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10q23.31 microduplication encompassing PTEN decreases mTOR signalling activity and is associated with autosomal dominant primary microcephaly

Journal of medical genetics, 2019-08, Vol.56 (8), p.543-547

2019

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PDGF Family Expression in Glioblastoma Multiforme: Data Compilation from Ivy Glioblastoma Atlas Project Database

Scientific reports, 2017-11, Vol.7 (1), p.15271-9, Article 15271

2017

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A commentary on band-like calcification with simplified gyration and polymicrogyria: report of 10 new families and identification of five novel OCLN mutations

Journal of human genetics, 2018-02, Vol.63 (2), p.255-256

2018

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Quantification of CSF biomarkers using an electrochemiluminescence-based detection system in the differential diagnosis of AD and sCJD

Journal of neurology, 2015-10, Vol.262 (10), p.2305-2311

2015

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A commentary on a case of new PCDH12 gene variants presented as dyskinetic cerebral palsy with epilepsy

Journal of human genetics, 2018-08, Vol.63 (8), p.863-864

2018

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Non-lethal Raine Syndrome Report Lacking Characteristic Clinical Features

Journal of molecular neuroscience, 2021-12, Vol.71 (12), p.2482-2486

2021

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Why Is There No PiT1/SLC20A1 Pathogenic Variants Yet Linked to Primary Familial Brain Calcification?

Journal of bone and mineral research, 2020-04, Vol.35 (4), p.823-824

2020

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Digenic Variants as Possible Clinical Modifier of Primary Familial Brain Calcification Patients

Journal of molecular neuroscience, 2020, Vol.70 (1), p.142-144

2020

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Exploring the Genetic Predisposition to Zika Virus Congenital Syndrome

The Journal of infectious diseases, 2020-08, Vol.222 (6), p.1062-1063

2020

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Brain calcification process and phenotypes according to age and sex: Lessons from SLC20A2, PDGFB, and PDGFRB mutation carriers

American journal of medical genetics. Part B, Neuropsychiatric genetics, 2015-10, Vol.168B (7), p.586-594

2015

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Reconsidering the Association Between the Major Histocompatibility Complex and Bipolar Disorder

Journal of molecular neuroscience, 2012-05, Vol.47 (1), p.26-30

2012

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Loss of Function of Slc20a2 Associated with Familial Idiopathic Basal Ganglia Calcification in Humans Causes Brain Calcifications in Mice

Journal of molecular neuroscience, 2013-11, Vol.51 (3), p.994-999

2013

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MiR-9-5p Regulates Genes Linked to Cerebral Calcification in the Osteogenic Differentiation Model and Induces Generalized Alteration in the Ion Channels

Journal of molecular neuroscience, 2021-09, Vol.71 (9), p.1897-1905

2021

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The Need for Consensus on Primary Familial Brain Calcification Nomenclature

The journal of neuropsychiatry and clinical neurosciences, 2018-10, Vol.30 (4), p.291-293

2018

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The Master of Puppets: Pleiotropy of PDGFRB and its Relationship to Multiple Diseases

Journal of molecular neuroscience, 2020-12, Vol.70 (12), p.2102-2106

2020

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Lack of Major Ophthalmic Findings in Patients with Primary Familial Brain Calcification Linked to SLC20A2 and PDGFB

Journal of molecular neuroscience, 2019-03, Vol.67 (3), p.441-444

2019

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Familial idiopathic basal ganglia calcification: rediscovering an old challenge in organic psychiatric disorders

Revista brasileira de psiquiatria, 2013-09, Vol.35 (3), p.219-220

2013

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Identification of partial SLC20A2 deletions in primary brain calcification using whole-exome sequencing

European journal of human genetics : EJHG, 2016-11, Vol.24 (11), p.1630-1634

2016

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Calcitriol Reverses the Down-Regulation Pattern of Tuberous Sclerosis Complex Genes in an In Vitro Calcification Model

Journal of molecular neuroscience, 2018-01, Vol.64 (1), p.140-143

2018

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Basal ganglia calcification as a putative cause for cognitive decline

Dementia & neuropsychologia, 2013-06, Vol.7 (2), p.151-154

2013

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Exploring the Biological Overlapping Between Brain Calcifications and Tumorgenesis

Journal of molecular neuroscience, 2024-05, Vol.74 (2), p.54, Article 54

2024

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Depicting Depersonalization Disorder

The American journal of psychiatry, 2013-03, Vol.170 (3), p.263-264

2013

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New Evidence Suggests a Much Complex Classification for the Genetic Pattern of Inheritance in Primary Brain Calcification

Journal of molecular neuroscience, 2023-08, Vol.73 (7-8), p.563-565

2023

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Challenging the concept of diffuse neurofibrillary tangles with calcification (Kosaka–Shibayama disease)

Psychiatry and clinical neurosciences, 2017-01, Vol.71 (1), p.70-70

2017

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Microangiopathy in primary familial brain calcification: Evidence from skin biopsies

Neurology. Genetics, 2017-04, Vol.3 (2), p.e134-e134

2017

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10q23.31 microduplication encompassing PTEN decreases mTOR signalling activity and is associated with autosomal dominant primary microcephaly

PDGF Family Expression in Glioblastoma Multiforme: Data Compilation from Ivy Glioblastoma Atlas Project Database

A commentary on band-like calcification with simplified gyration and polymicrogyria: report of 10 new families and identification of five novel OCLN mutations

Quantification of CSF biomarkers using an electrochemiluminescence-based detection system in the differential diagnosis of AD and sCJD

A commentary on a case of new PCDH12 gene variants presented as dyskinetic cerebral palsy with epilepsy

Non-lethal Raine Syndrome Report Lacking Characteristic Clinical Features

Why Is There No PiT1/SLC20A1 Pathogenic Variants Yet Linked to Primary Familial Brain Calcification?

Digenic Variants as Possible Clinical Modifier of Primary Familial Brain Calcification Patients

Exploring the Genetic Predisposition to Zika Virus Congenital Syndrome

Brain calcification process and phenotypes according to age and sex: Lessons from SLC20A2, PDGFB, and PDGFRB mutation carriers

Reconsidering the Association Between the Major Histocompatibility Complex and Bipolar Disorder

Loss of Function of Slc20a2 Associated with Familial Idiopathic Basal Ganglia Calcification in Humans Causes Brain Calcifications in Mice

MiR-9-5p Regulates Genes Linked to Cerebral Calcification in the Osteogenic Differentiation Model and Induces Generalized Alteration in the Ion Channels

The Need for Consensus on Primary Familial Brain Calcification Nomenclature

The Master of Puppets: Pleiotropy of PDGFRB and its Relationship to Multiple Diseases

Lack of Major Ophthalmic Findings in Patients with Primary Familial Brain Calcification Linked to SLC20A2 and PDGFB

Familial idiopathic basal ganglia calcification: rediscovering an old challenge in organic psychiatric disorders

Identification of partial SLC20A2 deletions in primary brain calcification using whole-exome sequencing

Calcitriol Reverses the Down-Regulation Pattern of Tuberous Sclerosis Complex Genes in an In Vitro Calcification Model

Basal ganglia calcification as a putative cause for cognitive decline

Exploring the Biological Overlapping Between Brain Calcifications and Tumorgenesis

Depicting Depersonalization Disorder

New Evidence Suggests a Much Complex Classification for the Genetic Pattern of Inheritance in Primary Brain Calcification

Challenging the concept of diffuse neurofibrillary tangles with calcification (Kosaka–Shibayama disease)

Microangiopathy in primary familial brain calcification: Evidence from skin biopsies

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