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index medicus (103) 103
heredodegenerative disorders, nervous system - physiopathology (94) 94
humans (93) 93
heredodegenerative disorders, nervous system - genetics (80) 80
clinical neurology (50) 50
neurosciences (48) 48
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animals (39) 39
heredodegenerative disorders, nervous system - metabolism (27) 27
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neurology (21) 21
abridged index medicus (20) 20
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brain - pathology (16) 16
heredodegenerative disorders, nervous system - diagnosis (16) 16
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adolescent (14) 14
brain - physiopathology (13) 13
genetic aspects (13) 13
magnetic resonance imaging (13) 13
brain (12) 12
genetic predisposition to disease - genetics (12) 12
ataxia (11) 11
disease progression (11) 11
mutations (11) 11
neurodegeneration (11) 11
age of onset (10) 10
heredodegenerative disorders, nervous system - complications (10) 10
neurons - metabolism (10) 10
trinucleotide repeat expansion - genetics (10) 10
alzheimers-disease (9) 9
brain - metabolism (9) 9
central-nervous-system (9) 9
child, preschool (9) 9
degeneration (9) 9
dna mutational analysis (9) 9
nervous system diseases (9) 9
peptides - genetics (9) 9
proteins (9) 9
central nervous system - physiopathology (8) 8
dementia (8) 8
diagnosis (8) 8
genetic testing (8) 8
genetics & heredity (8) 8
heredodegenerative disorders, nervous system - therapy (8) 8
nervous system (8) 8
neurons - pathology (8) 8
pedigree (8) 8
predictive value of tests (8) 8
article (7) 7
biochemistry & molecular biology (7) 7
cells, cultured (7) 7
diagnosis, differential (7) 7
disease models, animal (7) 7
genotype (7) 7
neurons (7) 7
parkinson's disease (7) 7
peripheral nerves - physiopathology (7) 7
research (7) 7
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aged (6) 6
huntington's disease (6) 6
huntingtons-disease (6) 6
immunohistochemistry (6) 6
inclusion bodies - metabolism (6) 6
messenger-rna (6) 6
nerve fibers, myelinated - pathology (6) 6
neuropathy (6) 6
oxidative stress (6) 6
peripheral nervous system diseases - physiopathology (6) 6
physiological aspects (6) 6
polyglutamine (6) 6
protein (6) 6
analysis (5) 5
ataxia - genetics (5) 5
central nervous system - pathology (5) 5
cerebellar ataxia - genetics (5) 5
cerebellar ataxia - physiopathology (5) 5
dementia - genetics (5) 5
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dna repair (5) 5
dna repair - genetics (5) 5
fragile x syndrome - genetics (5) 5
gene mutations (5) 5
genes (5) 5
genetics (5) 5
heredodegenerative disorders, nervous system - etiology (5) 5
huntington disease - genetics (5) 5
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Journal Article
Brain, ISSN 0006-8950, 05/2016, Volume 139, Issue 5, pp. 1378 - 1393
Journal Article
Brain, ISSN 0006-8950, 2014, Volume 137, Issue 1, pp. 69 - 77
Journal Article
Journal Article
Brain, ISSN 0006-8950, 01/2014, Volume 137, Issue 1, pp. 57 - 68
Journal Article
Neurology, ISSN 0028-3878, 05/2005, Volume 64, Issue 10, pp. 1810 - 1812
Pantothenate kinase-associated neurodegeneration (PKAN) is a rare autosomal-recessive disorder caused by mutations in the PANK2 gene. The authors report... 
