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Neurology, ISSN 0028-3878, 07/2014, Volume 83, Issue 4, pp. 376 - 376
A 79-year-old woman developed subacute progressive gait instability. Brain MRI demonstrated patchy nodular enhancement within the brainstem and cerebellum... 
CLINICAL NEUROLOGY | Humans | Blood Gas Analysis | Inflammation | Cerebellum - pathology | Magnetic Resonance Imaging | Brain Diseases - pathology | Brain Stem - pathology | Hyperventilation - pathology | Brain Diseases - complications | Video Recording | Female | Hyperventilation - etiology | Aged
Journal Article
Cell Reports, ISSN 2211-1247, 09/2016, Volume 16, Issue 10, pp. 2666 - 2685
Human haploinsufficiency of the transcription factor Tcf4 leads to a rare autism spectrum disorder called Pitt-Hopkins syndrome (PTHS), which is associated... 
transcription | next-generation sequencing | social interactions | language | schizophrenia | neuroepigenetics | epigenetics | autism | E2-2 | learning and memory | DNA methylation | HDAC inhibitor | Pitt-Hopkins syndrome | autism spectrum disorder | transcription factor 4 | GAIT ANALYSIS | LONG-TERM-MEMORY | MOUSE MODEL | DISEASE | SCHIZOPHRENIA | ULTRASONIC VOCALIZATION | PITT-HOPKINS SYNDROME | HISTONE ACETYLATION | EXPRESSION | GENE-TRANSCRIPTION | CELL BIOLOGY | Memory - drug effects | Transcription, Genetic - drug effects | Autistic Disorder - pathology | Autistic Disorder - physiopathology | Motor Activity - drug effects | Neuronal Plasticity - drug effects | Intellectual Disability - complications | Male | Gene Expression Profiling | Transcription Factor 7-Like 2 Protein - metabolism | Gene Knockdown Techniques | Intellectual Disability - genetics | Neuronal Plasticity - genetics | Long-Term Potentiation - drug effects | Facies | Hyperventilation - physiopathology | Hydroxamic Acids - pharmacology | Disease Models, Animal | Transcription Factor 7-Like 2 Protein - genetics | Hyperventilation - genetics | Hyperventilation - complications | Intellectual Disability - pathology | DNA Methylation - genetics | Intellectual Disability - physiopathology | Hippocampus - metabolism | Animals | Hyperventilation - pathology | Prepulse Inhibition - drug effects | CpG Islands - genetics | Histone Deacetylase Inhibitors - pharmacology | Mice | Histone Deacetylase 2 - metabolism | Autistic Disorder - complications | DNA Methylation - drug effects
Journal Article
Journal Article
Human Genetics, ISSN 0340-6717, 11/2011, Volume 130, Issue 5, pp. 645 - 655
Journal Article
Neurological Research, ISSN 0161-6412, 09/2008, Volume 30, Issue 7, pp. 746 - 750
Objective: The strength-duration time constant (SDTC) is a measure of axonal excitability and depends on the biophysical properties of the axonal membrane. The... 
STRENGTH-DURATION PROPERTIES | ALCOHOLIC POLYNEUROPATHY | SENSORY | MOTOR FIBERS | Strength-duration properties | Sensory | Alcoholic polyneuropathy | Motor fibers | HUMAN PERIPHERAL-NERVE | HYPERVENTILATION | motor fibers | NEUROPATHY | strength-duration properties | sensory | DIABETIC POLYNEUROPATHY | NEUROSCIENCES | CLINICAL NEUROLOGY | EXCITABILITY PROPERTIES | Central Nervous System Depressants - adverse effects | Humans | Myelin Sheath - drug effects | Alcoholic Neuropathy - physiopathology | Male | Peripheral Nerves - drug effects | Median Nerve - drug effects | Motor Neurons - pathology | Sensory Receptor Cells - physiology | Time Factors | Ethanol - adverse effects | Median Nerve - physiopathology | Reaction Time - drug effects | Cell Membrane - pathology | Adult | Female | Wallerian Degeneration - diagnosis | Neural Conduction - drug effects | Action Potentials - drug effects | Cell Membrane - drug effects | Motor Neurons - drug effects | Wallerian Degeneration - chemically induced | Motor Neurons - physiology | Sensory Receptor Cells - pathology | Myelin Sheath - pathology | Wallerian Degeneration - physiopathology | Axons - drug effects | Neural Conduction - physiology | Median Nerve - pathology | Ranvier's Nodes - drug effects | Alcoholic Neuropathy - diagnosis | Reaction Time - physiology | Electrodiagnosis - methods | Peripheral Nerves - pathology | Peripheral Nerves - physiopathology | Action Potentials - physiology | Sensory Receptor Cells - drug effects | Axons - pathology | Ranvier's Nodes - pathology | Index Medicus
Journal Article
Microbes and Infection, ISSN 1286-4579, 2004, Volume 6, Issue 14, pp. 1312 - 1319
Journal Article
Human Mutation, ISSN 1059-7794, 04/2009, Volume 30, Issue 4, pp. 669 - 676
Pitt‐Hopkins syndrome is a severe congenital encephalopathy recently ascribed to de novo heterozygous TCF4 gene mutations. We report a series of 13 novel PHS... 
mental retardation | TCF4 | Pitt‐Hopkins | E‐protein | bHLH | E-protein | Pitt-Hopkins | MENTAL-RETARDATION | HASH-1 | HAPLOINSUFFICIENCY | E2-2 | GENETICS & HEREDITY | DIFFERENTIATION | PROTEINS | TRANSCRIPTION FACTOR | BINDING | DOSAGE | REVEALS | Abnormalities, Multiple - pathology | Immunohistochemistry | Luciferases - metabolism | Transcription Factors - chemistry | Humans | Child, Preschool | Infant | Male | Electroencephalography | Gene Expression Profiling | Luciferases - genetics | Young Adult | In Situ Hybridization | Gene Expression Regulation, Developmental | Adult | Female | Child | Dimerization | Abnormalities, Multiple - genetics | DNA-Binding Proteins - physiology | Transcription Factors - physiology | Transcription Factor 4 | Intellectual Disability - pathology | Transcription Factors - genetics | DNA-Binding Proteins - genetics | Reverse Transcriptase Polymerase Chain Reaction | DNA-Binding Proteins - chemistry | Abnormalities, Multiple - physiopathology | Syndrome | Magnetic Resonance Imaging | Hyperventilation - pathology | Basic Helix-Loop-Helix Leucine Zipper Transcription Factors | Adolescent | HeLa Cells | Mutation | Life Sciences | Luciferases | Genetics | Intellectual Disability | DNA-Binding Proteins | Abnormalities, Multiple | Transcription Factors | Hyperventilation | Human genetics
Journal Article