about
Spectrum of SPG4 mutations in autosomal dominant spastic paraplegiaMutation analysis of the spastin gene (SPG4) in patients in Germany with autosomal dominant hereditary spastic paraplegiaA genome wide search for susceptibility loci in three European malignant hyperthermia pedigreesDetermination of L-carnitine in biological fluids and tissuesA spastic paraplegia mouse model reveals REEP1-dependent ER shaping.Use of SELDI-TOF mass spectrometry for identification of new biomarkers: potential and limitations.Evaluation of two different albumin depletion strategies for improved analysis of human CSF by SELDI-TOF-MS.Approaching clinical proteomics: current state and future fields of application in fluid proteomics.REEP1 mutation spectrum and genotype/phenotype correlation in hereditary spastic paraplegia type 31.Low expression but infrequent genomic loss of the putative tumour suppressor DBCCR1 in astrocytoma.Reduced cortical thickness is associated with the glutamatergic regulatory gene risk variant DAOA Arg30Lys in schizophrenia.Discordance, in a malignant hyperthermia pedigree, between in vitro contracture-test phenotypes and haplotypes for the MHS1 region on chromosome 19q12-13.2, comprising the C1840T transition in the RYR1 geneEvaluation of the XE-5000 for the automated analysis of blood cells in cerebrospinal fluid.Approaching clinical proteomics: current state and future fields of application in cellular proteomics.ZNF804A and cortical structure in schizophrenia: in vivo and postmortem studiesBiochemistry and molecular genetics of muscle diseases.Identification of nuclear localisation sequences in spastin (SPG4) using a novel Tetra-GFP reporter system.Functional mutation analysis provides evidence for a role of REEP1 in lipid droplet biology.A polymorphic Alu insertion that mediates distinct disease-associated deletions.Unexpected pathogenic mechanism of a novel mutation in the coding sequence of SPG4 (spastin).Morphological and electrophysiological features of mature neurons in differentiated skin-derived precursor cells.No influence of 5-HTTLPR gene polymorphism on migraine symptomatology, comorbid depression, and chronification.Mass spectometry-based protein patterns in the diagnosis of sepsis/systemic inflammatory response syndrome.Guidelines for molecular genetic detection of susceptibility to malignant hyperthermia.[Study protocol of the VISEP study. Response of the SepNet study group].Common variation in NCAN, a risk factor for bipolar disorder and schizophrenia, influences local cortical folding in schizophrenia.Effects of fat-modified dairy products on blood lipids in humans in comparison with other fats.Single and chronic administration of ciprofibrate or of ciprofibrate-glycinate in male Fischer 344 rats: comparison of the effects on morphological and biochemical parameters in liver and blood.Isoform-specific increase of spastin stability by N-terminal missense variants including intragenic modifiers of SPG4 hereditary spastic paraplegia.Absence of known familial hemiplegic migraine (FHM) mutations in the CACNA1A gene in patients with common migraine: implications for genetic testing.Strong interference of hemoglobin concentration on CSF total protein measurement using the trichloroacetic acid precipitation method.Glutamate receptor δ 1 (GRID1) genetic variation and brain structure in schizophrenia.Outcome-based profiling of astrocytic tumours identifies prognostic gene expression signatures which link molecular and morphology-based pathology.Brain specific proteins: creatine kinase BB isoenzyme is cochromatographed during preparation of neuron-specific enolase from human brain.Analysis of CYP7B1 in non-consanguineous cases of hereditary spastic paraplegia.[A new gene locus for an autosomal-dominant non-syndromic hearing impairment (DFNA 33) is situated on chromosome 13q34-qter].[A new locus for an autosomal dominant, non-syndromic hearing impairment (DFNA57) located on chromosome 19p13.2 and overlapping with DFNB15].[Molecular analysis of the heterogeneity of hereditary monosymptomatic sensorineural hearing loss].[Uncontrolled clinical study of the efficacy of ambulant fasting in patients with osteoarthritis].[Diagnostic significance of muscle biopsies in metabolic myopathies. II. Clinical biochemistry].
P50
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P50
description
researcher
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wetenschapper
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հետազոտող
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name
Thomas Deufel
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Thomas Deufel
@en
Thomas Deufel
@es
Thomas Deufel
@nl
Thomas Deufel
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type
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Thomas Deufel
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Thomas Deufel
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Thomas Deufel
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Thomas Deufel
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Thomas Deufel
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prefLabel
Thomas Deufel
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Thomas Deufel
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Thomas Deufel
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Thomas Deufel
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Thomas Deufel
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P106
P21
P31
P496
0000-0003-4839-3117