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1. Full Text Functional compensation of motor function in pre-symptomatic Huntington's disease
by Klöppel, Stefan and Draganski, Bogdan and Siebner, Hartwig R and Tabrizi, Sarah J and Weiller, Cornelius and Frackowiak, Richard S. J
Brain, ISSN 0006-8950, 6/2009, Volume 132, Issue 6, pp. 1624 - 1632
Involuntary choreiform movements are a clinical hallmark of Huntington's disease. Studies in clinically affected patients suggest a shift of motor activations... 
Pre-symptomatic Huntingtons disease | Motor control | FMRI | pre-symptomatic Huntingtons disease | ACTIVATION | ASYMPTOMATIC CARRIERS | SYMPTOMS | MODEL | motor control | NEUROSCIENCES | CLINICAL NEUROLOGY | fMRI | PARKIN | CORTEX | SEQUENCE | MUTATION | ONSET | Neurological Impairments | Motor Reactions | Genetic Disorders | Neurological Organization | Humans | Image Interpretation, Computer-Assisted - methods | Middle Aged | Huntington Disease - psychology | Magnetic Resonance Imaging - methods | Male | Motor Cortex - physiopathology | Fingers - physiopathology | Brain Mapping - methods | Parietal Lobe - physiopathology | Psychomotor Performance - physiology | Young Adult | Neuronal Plasticity - physiology | Adult | Female | Heterozygote | Huntington Disease - physiopathology | pre-symptomatic Huntington's disease | Original
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2. Full Text Expanding Horizons: Ciliary Proteins Reach Beyond Cilia
by Yuan, Shiaulou and Sun, Zhaoxia
Annual Review of Genetics, ISSN 0066-4197, 11/2013, Volume 47, Issue 1, pp. 353 - 376
Once obscure, the cilium has come into the spotlight during the past decade. It is now clear that aside from generating locomotion by motile cilia, both motile... 
left-right asymmetry | zebrafish | polycystic kidney disease | intraflagellar transport | Joubert syndrome | heterotaxy | Heterotaxy | Zebrafish | Intraflagellar transport | Left-right asymmetry | Polycystic kidney disease | INTRAFLAGELLAR TRANSPORT PROTEINS | EXOME CAPTURE | POLYCYSTIC KIDNEY-DISEASE | PLANAR CELL POLARITY | OF-FUNCTION MUTATIONS | ZINC-FINGER NUCLEASES | JOUBERT-SYNDROME | GENETICS & HEREDITY | BARDET-BIEDL-SYNDROME | INNER DYNEIN ARMS | MOTILE CILIA | Cilia - physiology | Polycystic Kidney Diseases - genetics | Flagella - physiology | Ciliary Motility Disorders - physiopathology | Heterotaxy Syndrome - genetics | Heterotaxy Syndrome - physiopathology | Humans | Homeostasis | Polycystic Kidney, Autosomal Recessive - physiopathology | Cerebellum - abnormalities | Polycystic Kidney, Autosomal Recessive - genetics | Cerebellar Diseases - physiopathology | Polycystic Kidney Diseases - physiopathology | Retinitis Pigmentosa | Polycystic Kidney, Autosomal Dominant - genetics | Cilia - ultrastructure | Kidney Diseases, Cystic - genetics | Bardet-Biedl Syndrome - genetics | Disease Models, Animal | Encephalocele - genetics | Kidney Diseases, Cystic - physiopathology | Nervous System - cytology | Flagella - ultrastructure | Retina - physiopathology | Abnormalities, Multiple | Bardet-Biedl Syndrome - physiopathology | Eye Abnormalities - genetics | Encephalocele - physiopathology | Molecular Motor Proteins - physiology | Animals | Cerebellar Diseases - genetics | DNA Repair | Retina - abnormalities | Eye Abnormalities - physiopathology | Polycystic Kidney, Autosomal Dominant - physiopathology | DNA Damage | Kidney Diseases, Cystic - congenital | Cell Movement | Ciliary Motility Disorders - genetics | Physiological aspects | Amino acid sequence | Genetic aspects | Research | Cilia and ciliary motion
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3. Full Text Hypercapnic respiratory failure. Pathophysiology, indications for mechanical ventilation and management
by Kreppein, U and Litterst, P and Westhoff, M
MEDIZINISCHE KLINIK-INTENSIVMEDIZIN UND NOTFALLMEDIZIN, ISSN 2193-6218, 04/2016, Volume 111, Issue 3, pp. 196 - 201
Background. Acute hypercapnic respiratory failure is mostly seen in patients with chronic obstructive pulmonary disease (COPD) and obesity hypoventilation... 
