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Integrative human and murine multi-omics: Highlighting shared biomarkers in the neuronal ceroid lipofuscinoses

Neurobiology of disease, 2023-12, Vol.189, p.106349-106349, Article 106349

2023

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

Human mutation, 2008-02, Vol.29 (2), p.330-331

2008

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Hereditary spastic paraplegia: Novel mutations and expansion of the phenotype variability in SPG56

European journal of paediatric neurology, 2016-05, Vol.20 (3), p.444-448

2016

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Neuronal Ceroid Lipofuscinosis: The Increasing Spectrum of an Old Disease

Current molecular medicine, 2014-10, Vol.14 (8), p.1043-1051

2014

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6. Glutamate Receptor Ionotropic AMPA 3 (GRIA3) gene polymorphism influences cortical response to somatosensory stimulation in medication-overuse headache patients

Clinical neurophysiology, 2016-12, Vol.127 (12), p.e324-e324

2016

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45. Clinical and electrophysiological non-SPG4 spectrum of HSP

Clinical neurophysiology, 2015-01, Vol.126 (1), p.e11-e11

2015

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Respiratory and cardiac function in congenital muscular dystrophies with alpha dystroglycan deficiency

Neuromuscular disorders : NMD, 2012-08, Vol.22 (8), p.685-689

2012

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Impaired neuronal connectivity as dysregulated cellular function in CLN1 disease: A pathogenetic prediction by RNAseq analysis

European journal of paediatric neurology, 2017-06, Vol.21, p.e129-e129

2017

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Bridging Over the Troubled Heterogeneity of SPG-Related Pathologies: Mechanisms Unite What Genetics Divide

Current molecular medicine, 2014-01, Vol.14 (8), p.1034-1042

2014

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Metabolic Ataxias in Adults

Current molecular medicine, 2014-01, Vol.14 (8), p.959-970

2014

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Pseudodominant inheritance of spastic ataxia of Charlevoix-Saguenay

Neurology, 2010-04, Vol.74 (14), p.1152-1154

2010

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POMT1 and POMT2 mutations in CMD patients: A multicentric Italian study

Neuromuscular disorders : NMD, 2008-07, Vol.18 (7), p.565-571

2008

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The wolframin His611Arg polymorphism influences medication overuse headache

Neuroscience letters, 2007-09, Vol.424 (3), p.179-184

2007

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P.1.11 Development of a registry and a database for a nation-wide Italian collaborative network on congenital muscular dystrophy

Neuromuscular disorders : NMD, 2013-10, Vol.23 (9), p.744-745

2013

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P.9.9 A novel de novo mutation in ACTA1 causes a congenital myopathy with misleading type 1 fiber predominance and a peculiar MRI

Neuromuscular disorders : NMD, 2013-10, Vol.23 (9), p.786-786

2013

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Early-onset progressive ataxia associated with the first CACNA1A mutation identified within the I–II loop

Journal of the neurological sciences, 2007-03, Vol.254 (1), p.69-71

2007

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P1.57 Neuropsychological profiles in children with Duchenne muscular dystrophy compared to dyslexic population

Neuromuscular disorders : NMD, 2011-10, Vol.21 (9), p.658-659

2011

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

Neurology, 2001-03, Vol.56 (5), p.687-690

2001

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P.9.15 Centronuclear myopathies: The experience of Italian Network for congenital myopathies

Neuromuscular disorders : NMD, 2013-10, Vol.23 (9), p.788-788

2013

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G.O.7

Neuromuscular disorders : NMD, 2014-10, Vol.24 (9), p.851-851

2014

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263 PATERNAL ISODISOMY FOR CHROMOSOME 2 AS CAUSE OF BILE SALT EXPORT PUMP (BSEP) DEFICIENCY

Journal of hepatology, 2009, Vol.50, p.S105-S105

2009

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Clinical and genetic features of dominant Essential Tremor in Tuscany, Italy: FUS, CAMTA1, ATXN1 and beyond

Journal of the neurological sciences, 2024-05, Vol.460, p.123012, Article 123012

2024

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G.P.3.02 Late-onset MNGIE without peripheral neuropathy due to incomplete loss of thymidine phosphorylase activity

Neuromuscular disorders : NMD, 2009-09, Vol.19 (8), p.561-562

2009

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EM.P.2.05 Congenital muscular dystrophy with defective α-dystroglycan glycosylation, cerebellar hypoplasia and severe epilepsy

Neuromuscular disorders : NMD, 2009-09, Vol.19 (8), p.553-553

2009

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EM.P.2.12 Walker-Warburg syndrome: LARGE mutation in two sibs. The difficulty of prenatal diagnosis

Neuromuscular disorders : NMD, 2009-09, Vol.19 (8), p.555-555

2009

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Integrative human and murine multi-omics: Highlighting shared biomarkers in the neuronal ceroid lipofuscinoses

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

Hereditary spastic paraplegia: Novel mutations and expansion of the phenotype variability in SPG56

Neuronal Ceroid Lipofuscinosis: The Increasing Spectrum of an Old Disease

6. Glutamate Receptor Ionotropic AMPA 3 (GRIA3) gene polymorphism influences cortical response to somatosensory stimulation in medication-overuse headache patients

45. Clinical and electrophysiological non-SPG4 spectrum of HSP

Respiratory and cardiac function in congenital muscular dystrophies with alpha dystroglycan deficiency

Impaired neuronal connectivity as dysregulated cellular function in CLN1 disease: A pathogenetic prediction by RNAseq analysis

Bridging Over the Troubled Heterogeneity of SPG-Related Pathologies: Mechanisms Unite What Genetics Divide

Metabolic Ataxias in Adults

Pseudodominant inheritance of spastic ataxia of Charlevoix-Saguenay

POMT1 and POMT2 mutations in CMD patients: A multicentric Italian study

The wolframin His611Arg polymorphism influences medication overuse headache

P.1.11 Development of a registry and a database for a nation-wide Italian collaborative network on congenital muscular dystrophy

P.9.9 A novel de novo mutation in ACTA1 causes a congenital myopathy with misleading type 1 fiber predominance and a peculiar MRI

Early-onset progressive ataxia associated with the first CACNA1A mutation identified within the I–II loop

P1.57 Neuropsychological profiles in children with Duchenne muscular dystrophy compared to dyslexic population

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

P.9.15 Centronuclear myopathies: The experience of Italian Network for congenital myopathies

G.O.7

263 PATERNAL ISODISOMY FOR CHROMOSOME 2 AS CAUSE OF BILE SALT EXPORT PUMP (BSEP) DEFICIENCY

Clinical and genetic features of dominant Essential Tremor in Tuscany, Italy: FUS, CAMTA1, ATXN1 and beyond

G.P.3.02 Late-onset MNGIE without peripheral neuropathy due to incomplete loss of thymidine phosphorylase activity

EM.P.2.05 Congenital muscular dystrophy with defective α-dystroglycan glycosylation, cerebellar hypoplasia and severe epilepsy

EM.P.2.12 Walker-Warburg syndrome: LARGE mutation in two sibs. The difficulty of prenatal diagnosis

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