about
Mutations in XPR1 cause primary familial brain calcification associated with altered phosphate exportBrain Calcifications in Adult-Onset Genetic Leukoencephalopathies: A Review.Update and Mutational Analysis of SLC20A2: A Major Cause of Primary Familial Brain Calcification.Deletion of exons 9 and 10 of the Presenilin 1 gene in a patient with Early-onset Alzheimer Disease generates longer amyloid seeds.From Common to Rare Variants: The Genetic Component of Alzheimer Disease.17q21.31 duplication causes prominent tau-related dementia with increased MAPT expression.XPR1 mutations are a rare cause of primary familial brain calcification.Brain calcification process and phenotypes according to age and sex: Lessons from SLC20A2, PDGFB, and PDGFRB mutation carriers.Mutations in the gene encoding PDGF-B cause brain calcifications in humans and mice.Deciphering the causes of sporadic late-onset cerebellar ataxias: a prospective study with implications for diagnostic work.Estimation of minimal disease prevalence from population genomic data: Application to primary familial brain calcification.Alzheimer disease: modeling an Aβ-centered biological network.Differential Diagnosis of Dementia with High Levels of Cerebrospinal Fluid Tau Protein.De novo deleterious genetic variations target a biological network centered on Aβ peptide in early-onset Alzheimer disease.Clinical and pathologic features of Aicardi-Goutières syndrome due to an IFIH1 mutation: A pediatric case report.Primary brain calcification: an international study reporting novel variants and associated phenotypesDe l’identification des bases moléculaires des calcifications cérébrales primaires aux mécanismes physiopathologiques : de nouvelles étapesImproving Significance in Association Studies: a New Perspective for Association Studies Submitted to the Journal of Molecular NeuroscienceJuvenile Huntington disease in an 18-month-old boy revealed by global developmental delay and reduced cerebellar volumeWhole exome sequencing study identifies novel rare and common Alzheimer’s-Associated variants involved in immune response and transcriptional regulationCharacterization of XPR1/SLC53A1 variants located outside of the SPX domain in patients with primary familial brain calcificationThe role of de novo mutations in adult-onset neurodegenerative disorders.Exome sequencing identifies the first genetic determinants of sirenomelia in humansRare genetic susceptibility variants assessment in autism spectrum disorder: detection rate and practical useCorrection: Whole exome sequencing study identifies novel rare and common Alzheimer's-Associated variants involved in immune response and transcriptional regulationReply: New homozygous indel in MYORG linked to brain calcification, thyroidopathy and neuropathySignificant contribution of intragenic deletions to ARID1B mutation spectrumConfirmation and further delineation of the SMG9-deficiency syndrome, a rare and severe developmental disorderSORL1 genetic variants and Alzheimer disease risk: a literature review and meta-analysis of sequencing dataInterplay between PFBC-associated SLC20A2 and XPR1 phosphate transporters requires inositol polyphosphates for control of cellular phosphate homeostasisHaploinsufficiency of the Primary Familial Brain Calcification Gene SLC20A2 Mediated by Disruption of a Regulatory Element
P50
Q30397541-431F2DB5-CE06-4F26-87B8-4F59B30A3184Q36409313-A0F8A2A1-DEA0-48AD-93F5-D3A729A5CF47Q38366291-02BBCE37-2BA6-4468-BD9D-A3DFB17B44EFQ38810339-CB94BC2D-252A-4BDD-B79F-E06CECBD7725Q39047085-F618F2C8-391A-451C-9012-F89FEB90FF4AQ39107119-3418C6BF-BB4C-457C-8004-BAC450B0D5FCQ40733370-7B4962A3-BA6F-4E5B-84B1-093BF42BBFA7Q44293817-003671D0-4A70-4E33-BA63-139A02F5546BQ45340447-494510B7-CE2A-4F9E-B955-749D45A3FAABQ46512356-C093DC72-3AC4-4AE7-9C98-1924CF22CBA8Q47448256-A0121355-2D35-41D0-9018-8A2E0D8EE326Q47878052-5D8A5432-AC1A-4D3E-8B9F-0B12165616E7Q50541374-016EA1A8-199C-4E1D-9441-35898CFE8EC3Q50953138-2EE703AF-5F94-4F36-9CE8-6BDFC4D64234Q54217742-70163905-42EC-4B31-A13C-C6EDC6AF4E2EQ56930830-99AF6B88-763B-4BF5-A5AC-90C37D682BEEQ57083844-FE670725-5609-47E9-B2C4-B30EFF5CF823Q57083847-A5146443-C4C2-4F38-9F3B-6963CECADFF9Q57083854-77259E15-5432-44C1-8FFD-A756F22C222AQ57605573-7A3D5905-D4E4-4F0B-B3A3-3AD1B25CEE0CQ64077224-2CCAB0E3-680B-42B3-9331-DD5CB46B3C8DQ64814697-E0ADEC67-17DD-4298-B751-E75097832AD8Q89715668-88A43EBF-A7DC-4730-8672-9C3BFEA615DCQ89865796-BBED313E-42DF-48B6-9B7C-B25E4C0BA28AQ90859665-6BFEF375-1B2E-4A37-BCF4-870AB6A9C1D3Q92094502-498C6123-6762-4AF6-90E4-64E5E11967DDQ92145094-3976FBBD-D02C-455E-8424-23DA89581DCEQ92474480-62DCB618-84AC-4613-BBC7-8FC05BA3745FQ92618913-1F2473DA-DB9A-4D61-9A3A-E6665DE43930Q94561157-89BDF8F2-3889-4187-ADE2-C83F065A5D0FQ96163052-374A3EB6-EBBE-42E1-A923-8E1C24B25984
P50
description
researcher
@en
հետազոտող
@hy
name
Gael Nicolas
@ast
Gael Nicolas
@en
Gael Nicolas
@es
Gael Nicolas
@nl
Gael Nicolas
@sl
type
label
Gael Nicolas
@ast
Gael Nicolas
@en
Gael Nicolas
@es
Gael Nicolas
@nl
Gael Nicolas
@sl
prefLabel
Gael Nicolas
@ast
Gael Nicolas
@en
Gael Nicolas
@es
Gael Nicolas
@nl
Gael Nicolas
@sl
P106
P21
P31
P496
0000-0001-9391-7800