LUNG | Acidosis, respiratory | Obesity hypoventilation syndrome | Pulmonary disease, chronic obstructive | SUPPORT | MEDICINE, GENERAL & INTERNAL | OBSTRUCTIVE PULMONARY-DISEASE | ACUTE EXACERBATIONS | Noninvasive ventilation | OBESE | Mechanical ventilation | POSITIVE-PRESSURE VENTILATION | COPD | Respiration, Artificial - methods | Humans | Hypercapnia - therapy | Fingers - physiopathology | Pulmonary Disease, Chronic Obstructive - physiopathology | Hypoxia - therapy | Muscle Hypotonia - therapy | Microcephaly - physiopathology | Microcephaly - therapy | Myopia - therapy | Fingers - abnormalities | Developmental Disabilities - physiopathology | Respiratory Insufficiency - physiopathology | Hypercapnia - physiopathology | Obesity - physiopathology | Lung - physiopathology | Respiratory Insufficiency - therapy | Noninvasive Ventilation - methods | Developmental Disabilities - therapy | Intellectual Disability - therapy | Intellectual Disability - physiopathology | Pulmonary Disease, Chronic Obstructive - therapy | Muscle Hypotonia - physiopathology | Myopia - physiopathology | Obesity - therapy | Hypoxia - physiopathology | Acidosis, Respiratory - therapy | Acidosis, Respiratory - physiopathology
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4. Full Text Excessive synchronization of basal ganglia neurons at 20 Hz slows movement in Parkinson's disease
by Chen, Chiung Chu and Litvak, Vladimir and Gilbertson, Thomas and Kühn, Andrea and Lu, Chin Song and Lee, Shih Tseng and Tsai, Chon Haw and Tisch, Stephen and Limousin, Patricia and Hariz, Marwan and Brown, Peter and Medicinska fakulteten and Institutionen för farmakologi och klinisk neurovetenskap and Neurokirurgi and Umeå universitet
Experimental Neurology, ISSN 0014-4886, 2007, Volume 205, Issue 1, pp. 214 - 221
Excessive synchronization of neuronal activity at around 20 Hz is a common finding in the basal ganglia of patients with untreated Parkinson's disease (PD).... 
Synchronization | Basal ganglia | Parkinson's disease | basal ganglia | ELECTRODES | HIGH-FREQUENCY STIMULATION | NEUROSCIENCES | CEREBRAL-CORTEX | INHIBITION | DEPENDENCY | DOPAMINE | synchronization | DEEP BRAIN-STIMULATION | HUMAN SUBTHALAMIC NUCLEUS | OSCILLATORY ACTIVITY | MODULATION | Movement | Subthalamic Nucleus - physiopathology | Basal Ganglia - physiopathology | Neurons | Humans | Middle Aged | Electrophysiology | Male | Reaction Time | Fingers - physiopathology | Parkinson Disease - physiopathology | Female | Aged | Electric Stimulation - methods | Neurosciences | Electric Stimulation/methods | Parkinson Disease/physiopathology | Subthalamic Nucleus/physiopathology | Fingers/physiopathology | Basal Ganglia/physiopathology
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5. Full Text Mutations in TGDS associated with additional malformations of the middle fingers and halluces: Atypical Catel–Manzke syndrome in a fetus
by Schoner, Katharina and Bald, Rainer and Horn, Denise and Rehder, Helga and Kornak, Uwe and Ehmke, Nadja
American Journal of Medical Genetics Part A, ISSN 1552-4825, 06/2017, Volume 173, Issue 6, pp. 1694 - 1697
Pierre–Robin sequence, radial deviation, and ulnar clinodactyly of the index fingers due to an additional phalangeal bone, as well as heart defects are the key... 
atypical phenotype | Pierre–Robin sequence | TGDS | Catel–Manzke syndrome | fetal pathology | prenatal manifestation | SEQUENCE | GENETICS & HEREDITY | PHENOTYPE | PATIENT | Catel-Manzke syndrome | DESBUQUOIS DYSPLASIA | HYPERPHALANGISM | Pierre-Robin sequence | Tooth Abnormalities - diagnosis | Brachydactyly - physiopathology | Deafness - genetics | Tooth Abnormalities - physiopathology | Mouth Abnormalities - diagnosis | Pierre Robin Syndrome - physiopathology | Humans | Fingers - physiopathology | Hand Deformities, Congenital - diagnosis | Intellectual Disability - genetics | Heart Defects, Congenital - genetics | Female | Hydro-Lyases - genetics | Fingers - abnormalities | Abnormalities, Multiple - genetics | Tooth Abnormalities - genetics | Prenatal Diagnosis | Deafness - physiopathology | Fetus - physiopathology | Mouth Abnormalities - genetics | Abnormalities, Multiple - physiopathology | Deafness - diagnosis | Pierre Robin Syndrome - diagnosis | Intellectual Disability - physiopathology | Pregnancy | Pierre Robin Syndrome - genetics | Hand Deformities, Congenital - genetics | Brachydactyly - genetics | Hand Deformities, Congenital - physiopathology | Abnormalities, Multiple - diagnosis | Intellectual Disability - diagnosis | Brachydactyly - diagnosis | Heterozygote | Heart Defects, Congenital - physiopathology | Mutation | Mouth Abnormalities - physiopathology | Hypoplasia | Radiography | Edema | Prenatal diagnosis | Fetuses | Fingers & toes | Prenatal development | Gestation | Brachydactyly | Clubfoot
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6. Full Text Aberrant salience network (bilateral insula and anterior cingulate cortex) connectivity during information processing in schizophrenia
by White, Thomas P and Joseph, Verghese and Francis, Susan T and Liddle, Peter F
Schizophrenia Research, ISSN 0920-9964, 2010, Volume 123, Issue 2, pp. 105 - 115
Abstract A salience network, comprising bilateral insula and anterior cingulate cortex (ACC), is thought to play a role in recruiting relevant brain regions... 
