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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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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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Neurodegeneration associated with genetic defects in phospholipase A(2)

Neurology, 2008-10, Vol.71 (18), p.1402

2008

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Early white matter involvement in an infant carrying a novel mutation in ACOX1

European journal of paediatric neurology, 2016-05, Vol.20 (3), p.431-434

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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The role of muscle biopsy in investigating isolated muscle pain

Neurology, 2007-01, Vol.68 (3), p.181-186

2007

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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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OP48 – 2893: The DEM-CHILD NCL Patient Database: A tool for the evaluation of therapies in neuronal ceroid lipofuscinoses (NCL)

European journal of paediatric neurology, 2015-05, Vol.19, p.S16-S16

2015

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Sarcoidosis and inclusion body myositis

Rheumatology (Oxford, England), 2008-09, Vol.47 (9), p.1433-1435

2008

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Age and sex prevalence estimate of Joubert syndrome in Italy

Neurology, 2020-02, Vol.94 (8)

2020

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Congenital myopathies: clinical phenotypes and new diagnostic tools

Italian journal of pediatrics, 2017-11, Vol.43 (1), p.101-101, Article 101

2017

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Diagnosis and misdiagnosis of adult neuronal ceroid lipofuscinosis (Kufs disease)

Neurology, 2016-08, Vol.87 (6), p.579-584

2016

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Dementia, delusions and seizures: storage disease or genetic AD?

European journal of neurology, 2007-09, Vol.14 (9), p.1057-1059

2007

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MELAS: clinical phenotype and morphological brain abnormalities

Acta neuropathologica, 2003-09, Vol.106 (3), p.202-212

2003

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Revelation of a novel CLN5 mutation in early juvenile neuronal ceroid lipofuscinosis

Neuropediatrics, 2007-02, Vol.38 (1), p.46-49

2007

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No mutation in the TRKA (NTRK1) gene encoding a receptor tyrosine kinase for nerve growth factor in a patient with hereditary sensory and autonomic neuropathy type V

Annals of neurology, 2002-08, Vol.52 (2), p.224-227

2002

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Availability, accessibility and delivery to patients of the 28 orphan medicines approved by the European Medicine Agency for hereditary metabolic diseases in the MetabERN network

Orphanet journal of rare diseases, 2020-01, Vol.15 (1), p.3-3, Article 3

2020

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Infantile hepatocerebral syndromes associated with mutations in the mitochondrial DNA polymerase-γA

Brain (London, England : 1878), 2005-04, Vol.128 (4), p.723-731

2005

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Focally folded myelin in Charcot-Marie-Tooth neuropathy type 1B with Ser49Leu in the myelin protein zero

Acta neuropathologica, 2000-09, Vol.100 (3), p.299-304

2000

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A novel missense mutation in the L1CAM gene in a boy with L1 disease

Neurological sciences, 2006-06, Vol.27 (2), p.114-117

2006

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Genetic mapping of a susceptibility locus for disc herniation and spastic paraplegia on 6q23.3-q24.1

Journal of medical genetics, 2002-06, Vol.39 (6), p.387-390

2002

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Pontine Tegmental Cap Dysplasia: developmental and cognitive outcome in three adolescent patients

Orphanet journal of rare diseases, 2011-06, Vol.6 (1), p.36-36, Article 36

2011

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Dandy-Walker malformation and Wisconsin syndrome: novel cases add further insight into the genotype-phenotype correlations of 3q23q25 deletions

Orphanet journal of rare diseases, 2013-05, Vol.8 (1), p.75-75, Article 75

2013

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Novel mutation of the P0 extracellular domain causes a Déjérine-Sottas syndrome

Journal of neurology, neurosurgery and psychiatry, 1999-03, Vol.66 (3), p.386-389

1999

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

Neuronal Ceroid Lipofuscinosis: The Increasing Spectrum of an Old Disease

Neurodegeneration associated with genetic defects in phospholipase A(2)

Early white matter involvement in an infant carrying a novel mutation in ACOX1

Pontocerebellar hypoplasia: clinical, pathologic, and genetic studies

The role of muscle biopsy in investigating isolated muscle pain

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

OP48 – 2893: The DEM-CHILD NCL Patient Database: A tool for the evaluation of therapies in neuronal ceroid lipofuscinoses (NCL)

Sarcoidosis and inclusion body myositis

Age and sex prevalence estimate of Joubert syndrome in Italy

Congenital myopathies: clinical phenotypes and new diagnostic tools

Broad phenotypic spectrum and genotype-phenotype correlations in GMPPB-related dystroglycanopathies: an Italian cross-sectional study

Diagnosis and misdiagnosis of adult neuronal ceroid lipofuscinosis (Kufs disease)

Dementia, delusions and seizures: storage disease or genetic AD?

MELAS: clinical phenotype and morphological brain abnormalities

Revelation of a novel CLN5 mutation in early juvenile neuronal ceroid lipofuscinosis

No mutation in the TRKA (NTRK1) gene encoding a receptor tyrosine kinase for nerve growth factor in a patient with hereditary sensory and autonomic neuropathy type V

Availability, accessibility and delivery to patients of the 28 orphan medicines approved by the European Medicine Agency for hereditary metabolic diseases in the MetabERN network

Infantile hepatocerebral syndromes associated with mutations in the mitochondrial DNA polymerase-γA

Focally folded myelin in Charcot-Marie-Tooth neuropathy type 1B with Ser49Leu in the myelin protein zero

A novel missense mutation in the L1CAM gene in a boy with L1 disease

Genetic mapping of a susceptibility locus for disc herniation and spastic paraplegia on 6q23.3-q24.1

Pontine Tegmental Cap Dysplasia: developmental and cognitive outcome in three adolescent patients

Dandy-Walker malformation and Wisconsin syndrome: novel cases add further insight into the genotype-phenotype correlations of 3q23q25 deletions

Novel mutation of the P0 extracellular domain causes a Déjérine-Sottas syndrome

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