HALLERVORDEN-SPATZ-SYNDROME | CLINICAL NEUROLOGY | DISEASE | Heredodegenerative Disorders, Nervous System - genetics | Obsessive-Compulsive Disorder - physiopathology | Tics - enzymology | Genetic Testing | Humans | Middle Aged | Heredodegenerative Disorders, Nervous System - enzymology | Male | Brain Diseases, Metabolic, Inborn - enzymology | Mental Disorders - genetics | Obsessive-Compulsive Disorder - genetics | Globus Pallidus - metabolism | Pyramidal Tracts - physiopathology | Mental Disorders - enzymology | Obsessive-Compulsive Disorder - enzymology | Pantothenate Kinase-Associated Neurodegeneration - physiopathology | DNA Mutational Analysis | Adult | Female | Brain Diseases, Metabolic, Inborn - genetics | Globus Pallidus - physiopathology | Child | Globus Pallidus - pathology | Phosphotransferases (Alcohol Group Acceptor) - genetics | Heredodegenerative Disorders, Nervous System - physiopathology | Mutation - genetics | Brain Diseases, Metabolic, Inborn - physiopathology | Iron - metabolism | Tics - genetics | Mental Disorders - physiopathology | Pantothenate Kinase-Associated Neurodegeneration - enzymology | Iron Metabolism Disorders - enzymology | Iron Metabolism Disorders - physiopathology | Phenotype | Coenzyme A - biosynthesis | Iron Metabolism Disorders - genetics | Pantothenate Kinase-Associated Neurodegeneration - genetics | Adolescent | Tics - physiopathology | Index Medicus | Abridged Index Medicus
Journal Article
Journal of Neuroscience Research, ISSN 0360-4012, 2009, Volume 87, Issue 8, pp. 1748 - 1759
This study characterized the therapeutic benefits of combining hematogenous cell replacement with lentiviral-mediated gene transfer of galactosylceramidase... 
APP | Myelin | Twitcher | Lipid rafts | Dying-back pathology | Axonal degeneration | Microdomains | myelin | lipid rafts | LEUCODYSTROPHY | BONE-MARROW-TRANSPLANTATION | MUTANT TWITCHER | axonal degeneration | NEUROSCIENCES | microdomains | MURINE MODEL | dying-back pathology | ENZYME REPLACEMENT | MOUSE MODEL | IN-VIVO | PERIPHERAL NEUROPATHY | CENTRAL-NERVOUS-SYSTEM | GLOBOID-CELL LEUKODYSTROPHY | Heredodegenerative Disorders, Nervous System - genetics | Heredodegenerative Disorders, Nervous System - therapy | Hereditary Central Nervous System Demyelinating Diseases - physiopathology | Bone Marrow Transplantation - methods | Leukodystrophy, Globoid Cell - physiopathology | Mice, Neurologic Mutants | Galactosylceramidase - genetics | Lentivirus - genetics | Leukodystrophy, Globoid Cell - therapy | Disease Models, Animal | Hereditary Central Nervous System Demyelinating Diseases - genetics | Animals, Newborn | Nerve Regeneration - genetics | Gene Transfer Techniques | Mice, Inbred C57BL | Survival Rate | Treatment Outcome | Hereditary Central Nervous System Demyelinating Diseases - therapy | Heredodegenerative Disorders, Nervous System - physiopathology | Genetic Vectors - genetics | Macrophages - metabolism | Animals | Leukodystrophy, Globoid Cell - genetics | Mice | Hematopoietic Stem Cell Transplantation - methods | Genetic Therapy - methods | Index Medicus
Journal Article
Neuron, ISSN 0896-6273, 11/2003, Volume 40, Issue 4, pp. 797 - 806
Journal Article
Neurology, ISSN 0028-3878, 05/2009, Volume 72, Issue 18, pp. 1607 - 1613
Journal Article
Neurology, ISSN 0028-3878, 07/2007, Volume 69, Issue 2, pp. 166 - 171
Journal Article
Journal Article
Journal Article
Neurobiology of Disease, ISSN 0969-9961, 2006, Volume 25, Issue 2, pp. 252 - 265
Abstract The accumulation of misfolded proteins is associated with various neurodegenerative conditions. Peripheral myelin protein 22 (PMP22) is a hereditary... 
