Italian brothers

Neuropediatrics, 2012-08, Vol.43 (4), p.201-208

2012

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O1 – 1990 Clinical spectrum of dopamine transporter deficiency syndrome: from infantile parkinsonism-dystonia to juvenile parkinsonism

European journal of paediatric neurology, 2013-09, Vol.17, p.S1-S1

2013

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Hemiplegic dystonia associated with regional cortical dysplasia (pachygyria)

Movement disorders, 1993, Vol.8 (2), p.242-244

1993

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Neurological and cytogenetic study in early-onset ataxia-telangiectasia patients

European journal of pediatrics, 1993-07, Vol.152 (7), p.609-612

1993

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Bilateral striatal necrosis, dystonia and optic atrophy in two siblings

Journal of neurology, neurosurgery and psychiatry, 1992-01, Vol.55 (1), p.16-19

1992

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Tyrosine hydroxylase deficiency with severe clinical course: Clinical and biochemical investigations and optimization of therapy

The Journal of pediatrics, 2000-04, Vol.136 (4), p.560-562

2000

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Screening of mtDNA mutations in Italian LHON pedigrees

Journal of inherited metabolic disease, 1996-01, Vol.19 (2), p.127-129

1996

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A nationwide survey of PMM2-CDG in Italy: high frequency of a mild neurological variant associated with the L32R mutation

Phenotypic variability, neurological outcome and genetics background of 6-pyruvoyl-tetrahydropterin synthase deficiency

25. Attentional dysfunctions in Ataxia-teleangectasia: A psychophysiological study

Pontocerebellar hypoplasia: clinical, pathologic, and genetic studies

GAMT deficiency: features, treatment, and outcome in an inborn error of creatine synthesis

Autosomal dominant GTP-CH deficiency presenting as a dopa-responsive myoclonus-dystonia syndrome

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

Vigabatrin improves paroxysmal dystonia in succinic semialdehyde dehydrogenase deficiency

Early-onset encephalopathy and cortical myoclonus in a boy with MECP2 gene mutation

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

Tyrosine hydroxylase deficiency: a treatable disorder of brain catecholamine biosynthesis

Data monitoring roadmap. The experience of the Italian Multiple Sclerosis and Related Disorders Register

Phenotypic spectrum and prevalence of INPP5E mutations in Joubert syndrome and related disorders

Ataxia, deafness, leukodystrophy: Inherited disorder of the white matter in three related patients

LHON mutations in Italian patients affected by multiple sclerosis

Mitochondrial neurogastrointestinal encephalomyopathy: novel pathogenic mutations in thymidine phosphorylase gene in two Italian brothers

O1 – 1990 Clinical spectrum of dopamine transporter deficiency syndrome: from infantile parkinsonism-dystonia to juvenile parkinsonism

Hemiplegic dystonia associated with regional cortical dysplasia (pachygyria)

Neurological and cytogenetic study in early-onset ataxia-telangiectasia patients

Bilateral striatal necrosis, dystonia and optic atrophy in two siblings

Tyrosine hydroxylase deficiency with severe clinical course: Clinical and biochemical investigations and optimization of therapy

Screening of mtDNA mutations in Italian LHON pedigrees

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