about
Human and mouse mutations in WDR35 cause short-rib polydactyly syndromes due to abnormal ciliogenesisTranslation initiator EIF4G1 mutations in familial Parkinson diseaseIsolation of a partial candidate gene for Menkes disease by positional cloningMolecular basis of the brindled mouse mutant (Mo(br)): a murine model of Menkes diseaseMutations in SH3PXD2B cause Borrone dermato-cardio-skeletal syndrome.Profile of families with parkinsonism-predominant spinocerebellar ataxia type 2 (SCA2).Expanding the phenotypic spectrum of ARID1B-mediated disorders and identification of altered cell-cycle dynamics due to ARID1B haploinsufficiency.Diagnostic and cost utility of whole exome sequencing in peripheral neuropathy.Mutant torsinA interacts with tyrosine hydroxylase in cultured cells.The PARK8 locus in autosomal dominant parkinsonism: confirmation of linkage and further delineation of the disease-containing interval.Long range regulation of human FXN gene expressionIdentification of a novel gene linked to parkin via a bi-directional promoter.SCA2 may present as levodopa-responsive parkinsonism.Refining analyses of copy number variation identifies specific genes associated with developmental delayIt's a double knock-out! The quaking mouse is a spontaneous deletion of parkin and parkin co-regulated gene (PACRG).Mutations in DARS cause hypomyelination with brain stem and spinal cord involvement and leg spasticity.Identification of the human ubiquitin specific protease 31 (USP31) gene: structure, sequence and expression analysis.Parkin Co-Regulated Gene (PACRG) is regulated by the ubiquitin-proteasomal system and is present in the pathological features of Parkinsonian diseases.Mutations in RAB39B cause X-linked intellectual disability and early-onset Parkinson disease with α-synuclein pathologyMutations in SPRTN cause early onset hepatocellular carcinoma, genomic instability and progeroid featuresFamilial cortical dysplasia type IIA caused by a germline mutation in DEPDC5Hemispheric cortical dysplasia secondary to a mosaic somatic mutation in MTOR.ironXS: high-school screening for hereditary haemochromatosis is acceptable and feasibleThe COMT Val158 allele is associated with impaired delayed-match-to-sample performance in ADHD.Complete callosal agenesis, pontocerebellar hypoplasia, and axonal neuropathy due to AMPD2 lossGermline and somatic FGFR1 abnormalities in dysembryoplastic neuroepithelial tumors.Heterozygous mutations in HSD17B4 cause juvenile peroxisomal D-bifunctional protein deficiency.Cell and gene therapy for Friedreich ataxia: progress to date.ARID1B-mediated disorders: Mutations and possible mechanisms.Compound heterozygous FXN mutations and clinical outcome in friedreich ataxia.Parkin co-regulated gene is involved in aggresome formation and autophagy in response to proteasomal impairment.Identification and validation of control cell lines for accurate parkin dosage analysis.Biochemical characterization of torsinB.Accurate determination of ataxin-2 polyglutamine expansion in patients with intermediate-range repeats.RING finger 1 mutations in Parkin produce altered localization of the protein.Correction of the copper transport defect of Menkes patient fibroblasts by expression of two forms of the sheep Wilson ATPase.Functional association of the parkin gene promoter with idiopathic Parkinson's disease.Correction of the copper transport defect of Menkes patient fibroblasts by expression of the Menkes and Wilson ATPases.Functional analysis and intracellular localization of the human menkes protein (MNK) stably expressed from a cDNA construct in Chinese hamster ovary cells (CHO-K1).Reducing the exome search space for mendelian diseases using genetic linkage analysis of exome genotypes.
P50
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P50
description
hulumtues
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onderzoeker
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հետազոտող
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name
Paul J. Lockhart
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Paul J. Lockhart
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Paul J. Lockhart
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Paul J. Lockhart
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Paul J. Lockhart
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type
label
Paul J. Lockhart
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Paul J. Lockhart
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Paul J. Lockhart
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Paul J. Lockhart
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Paul J. Lockhart
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Paul Lockhart
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Paul J. Lockhart
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Paul J. Lockhart
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Paul J. Lockhart
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Paul J. Lockhart
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Paul J. Lockhart
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P1053
E-7753-2011
P106
P1153
26643378800
P21
P31
P3829
P3835
paul-lockhart2
P4012
P496
0000-0003-2531-8413