Thomas Jefferson University

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Bauer, Peter
One or more keywords matched the following items that are connected to Bauer, Peter
Item TypeName
Concept Congenital Abnormalities
Concept Abnormalities, Multiple
Concept Accreditation
Concept Adenine
Concept Aged
Concept Aged, 80 and over
Concept Amphetamine
Concept Amyotrophic Lateral Sclerosis
Concept Aspartic Acid
Concept Base Sequence
Concept Bile Duct Neoplasms
Concept Binding Sites
Concept Body Weight
Concept Botulinum Toxins
Concept Brain
Concept Carrier Proteins
Concept Cell Nucleus
Concept Cerebellar Ataxia
Concept Cerebral Cortex
Concept Chromatography, High Pressure Liquid
Concept Chromosome Aberrations
Concept Chromosomes, Human, Pair 14
Concept Chromosomes, Human, Pair 16
Concept Consanguinity
Concept Corpus Callosum
Concept Corpus Striatum
Concept Cytoskeletal Proteins
Concept Dental Plaque Index
Concept DMF Index
Concept DNA Repair
Concept DNA-Binding Proteins
Concept Dystonia Musculorum Deformans
Concept Electrophysiology
Concept Epilepsy
Concept Exons
Concept Family
Concept Ferritins
Concept Finland
Concept Follow-Up Studies
Concept Genetic Counseling
Concept Genetic Markers
Concept Guanine
Concept Proton-Translocating ATPases
Concept Humans
Concept Huntington Disease
Concept Hydrocephalus
Concept Immunohistochemistry
Concept Introns
Concept Isoleucine
Concept Kinetics
Concept Lactoferrin
Concept Language Disorders
Concept Longitudinal Studies
Concept Membrane Proteins
Concept Mice, Inbred C3H
Concept Microcephaly
Concept Middle Aged
Concept Mitochondria
Concept Molecular Biology
Concept Motor Activity
Concept Musculoskeletal Abnormalities
Concept Nerve Tissue Proteins
Concept Synaptic Transmission
Concept Neuropsychology
Concept Nuclear Proteins
Concept Parkinson Disease
Concept Primates
Concept Promoter Regions, Genetic
Concept Protein Conformation
Concept Protein Denaturation
Concept Protein Kinase C
Concept Protein Kinases
Concept Proteins
Concept Recombinant Fusion Proteins
Concept Repressor Proteins
Concept RNA Splicing
Concept Speech
Concept Speech Disorders
Concept Substantia Nigra
Concept Thalamus
Concept Threonine
Concept Biomarkers, Tumor
Concept Uridine Diphosphate Glucose Dehydrogenase
Concept Zebrafish
Concept Cohort Studies
Concept Molecular Structure
Concept Histocompatibility Antigens Class I
Concept Biomarkers
Concept Spastic Paraplegia, Hereditary
Concept Oncogene Proteins
Concept Case-Control Studies
Concept Osseointegration
Concept PC12 Cells
Concept Cell Death
Concept Rats, Sprague-Dawley
Concept Alternative Splicing
Concept Age of Onset
Concept Machado-Joseph Disease
Concept Receptors, Kainic Acid
Concept Receptors, Adrenergic, beta-2
Concept Crystallography, X-Ray
Concept Codon, Nonsense
Concept Homeodomain Proteins
Concept HSP70 Heat-Shock Proteins
Concept Microsatellite Repeats
Concept Trinucleotide Repeats
Concept Arabs
Concept Spectrometry, Mass, Matrix-Assisted Laser Desorption-Ionization
Concept Brain-Derived Neurotrophic Factor
Concept Computational Biology
Concept BRCA1 Protein
Concept COS Cells
Concept Trinucleotide Repeat Expansion
Concept Base Pairing
Concept rab GTP-Binding Proteins
Concept Parkinsonian Disorders
Concept Spinocerebellar Ataxias
Concept Raclopride
Concept RNA Splice Sites
Concept Genomics
Concept Mitochondrial Proteins
Concept Uniparental Disomy
Concept Tumor Suppressor Proteins
Concept Membrane Transport Proteins
Concept Zebrafish Proteins
Concept Databases, Genetic
Concept Information Dissemination
Concept Vesicular Transport Proteins
Concept Adaptor Protein Complex 4
Concept TATA-Box Binding Protein
Concept Siblings
Concept GTP-Binding Protein alpha Subunits
Concept Ubiquitin-Protein Ligases
Concept Rotarod Performance Test
Concept Intracellular Signaling Peptides and Proteins
Concept Proto-Oncogene Proteins B-raf
Concept Adaptor Proteins, Signal Transducing
Concept Dopamine Plasma Membrane Transport Proteins
Concept Apoptosis Regulatory Proteins
Concept Glial Cell Line-Derived Neurotrophic Factor Receptors
Concept Mice
Concept Rats
Concept Munc18 Proteins
Concept Inositol 1,4,5-Trisphosphate Receptors
Concept Ubiquitination
Concept Comparative Genomic Hybridization
Concept Rats, Transgenic
Concept Young Adult
Concept HEK293 Cells
Concept Exome
Concept Hereditary Breast and Ovarian Cancer Syndrome
Concept Hemochromatosis Protein
Concept Fetal Alcohol Spectrum Disorders
Concept Protein Deglycase DJ-1
Concept Protein Domains
Concept ATPases Associated with Diverse Cellular Activities
Concept Leucine-Rich Repeat Serine-Threonine Protein Kinase-2
Concept Huntingtin Protein
Academic Article Autosomal dominant cerebellar ataxias: clinical features, genetics, and pathogenesis.
