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Late-onset oro-facial dyskinesia in Spinocerebellar Ataxia type 2: a case report

BMC neurology, 2020-04, Vol.20 (1), p.156-156, Article 156

2020

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Assessing the impact of copy number variants on miRNA genes in autism by Monte Carlo simulation

PloS one, 2014-03, Vol.9 (3), p.e90947-e90947

2014

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Archaeogenetics and Landscape Dynamics in Sicily during the Holocene: A Review

Sustainability, 2021-09, Vol.13 (17), p.9469

2021

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Autosomal recessive spino-cerebellar ataxia type 10 (SCAR10): clinical presentation associated with c.289delA ANO10 gene variant

Neurological sciences, 2024-03, Vol.45 (3), p.1283-1286

2024

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Fibroblast Growth Factor Receptor 2 (FGFR2), a New Gene Involved in the Genesis of Autism Spectrum Disorder

Neuromolecular medicine, 2023-12, Vol.25 (4), p.650-656

2023

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Dental anxiety in patients with borderline intellectual functioning and patients with intellectual disabilities

BMC oral health, 2016-11, Vol.16 (1), p.114-114, Article 114

2016

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TBC1D24 gene mRNA expression in a boy with early infantile epileptic encephalopathy-16

Acta neurologica Belgica, 2020-04, Vol.120 (2), p.381-383

2020

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An odd precocious case of progressive osseous heteroplasia

Italian journal of dermatology and venereology, 2021-06, Vol.156 (3), p.409

2021

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Specific Learning Disorders: Variation Analysis of 15 Candidate Genes in 9 Multiplex Families

Medicina (Kaunas, Lithuania), 2023-08, Vol.59 (8), p.1503

2023

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Identification of human D lactate dehydrogenase deficiency

Nature communications, 2019-04, Vol.10 (1), p.1477-1477, Article 1477

2019

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A de novo heterozygous mutation in KCNC2 gene implicated in severe developmental and epileptic encephalopathy

European journal of medical genetics, 2020-04, Vol.63 (4), p.103848-103848, Article 103848

2020

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Implementation of Sample Pooling Procedure Using a Rapid SARS-CoV-2 Diagnostic Real-Time PCR Test Performed Prior to Hospital Admission of People with Intellectual Disabilities

International journal of environmental research and public health, 2021-09, Vol.18 (17), p.9317

2021

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Novel compound heterozygous mutation in NPC1 gene cause Niemann–Pick disease type C with juvenile onset

Journal of genetics, 2020-12, Vol.99 (1), Article 30

2020

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GRIN2A: involvement in movement disorders and intellectual disability without seizures

Neurological sciences, 2019-11, Vol.40 (11), p.2405-2406

2019

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Mutations in ACTL6B, coding for a subunit of the neuron-specific chromatin remodeling complex nBAF, cause early onset severe developmental and epileptic encephalopathy with brain hypomyelination and cerebellar atrophy

Human genetics, 2019-02, Vol.138 (2), p.187-198

2019

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Letter to the Editor Regarding the Article "Whole-Exome Sequencing in NF1-Related West's Syndrome Leads to the Identification of KCNC2 as a Novel Candidate Gene for Epilepsy"

Neuropediatrics, 2021-04, Vol.52 (2), p.153

2021

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Aninteresting case of Piebaldism with café-au-lait macules and freckling: the use of targeted next-generation sequencing for molecular diagnosis

EJD. European journal of dermatology, 2018-01, Vol.28 (1), p.119-120

2018

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Identification of a Novel Missense Mutation of POLR3A Gene in a Cohort of Sicilian Patients with Leukodystrophy

Biomedicines, 2022-09, Vol.10 (9), p.2276

2022

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A Novel Homozygous ALG12 Mutation in a Patient with CDG Type Ig: New Report of a Case with a Mild Phenotype

Molecular syndromology, 2021-08, Vol.12 (5), p.327-332

2021

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Exome sequencing in a child with neurodevelopmental disorder and epilepsy: Variant analysis of the AHNAK2 gene