Psychiatry | Schizophrenia | Functional network connectivity | Salience network | PSYCHIATRY | RESTING-STATE | FUNCTIONAL CONNECTIVITY | 1ST-EPISODE SCHIZOPHRENIA | RESPONSES | DEFAULT-MODE | ANTIPSYCHOTICS | PSYCHOSIS | BRAIN-FUNCTION | NEURAL MECHANISMS | WORKING-MEMORY | Touch Perception | Vibration | Image Enhancement | Frontal Lobe - physiopathology | Humans | Male | Brain Mapping - methods | Functional Laterality | Schizophrenic Psychology | Parietal Lobe - physiopathology | Case-Control Studies | Oxygen - blood | Cerebral Cortex - physiopathology | Echo-Planar Imaging | Neuropsychological Tests | Magnetic Resonance Imaging | Temporal Lobe - physiopathology | Image Processing, Computer-Assisted | Fingers | Schizophrenia - physiopathology | Gyrus Cinguli - physiopathology | Adult | Female | Nerve Net - physiopathology | Brain
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7. Full Text Role of hyperactive cerebellum and motor cortex in Parkinson's disease
by Yu, Hong and Sternad, Dagmar and Corcos, Daniel M and Vaillancourt, David E
NeuroImage, ISSN 1053-8119, 03/2007, Volume 35, Issue 1, pp. 222 - 233
Previous neuroimaging studies have found hyperactivation in the cerebellum and motor cortex and hypoactivation in the basal ganglia in patients with... 
VISUALIZATION | CORTICAL INHIBITION | BASAL GANGLIA DISORDERS | NEUROSCIENCES | NEUROIMAGING | FUNCTIONAL-ANATOMY | TRANSCRANIAL MAGNETIC STIMULATION | DEEP BRAIN-STIMULATION | REPETITIVE MOVEMENTS | RADIOLOGY, NUCLEAR MEDICINE & MEDICAL IMAGING | PET | FMRI | HEMIPARKINSONIAN PATIENTS | Data Interpretation, Statistical | Humans | Middle Aged | Male | Motor Cortex - physiopathology | Cerebellum - physiopathology | Parkinson Disease - physiopathology | Tremor - physiopathology | Psychomotor Performance - physiology | Oxygen - blood | Neuropsychological Tests | Magnetic Resonance Imaging | Fingers - physiology | Movement - physiology | Putamen - physiopathology | Hypokinesia - physiopathology | Brain Mapping | Female | Aged | Muscle Rigidity - physiopathology | Parkinson's disease | Studies | Brain | Hypotheses | Medical imaging | Dopamine | Hyperactivity | Parkinsons disease
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8. Full Text The role and regulation of MAFbx/atrogin-1 and MuRF1 in skeletal muscle atrophy
by Foletta, Victoria C and White, Lloyd J and Larsen, Amy E and Léger, Bertrand and Russell, Aaron P
Pflügers Archiv - European Journal of Physiology, ISSN 0031-6768, 3/2011, Volume 461, Issue 3, pp. 325 - 335
Skeletal muscle atrophy occurs in many chronic diseases and disuse conditions. Its severity reduces patient recovery, independence and quality of life. The... 
Regeneration | Myosin heavy chain | Myogenic response | Biomedicine | Human Physiology | Muscle damage | Skeletal muscle | RHEUMATOID-ARTHRITIS | DISUSE ATROPHY | PHYSIOLOGY | MYOSTATIN GENE-EXPRESSION | FOXO TRANSCRIPTION FACTORS | TUMOR-BEARING MICE | IN-VIVO | SPINAL-CORD-INJURY | RING FINGER PROTEINS | F-BOX PROTEIN | UBIQUITIN-PROTEASOME PATHWAY | Muscular Atrophy - metabolism | Fasting - physiology | Humans | SKP Cullin F-Box Protein Ligases - physiology | Immobilization - adverse effects | Pulmonary Disease, Chronic Obstructive - physiopathology | Sepsis - physiopathology | Ubiquitin-Protein Ligases - physiology | Tripartite Motif Proteins | Acquired Immunodeficiency Syndrome - physiopathology | Animals | Renal Insufficiency - physiopathology | Aging - physiology | Diabetes Mellitus - physiopathology | Spinal Cord Injuries - physiopathology | Muscle Proteins - physiology | Cachexia - physiopathology | Denervation | Ubiquitin | Chronic diseases | Messenger RNA | Muscle proteins | Ligases | Myosin
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