about
Exome sequencing identifies a novel mutation in PIK3R1 as the cause of SHORT syndromeExome sequencing and functional analysis identifies BANF1 mutation as the cause of a hereditary progeroid syndromeHomozygosity mapping of autosomal recessive demyelinating Charcot-Marie-Tooth neuropathy (CMT4H) to a novel locus on chromosome 12p11.21-q13.11Mutations in FGD4 encoding the Rho GDP/GTP exchange factor FRABIN cause autosomal recessive Charcot-Marie-Tooth type 4HmiR-9: the sentinel of neurons in progeriaLack of correlation between outcomes of membrane repair assay and correction of dystrophic changes in experimental therapeutic strategy in dysferlinopathyPMPCA mutations cause abnormal mitochondrial protein processing in patients with non-progressive cerebellar ataxia.Deregulation of the protocadherin gene FAT1 alters muscle shapes: implications for the pathogenesis of facioscapulohumeral dystrophyRETRACTED: VMA21 deficiency causes an autophagic myopathy by compromising V-ATPase activity and lysosomal acidificationVMA21 deficiency prevents vacuolar ATPase assembly and causes autophagic vacuolar myopathyHIV-1 infection and first line ART induced differential responses in mitochondria from blood lymphocytes and monocytes: the ANRS EP45 "Aging" studyGenotype-phenotype correlation in Costello syndrome: HRAS mutation analysis in 43 cases.Drug screening on Hutchinson Gilford progeria pluripotent stem cells reveals aminopyrimidines as new modulators of farnesylation.Lamin a truncation in Hutchinson-Gilford progeria.Next generation sequencing for molecular diagnosis of neuromuscular diseases.CAMOS, a nonprogressive, autosomal recessive, congenital cerebellar ataxia, is caused by a mutant zinc-finger protein, ZNF592SRPX2 mutations in disorders of language cortex and cognition.HIV protease inhibitors do not cause the accumulation of prelamin A in PBMCs from patients receiving first line therapy: the ANRS EP45 "aging" studyMolecular bases of progeroid syndromes.Combined treatment with statins and aminobisphosphonates extends longevity in a mouse model of human premature aging.Genes for hereditary sensory and autonomic neuropathies: a genotype-phenotype correlation.Type B mandibuloacral dysplasia with congenital myopathy due to homozygous ZMPSTE24 missense mutation.Low penetrance in facioscapulohumeral muscular dystrophy type 1 with large pathological D4Z4 alleles: a cross-sectional multicenter study.New ZMPSTE24 (FACE1) mutations in patients affected with restrictive dermopathy or related progeroid syndromes and mutation update.Sequence family variant loss from the AZFc interval of the human Y chromosome, but not gene copy loss, is strongly associated with male infertilityDetection of TRIM32 deletions in LGMD patients analyzed by a combined strategy of CGH array and massively parallel sequencingSKIV2L mutations cause syndromic diarrhea, or trichohepatoenteric syndrome.WDR73 Mutations Cause Infantile Neurodegeneration and Variable Glomerular Kidney Disease.Molecular genetics of autosomal-recessive axonal Charcot-Marie-Tooth neuropathies.Truncated prelamin A expression in HGPS-like patients: a transcriptional study.A Heterozygous ZMPSTE24 Mutation Associated with Severe Metabolic Syndrome, Ectopic Fat Accumulation, and Dilated CardiomyopathyMutations in BCAP31 cause a severe X-linked phenotype with deafness, dystonia, and central hypomyelination and disorganize the Golgi apparatusAntisense-Based Progerin Downregulation in HGPS-Like Patients' Cells.UMD-Predictor: A High-Throughput Sequencing Compliant System for Pathogenicity Prediction of any Human cDNA Substitution.A collodion baby with facial dysmorphism, limb anomalies, pachygyria and genital hypoplasia: a mild form of Neu-laxova syndrome or a new entity?AP1S2 is mutated in X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizures (Pettigrew syndrome).Induced pluripotent stem cells reveal functional differences between drugs currently investigated in patients with hutchinson-gilford progeria syndrome.Translational research and therapeutic perspectives in dysferlinopathies.Diagnostic strategy for limb-girdle muscular dystrophies.Nuclear matrix, nuclear envelope and premature aging syndromes in a translational research perspective.