Molecular genetics & genomic medicine, 2022-09, Vol.10 (9), p.e2012-n/a

2022

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Phylogeographic Analysis of Haplogroup E3b (E-M215) Y Chromosomes Reveals Multiple Migratory Events Within and Out Of Africa

American journal of human genetics, 2004-05, Vol.74 (5), p.1014-1022

2004

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Interpreting Genetic Variants: Hints from a Family Cluster of Parkinson's Disease

Journal of Parkinson's disease, 2019-01, Vol.9 (1), p.203

2019

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Mutation spectrum of NF1 gene in Italian patients with neurofibromatosis type 1 using Ion Torrent PGM™ platform

European journal of medical genetics, 2017-02, Vol.60 (2), p.93-99

2017

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Functional Annotation of Genes Overlapping Copy Number Variants in Autistic Patients: Focus on Axon Pathfinding

Current genomics, 2010-04, Vol.11 (2), p.136-145

2010

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Whole Exome Sequencing as a First-Line Molecular Genetic Test in Developmental and Epileptic Encephalopathies

International journal of molecular sciences, 2024-01, Vol.25 (2), p.1146

2024

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Late-onset oro-facial dyskinesia in Spinocerebellar Ataxia type 2: a case report

Assessing the impact of copy number variants on miRNA genes in autism by Monte Carlo simulation

Archaeogenetics and Landscape Dynamics in Sicily during the Holocene: A Review

Autosomal recessive spino-cerebellar ataxia type 10 (SCAR10): clinical presentation associated with c.289delA ANO10 gene variant

Fibroblast Growth Factor Receptor 2 (FGFR2), a New Gene Involved in the Genesis of Autism Spectrum Disorder

Dental anxiety in patients with borderline intellectual functioning and patients with intellectual disabilities

TBC1D24 gene mRNA expression in a boy with early infantile epileptic encephalopathy-16

An odd precocious case of progressive osseous heteroplasia

Specific Learning Disorders: Variation Analysis of 15 Candidate Genes in 9 Multiplex Families

Identification of human D lactate dehydrogenase deficiency

A de novo heterozygous mutation in KCNC2 gene implicated in severe developmental and epileptic encephalopathy

Implementation of Sample Pooling Procedure Using a Rapid SARS-CoV-2 Diagnostic Real-Time PCR Test Performed Prior to Hospital Admission of People with Intellectual Disabilities

Novel compound heterozygous mutation in NPC1 gene cause Niemann–Pick disease type C with juvenile onset

GRIN2A: involvement in movement disorders and intellectual disability without seizures

Mutations in ACTL6B, coding for a subunit of the neuron-specific chromatin remodeling complex nBAF, cause early onset severe developmental and epileptic encephalopathy with brain hypomyelination and cerebellar atrophy

Letter to the Editor Regarding the Article "Whole-Exome Sequencing in NF1-Related West's Syndrome Leads to the Identification of KCNC2 as a Novel Candidate Gene for Epilepsy"

Aninteresting case of Piebaldism with café-au-lait macules and freckling: the use of targeted next-generation sequencing for molecular diagnosis

Identification of a Novel Missense Mutation of POLR3A Gene in a Cohort of Sicilian Patients with Leukodystrophy

A Novel Homozygous ALG12 Mutation in a Patient with CDG Type Ig: New Report of a Case with a Mild Phenotype

Exome sequencing in a child with neurodevelopmental disorder and epilepsy: Variant analysis of the AHNAK2 gene

Phylogeographic Analysis of Haplogroup E3b (E-M215) Y Chromosomes Reveals Multiple Migratory Events Within and Out Of Africa

Interpreting Genetic Variants: Hints from a Family Cluster of Parkinson's Disease

Mutation spectrum of NF1 gene in Italian patients with neurofibromatosis type 1 using Ion Torrent PGM™ platform

Functional Annotation of Genes Overlapping Copy Number Variants in Autistic Patients: Focus on Axon Pathfinding

Whole Exome Sequencing as a First-Line Molecular Genetic Test in Developmental and Epileptic Encephalopathies

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