Academic Article Mutation at the SCA17 locus is not a common cause of primary dystonia.
Academic Article Screening for mutations of the ferritin light and heavy genes in Parkinson's disease patients with hyperechogenicity of the substantia nigra.
Academic Article Do CTG expansions at the SCA8 locus cause ataxia?
Academic Article Clinical features and neuropathology of autosomal dominant spinocerebellar ataxia (SCA17).
Academic Article Lack of mutations in the epsilon-sarcoglycan gene in patients with different subtypes of primary dystonias.
Academic Article Trinucleotide repeat expansions in the junctophilin-3 gene are not found in Caucasian patients with a Huntington's disease-like phenotype.
Academic Article Frequency and phenotypic variability of the GAG deletion of the DYT1 gene in an unselected group of patients with dystonia.
Academic Article Dissecting the role of the mitochondrial chaperone mortalin in Parkinson's disease: functional impact of disease-related variants on mitochondrial homeostasis.
Academic Article Prevalence of THAP1 sequence variants in German patients with primary dystonia.
Academic Article Lack of sequence variations in THAP1 gene and THAP1-binding sites in TOR1A promoter of DYT1 patients.
Academic Article A novel transgenic rat model for spinocerebellar ataxia type 17 recapitulates neuropathological changes and supplies in vivo imaging biomarkers.
Academic Article Guidelines for diagnostic next-generation sequencing.
Academic Article Biallelic variants in the transcription factor PAX7 are a new genetic cause of myopathy.
Academic Article Mutation in the AP4B1 gene cause hereditary spastic paraplegia type 47 (SPG47) .
Academic Article A comprehensive genetic study of the proteasomal subunit S6 ATPase in German Parkinson's disease patients.
Academic Article Mutations in CIZ1 are not a major cause for dystonia in Germany.
Academic Article X-linked intellectual disability type Nascimento is a clinically distinct, probably underdiagnosed entity.
Academic Article Spinocerebellar ataxia type 15: diagnostic assessment, frequency, and phenotypic features.
Academic Article Understanding the role of genetic variability in LRRK2 in Indian population.
Academic Article Loss-of-function mutations in UDP-Glucose 6-Dehydrogenase cause recessive developmental epileptic encephalopathy.
Academic Article Epilepsy is not a mandatory feature of STXBP1 associated ataxia-tremor-retardation syndrome.
Academic Article Long-term course and mutational spectrum of spatacsin-linked spastic paraplegia.
Academic Article Intermediate phenotype of ATP13A2 mutation in two Chilean siblings: Towards a continuum between parkinsonism and hereditary spastic paraplegia.
Academic Article Capturing schizophrenia-like prodromal symptoms in a spinocerebellar ataxia-17 transgenic rat.
Academic Article Uniparental disomy of chromosome 16 unmasks recessive mutations of FA2H/SPG35 in 4 families.
Academic Article Autosomal recessive spastic ataxia of Charlevoix Saguenay (ARSACS): expanding the genetic, clinical and imaging spectrum.
Academic Article B-raf and Ha-ras mutations in chemically induced mouse liver tumors.
Academic Article Screening of mutations in GNAL in sporadic dystonia patients.
Academic Article A recurrent, homozygous EMC10 frameshift variant is associated with a syndrome of developmental delay with variable seizures and dysmorphic features.
Academic Article New mutations in protein kinase Cgamma associated with spinocerebellar ataxia type 14.
Academic Article Novel homozygous p.E64D mutation in DJ1 in early onset Parkinson disease (PARK7).
Academic Article Alpha-synuclein and Parkinson's disease: implications from the screening of more than 1,900 patients.
Academic Article Personalized peptide vaccine-induced immune response associated with long-term survival of a metastatic cholangiocarcinoma patient.
Academic Article Lactotransferrin Gene (LTF) Polymorphisms and Dental Implant Loss: A Case-Control Association Study.
Academic Article PINK1, Parkin, and DJ-1 mutations in Italian patients with early-onset parkinsonism.