P50
Q21261476-C4A90095-78D6-4A4E-B21D-29EA03E83DC0Q24626373-46C2215A-A6CE-4241-B5EA-48324CE8E529Q24673964-3AEF22C2-CB70-4D78-B43B-C8623809B057Q24676752-A18D5CA9-0A90-411C-98A7-AE58AD40917BQ27024586-EF4C5D5F-10B7-4EA9-AD28-57DEB2146B26Q27301945-4FF7E286-6603-4AE5-99C3-83914579B0DBQ27303788-6F90E604-F501-45D0-BEB1-907571B155A7Q27322323-F06B5D2E-87CA-4AF2-BA84-3DCC2974966DQ28115568-9A328B7E-70ED-4395-91E9-C4EF11901360Q28283153-4DE17423-B5F5-4290-8E5B-7E7D47F74A8EQ28729025-A93C5333-A1DD-4F68-AEE8-3B2141017A78Q30489944-40E55547-9233-4BA8-BE67-CAE2B57DE2A8Q30846580-2E289192-38A0-4C78-B7BB-6BE20D7065BDQ34191501-C58FC94F-53A7-44E3-806B-5DA88D2F471DQ34242488-D9F5B00B-5C49-49B2-86A0-7D32E5E2B79BQ34329675-3E450E8F-01AD-4D10-B451-D1C45E637BC4Q34497301-77B8C68F-9B82-4716-A168-1B0C8E3CD87AQ34534986-D3BD36D4-1DA9-47DA-ACE6-547932FEBC48Q34567458-AF5CCDFD-B576-45BC-8B5D-DDD65FED4775Q34790173-2AE3A0D5-9BF6-48AB-9019-0B4F6C9E6BC9Q34995414-CFBF31BD-9397-4416-AA01-42224BDBA21EQ35030979-402B0C31-7FC1-447C-B97C-3599D16147F0Q35030979-CFB9A761-FC39-4DD7-BEAE-3B589370FCBBQ35061314-0FDBB932-A136-4BD2-9F60-154737E0104DQ35150458-E9F765FA-C0E4-4706-89D0-01F5A86984E7Q35444185-9DA3908C-25C3-4F17-9569-0CCFA5D6BEBEQ35722221-20986114-2B4E-4E81-B9C9-09BEEB62A5B6Q35877863-F47B795D-F201-4364-85CE-22777B370DD6Q36193298-84AC3393-036D-406F-AED1-FF4D0616FEE2Q36507152-C7C8BD3E-5750-4E51-B689-0DB0B5F2B57BQ36695378-EF05F61B-ED8E-42BB-B65A-7E2573B0ECBAQ37062020-B2C5BC7E-1163-431E-84BE-6ED21F2AA368Q37162699-1D7FE295-39F4-407F-BF44-2BFE337FBC0AQ37293792-DAFC48DD-53FE-49F5-849F-BE255BA2449BQ37345605-48376974-2EEE-457D-9309-D2D6617AE6FEQ37408397-111080DF-467D-474A-94B5-44116BB9E205Q37585836-58C4F072-ABD7-46E2-B46C-4858327D1F26Q37681010-049953AA-91E7-4051-82BE-5E623A886253Q37873747-6ED97010-2A4D-43A3-A5D7-321B89ADBA43Q38017018-AE039D7C-07C5-4D9B-936A-450E93E587CD
P50
description
hulumtues
@sq
onderzoeker
@nl
researcher
@en
հետազոտող
@hy
name
Nicolas Levy
@ast
Nicolas Levy
@de
Nicolas Levy
@en
Nicolas Levy
@es
Nicolas Levy
@fr
Nicolas Levy
@nl
Nicolas Levy
@sl
Николас Леви
@ru
type
label
Nicolas Levy
@ast
Nicolas Levy
@de
Nicolas Levy
@en
Nicolas Levy
@es
Nicolas Levy
@fr
Nicolas Levy
@nl
Nicolas Levy
@sl
Николас Леви
@ru
altLabel
N Levy
@en
prefLabel
Nicolas Levy
@ast
Nicolas Levy
@de
Nicolas Levy
@en
Nicolas Levy
@es
Nicolas Levy
@fr
Nicolas Levy
@nl
Nicolas Levy
@sl
Николас Леви
@ru
P1053
J-1632-2014
P106
P21
P31
P3829
P496
0000-0001-5171-6365