Neurology | Protein misfolding | Aggresomes | Schwann cells | Heat shock proteins | Neuropathy | Autophagosome | Proteasome | Heat shock | proteasome | UBIQUITIN-PROTEASOME SYSTEM | MOLECULAR CHAPERONES | heat shock | HEAT-SHOCK | ALPHA-SYNUCLEIN | NEUROSCIENCES | PERIPHERAL MYELIN PROTEIN-22 | NEUROPATHY MODEL | INCLUSION-BODIES | aggresomes | protein misfolding | neuropathy | SCHWANN-CELLS | autophagosome | heat shock proteins | INTERMEDIATE-FILAMENTS | PARKINSONS-DISEASE | Heredodegenerative Disorders, Nervous System - genetics | Molecular Chaperones - metabolism | Cytoplasm - metabolism | Autophagy - physiology | Peripheral Nervous System Diseases - physiopathology | Cytoplasm - pathology | Mice, Neurologic Mutants | Nerve Fibers, Myelinated - pathology | Phagosomes - ultrastructure | Peripheral Nerves - metabolism | Inclusion Bodies - metabolism | Peripheral Nervous System Diseases - genetics | Animals, Newborn | Nerve Fibers, Myelinated - metabolism | Microscopy, Electron, Transmission | Inclusion Bodies - ultrastructure | Heat-Shock Proteins - metabolism | Phagosomes - metabolism | Cells, Cultured | Rats | Heredodegenerative Disorders, Nervous System - physiopathology | Peripheral Nerves - pathology | Protein Folding | Peripheral Nerves - physiopathology | Peripheral Nervous System Diseases - metabolism | Animals | Mice | Heredodegenerative Disorders, Nervous System - metabolism | Proteasome Endopeptidase Complex - metabolism | Myelin Proteins - metabolism | Proteins | Index Medicus
Journal Article
Neurology, ISSN 0028-3878, 2005, Volume 65, Issue 10, pp. 1538 - 1543
Background: Neuronal intranuclear hyaline inclusion disease ( NIHID), a rare neurodegenerative disease in which eosinophilic intranuclear inclusions develop... 
MULTIPLE SYSTEM ATROPHY | DIAGNOSIS | POLYNEUROPATHY | BODY DISEASE | FAMILIAL VISCERAL NEUROPATHY | RECTAL BIOPSY | INVOLVEMENT | BODIES | ATAXIA | CLINICAL NEUROLOGY | DEGENERATION | Neurons - pathology | Predictive Value of Tests | Sensation Disorders - physiopathology | Humans | Middle Aged | Sensation Disorders - etiology | Male | Ganglia, Spinal - physiopathology | Anterior Horn Cells - physiopathology | Ganglia, Autonomic - physiopathology | Autonomic Nervous System Diseases - diagnosis | Intestinal Diseases - physiopathology | Nervous System - physiopathology | Ganglia, Autonomic - pathology | Hereditary Sensory and Motor Neuropathy - physiopathology | Hereditary Sensory and Motor Neuropathy - complications | Muscular Atrophy - physiopathology | Nervous System - pathology | Fatal Outcome | Muscular Atrophy - diagnosis | Female | Intestinal Diseases - etiology | Muscular Atrophy - etiology | Diagnosis, Differential | Heredodegenerative Disorders, Nervous System - complications | Autonomic Nervous System Diseases - complications | Anterior Horn Cells - pathology | Intranuclear Inclusion Bodies - genetics | Heredodegenerative Disorders, Nervous System - diagnosis | Heredodegenerative Disorders, Nervous System - physiopathology | Peripheral Nerves - pathology | Disease Progression | Intranuclear Inclusion Bodies - pathology | Peripheral Nerves - physiopathology | Intestinal Diseases - diagnosis | Hereditary Sensory and Motor Neuropathy - diagnosis | Autonomic Nervous System Diseases - physiopathology | Pedigree | Ganglia, Spinal - pathology | Aged | Sensation Disorders - diagnosis | Intranuclear Inclusion Bodies - metabolism | Index Medicus | Abridged Index Medicus
Journal Article