Academic Article Identification of a heterozygous genomic deletion in the spatacsin gene in SPG11 patients using high-resolution comparative genomic hybridization.
Academic Article Spinocerebellar ataxia type 11 (SCA11) is an uncommon cause of dominant ataxia among French and German kindreds.
Academic Article Investigating the effects of additional truncating variants in DNA-repair genes on breast cancer risk in BRCA1-positive women.
Academic Article Next-generation sequencing in X-linked intellectual disability.
Academic Article SeqPurge: highly-sensitive adapter trimming for paired-end NGS data.
Academic Article Recommendations for whole genome sequencing in diagnostics for rare diseases.
Academic Article Guidelines for diagnostic next-generation sequencing.
Academic Article Genetic basis of neurodevelopmental disorders in 103 Jordanian families.
Academic Article Modulation of the age at onset in spinocerebellar ataxia by CAG tracts in various genes.
Academic Article Mutations in TITF1 are not relevant to sporadic and familial chorea of unknown cause.
Academic Article CAG repeats in Restless Legs syndrome.
Academic Article SCA3: neurological features, pathogenesis and animal models.
Academic Article High-throughput homogeneous mass cleave assay technology for the diagnosis of autosomal recessive Parkinson's disease.
Academic Article Mitochondrial translation initiation factor 3 gene polymorphism associated with Parkinson's disease.
Academic Article SYNE1 ataxia is a common recessive ataxia with major non-cerebellar features: a large multi-centre study.
Academic Article Screening for mutations of the HFE gene in Parkinson's disease patients with hyperechogenicity of the substantia nigra.
Academic Article Epileptic Encephalopathy Caused by Mutations in the Guanine Nucleotide Exchange Factor DENND5A.
Academic Article Genetic analysis of candidate genes modifying the age-at-onset in Huntington's disease.
Academic Article Repeat expansion in spinocerebellar ataxia type 17 alleles of the TATA-box binding protein gene: an evolutionary approach.
Academic Article A relatively common homozygous TRAPPC4 splicing variant is associated with an early-infantile neurodegenerative syndrome.
Academic Article Erratum to "Personalized peptide vaccine-induced immune response associated with long-term survival of a metastatic cholangiocarcinoma patient".
Academic Article HBOC multi-gene panel testing: comparison of two sequencing centers.
Academic Article FOXP2 variants in 14 individuals with developmental speech and language disorders broaden the mutational and clinical spectrum.
Academic Article A total of 220 patients with autosomal dominant spastic paraplegia do not display mutations in the SLC33A1 gene (SPG42).
Academic Article Hypomorphic mutations in POLR3A are a frequent cause of sporadic and recessive spastic ataxia.
Academic Article Clinical and genetic characteristics of sporadic adult-onset degenerative ataxia.
Academic Article A homozygous frameshift variant in an alternatively spliced exon of DLG5 causes hydrocephalus and renal dysplasia.
Academic Article Pathogenic variants in E3 ubiquitin ligase RLIM/RNF12 lead to a syndromic X-linked intellectual disability and behavior disorder.
Academic Article VPS26C homozygous nonsense variant in two cousins with neurodevelopmental deficits, growth failure, skeletal abnormalities, and distinctive facial features.
Academic Article The S18Y polymorphism in the UCHL1 gene is a genetic modifier in Huntington's disease.
Academic Article Heterozygote carriers for CNVs in PARK2 are at increased risk of Parkinson's disease.
Academic Article Spectrin mutations in spinocerebellar ataxia (SCA).
Academic Article Combining exome/genome sequencing with data repository analysis reveals novel gene-disease associations for a wide range of genetic disorders.
Academic Article The modulation of Amyotrophic Lateral Sclerosis risk by ataxin-2 intermediate polyglutamine expansions is a specific effect.
Academic Article Targeted 46-gene and clinical exome sequencing for mutations causing cardiomyopathies.
Academic Article MAB21L1 loss of function causes a syndromic neurodevelopmental disorder with distinctive cerebellar, ocular, craniofacial and genital features (COFG syndrome).
Academic Article An integrated multiomic approach as an excellent tool for the diagnosis of metabolic diseases: our first 3720 patients.
Academic Article First-line exome sequencing in Palestinian and Israeli Arabs with neurological disorders is efficient and facilitates disease gene discovery.
Academic Article Quality assurance within the context of genome diagnostics (a german perspective).
Academic Article Resequencing the complete SNCA locus in Indian patients with Parkinson's disease.
Academic Article The parkin V380L variant is a genetic modifier of Machado-Joseph disease with impact on mitophagy.
Academic Article Clinical and neuroradiological spectrum of biallelic variants in NOTCH3.
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  • Protein
  • Deglycase
  • DJ
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