about
Complete loss of P/Q calcium channel activity caused by a CACNA1A missense mutation carried by patients with episodic ataxia type 2A multistep process for the dispersal of a Y chromosomal lineage in the Mediterranean areaEpisodic ataxia type 2 (EA2) and spinocerebellar ataxia type 6 (SCA6) due to CAG repeat expansion in the CACNA1A gene on chromosome 19pA G301R Na+/K+ -ATPase mutation causes familial hemiplegic migraine type 2 with cerebellar signsA fine physical map of the CACNA1A gene region on 19p13.1-p13.2 chromosome.A channelopathy mutation in the voltage-sensor discloses contributions of a conserved phenylalanine to gating properties of Kv1.1 channels and ataxiaMutations in the mitochondrial protease gene AFG3L2 cause dominant hereditary ataxia SCA28.A novel de novo mutation of the TITF1/NKX2-1 gene causing ataxia, benign hereditary chorea, hypothyroidism and a pituitary mass in a UK family and review of the literature.Molecular mechanism of Spinocerebellar Ataxia type 6: glutamine repeat disorder, channelopathy and transcriptional dysregulation. The multifaceted aspects of a single mutation.Spinocerebellar ataxia type 6 and episodic ataxia type 2: differences and similarities between two allelic disorders.Analyzing the Effects of a G137V Mutation in the FXN Gene.De Novo Mutations in PDE10A Cause Childhood-Onset Chorea with Bilateral Striatal LesionsIdentification of novel and recurrent CACNA1A gene mutations in fifteen patients with episodic ataxia type 2.Newly characterised 5' and 3' regions of CACNA1A gene harbour mutations associated with Familial Hemiplegic Migraine and Episodic Ataxia.Genetic fitness in Huntington's Disease and Spinocerebellar Ataxia 1: a population genetics model for CAG repeat expansions.ADCY5-related movement disorders: Frequency, disease course and phenotypic variability in a cohort of paediatric patientsDramatically different levels of Cacna1a gene expression between pre-weaning wild type and leaner mice.A shared haplotype for dentatorubropallidoluysian atrophy (DRPLA) in Italian families testifies of the recent introduction of the mutation.Forensic DNA challenges: replacing numbers with names of Fosse Ardeatine's victims.The role of the SCA2 trinucleotide repeat expansion in 89 autosomal dominant cerebellar ataxia families. Frequency, clinical and genetic correlates.Acetazolamide-responsive episodic ataxia in an Italian family refines gene mapping on chromosome 19p13.Functional characterization of two novel mutations in TTF-1/NKX2.1 homeodomain in patients with benign hereditary chorea.Ordering of 44 Genetic Markers in the 6p22 Cytogenetic BandRestless Legs Syndrome in NKX2-1-related chorea: An expansion of the disease spectrumFunctional characterization of a novel mutation in TITF-1 in a patient with benign hereditary choreaEarly onset progressive ataxia associated with the first CACNA1A mutation identified within the I–II loopDNA markers in diagnosis of adult dominant polycystic kidney diseaseLeukocyte telomere shortening in Huntington's diseaseIntronic ATTTC repeat expansions in STARD7 in familial adult myoclonic epilepsy linked to chromosome 2Characterization of human frataxin missense variants in cancer tissues
P50
Q24536238-569BE137-3E24-42F9-9C18-B2643ABA2A35Q28190994-FA07B432-6035-44D6-A4A3-3E7A3A87C5B6Q28249418-42A91E56-83F2-4616-8D69-19E3E713F24FQ28285675-3FA84932-E768-4FD3-949C-B25EC62396B9Q30828600-0B55B89E-4C53-4ABA-9381-491CACBBCB9BQ33870521-C67DDB52-F9F6-4BDE-A7F1-2786A2C1CE79Q34102568-1AA68BDA-7DC2-4690-88C3-64EB8ABAADCFQ34136479-BF94DB7C-A3E4-4DD5-A57D-435BED2ED264Q35087285-8FAC4311-4C1F-4ECA-AC0C-4F1E7490197FQ35550091-77E55C30-E26D-4B55-AB21-C1DFEFF46AA8Q36317262-CF87B26A-FF8E-4CD3-9260-22C8A763756AQ36802579-DA30ED44-D5E2-4855-9BC2-146CE53090ABQ37686824-81FC00A3-0C54-443F-86C0-021E47101FD3Q39922678-34ABF52F-55D1-40A1-AF2B-684512924F12Q40927942-A564442D-AE15-49F6-8703-B3980AE45326Q41320475-C99AF6E1-15AD-4B4C-A992-2D4D257B74EFQ45172198-B6F15B29-3BDF-47BD-AF4D-5ED3E31E3B42Q47222677-859081B8-A8E0-4BE8-8D98-FE2E1E258ADBQ47271632-FE67FDD0-8BF5-41B1-942A-090E6B84B10CQ48486744-E380D267-2039-42BF-83C7-0BCD724F0985Q48714184-BE3013F3-4EC2-44E5-9382-294B58E6BDFDQ49060981-ECFA063A-1CE0-4DE5-8D30-180004A7511DQ57405958-8A622AF1-665F-46E8-BFB1-EC966FF731D6Q57807603-B18C7DB8-AB35-420B-A89A-854DEE7B5E14Q58478856-1D27E471-4243-4EF4-8263-482FD7C0D933Q58478858-78EF5380-CD78-408D-8A1B-8DE3DE1749B5Q58478862-58842211-62B1-470A-935F-B26088089AA2Q58601629-83F629CD-8D02-463E-BE0E-41444AAFF40EQ90999050-7B0020DC-4B75-430B-B085-1A1DAB46E505Q91912184-83BF3D33-4B25-4054-8C2A-EBF76488130D
P50
description
hulumtuese
@sq
researcher
@en
wetenschapper
@nl
հետազոտող
@hy
name
Liana Veneziano
@ast
Liana Veneziano
@en
Liana Veneziano
@es
Liana Veneziano
@nl
Liana Veneziano
@sl
type
label
Liana Veneziano
@ast
Liana Veneziano
@en
Liana Veneziano
@es
Liana Veneziano
@nl
Liana Veneziano
@sl
prefLabel
Liana Veneziano
@ast
Liana Veneziano
@en
Liana Veneziano
@es
Liana Veneziano
@nl
Liana Veneziano
@sl
P106
P1153
6701460768
P21
P31
P496
0000-0002-9921-8450