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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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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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Pseudodominant inheritance of spastic ataxia of Charlevoix-Saguenay

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

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

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

2001

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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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G.P.3.08 Myoclonic epilepsy, cortical dysplasia and mitochondrial complex I deficiency: A case report

Neuromuscular disorders : NMD, 2009-09, Vol.19 (8), p.563-564

2009

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T.N.5 PROGRESSIVE FAMILIAL INTRAHEPATIC CHOLESTASIS: DETECTION OF NEW MUTATIONS AND UNUSUAL MODALITY OF TRANSMISSION

Digestive and liver disease, 2010, Vol.42, p.S16-S16

2010

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Fatal hypertrophic cardiomyopathy and nemaline myopathy associated with ACTA1 K336E mutation

Journal of molecular and cellular cardiology, 2007-06, Vol.42 (6), p.S73-S73

2007

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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

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

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

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

G.O.7

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

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

G.P.3.08 Myoclonic epilepsy, cortical dysplasia and mitochondrial complex I deficiency: A case report

T.N.5 PROGRESSIVE FAMILIAL INTRAHEPATIC CHOLESTASIS: DETECTION OF NEW MUTATIONS AND UNUSUAL MODALITY OF TRANSMISSION

Fatal hypertrophic cardiomyopathy and nemaline myopathy associated with ACTA1 K336E mutation

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