X
Search Filters
Format Format
Format Format
X
Sort by Item Count (A-Z)
Filter by Count
Journal Article (210) 210
Book Chapter (3) 3
Patent (2) 2
Book / eBook (1) 1
Conference Proceeding (1) 1
Publication (1) 1
Web Resource (1) 1
more...
Subjects Subjects
Subjects Subjects
X
Sort by Item Count (A-Z)
Filter by Count
humans (111) 111
male (72) 72
clinical neurology (66) 66
female (61) 61
index medicus (54) 54
middle aged (47) 47
adult (45) 45
aged (32) 32
neurosciences (32) 32
mutation (26) 26
neurology (20) 20
genetics & heredity (19) 19
pedigree (19) 19
gene (17) 17
genetic aspects (17) 17
parkinson's disease (17) 17
child (16) 16
deep brain stimulation (16) 16
diagnosis (16) 16
adolescent (15) 15
dystonia (15) 15
mutations (15) 15
genotype (14) 14
spastic paraplegia, hereditary - genetics (14) 14
genetics (13) 13
hereditary spastic paraplegia (13) 13
dna mutational analysis (12) 12
magnetic resonance imaging (12) 12
phenotype (12) 12
analysis (11) 11
tremor (11) 11
child, preschool (10) 10
deep brain stimulation - methods (10) 10
essential tremor (10) 10
nervous system diseases (10) 10
treatment outcome (10) 10
animals (9) 9
base sequence (9) 9
family (9) 9
movement disorders (9) 9
mutation - genetics (9) 9
risk factors (9) 9
subthalamic nucleus (9) 9
syndrome (9) 9
young adult (9) 9
copper (8) 8
dementia (8) 8
disease (8) 8
dna-binding proteins - genetics (8) 8
family health (8) 8
genetic research (8) 8
locus (8) 8
mutation, missense (8) 8
parkinson’s disease (8) 8
proteins (8) 8
research (8) 8
abridged index medicus (7) 7
age of onset (7) 7
amino acid substitution (7) 7
apoptosis regulatory proteins - genetics (7) 7
epilepsy (7) 7
gene mutations (7) 7
genetic linkage (7) 7
lod score (7) 7
neurology. diseases of the nervous system (7) 7
nuclear proteins - genetics (7) 7
severity of illness index (7) 7
wilson's disease (7) 7
codon - genetics (6) 6
congenital, hereditary, and neonatal diseases and abnormalities (6) 6
dystonia musculorum deformans - genetics (6) 6
genes (6) 6
membrane proteins - genetics (6) 6
nervous system (6) 6
neuroimaging (6) 6
parkinson disease - therapy (6) 6
protein (6) 6
spasticity (6) 6
abnormalities, multiple - genetics (5) 5
abnormalities, multiple - pathology (5) 5
activation (5) 5
aged, 80 and over (5) 5
association (5) 5
basal ganglia (5) 5
case report (5) 5
chromosome mapping (5) 5
copper - metabolism (5) 5
dbs (5) 5
diagnosis, differential (5) 5
electroencephalography (5) 5
essential tremor - genetics (5) 5
experience (5) 5
genes, dominant (5) 5
genetic testing (5) 5
health aspects (5) 5
hepatolenticular degeneration - drug therapy (5) 5
hepatolenticular degeneration - physiopathology (5) 5
linkage (5) 5
linkage analysis (5) 5
nerve tissue proteins - genetics (5) 5
more...
Library Location Library Location
Language Language
Publication Date Publication Date
Click on a bar to filter by decade
Slide to change publication date range


Application of Clinical Genetics, ISSN 1178-704X, 01/2017, Volume 10, pp. 9 - 19
Wilson's disease (WD), albeit relatively rare, is an important genetic metabolic disease because of highly effective therapies that can be lifesaving. It is a... 
Chelation | Wilson’s disease | ATP7B | Copper | Gene therapy | Medical research | Care and treatment | Gene mutations | Medical care | Medicine, Experimental | Development and progression | Genetic aspects | Comparative analysis | Wilson's disease | Health aspects | Quality management | Women | Enzymes | Hepatitis | Liver diseases | Transplants & implants | Laboratories | Nervous system | copper | gene therapy | chelation
Journal Article
Lancet neurology, ISSN 1474-4422, 2015, Volume 14, Issue 10, pp. 992 - 1001
Journal Article
CONTINUUM: Lifelong Learning in Neurology, ISSN 1080-2371, 04/2018, Volume 24, Issue 2, Spinal Cord Disorders, pp. 523 - 550
PURPOSE OF REVIEWHereditary myelopathies are very diverse genetic disorders, and many of them represent a widespread neurodegenerative process rather than... 
Journal Article
2/2017, Volume 10, Issue 2, 12
Book Review
Neurosurgery Clinics of North America, ISSN 1042-3680, 04/2019, Volume 30, Issue 2, pp. 147 - 159
Deep brain stimulation is now the most common surgical treatment of tremor. Tremor can be classified as action or resting tremor and is one of the most common... 
Microelectrode | Closed loop | Deep brain stimulation | Image guided | Thalamic | Essential tremor | SURGERY | DIAGNOSIS | EFFICACY | THALAMOTOMY | CLINICAL NEUROLOGY | PARKINSON | SUBTHALAMIC NUCLEUS | DBS | DISEASE | COMMON | COMPLICATIONS | QUALITY-OF-LIFE | Treatment Outcome | Tremor - therapy | Thalamus - physiopathology | Tremor - physiopathology | Humans | Deep Brain Stimulation - methods
Journal Article
Journal of the Neurological Sciences, ISSN 0022-510X, 2013, Volume 335, Issue 1, pp. 231 - 232
Abstract Mutations in the NIPA1 cause autosomal dominant form of hereditary spastic paraplegia. Allelic heterogeneity of known NIPA1 mutations is quite limited... 
Neurology | Hereditary spastic paraplegia | Autosomal dominant | NIPA1 | Spinal cord atrophy | Apparently sporadic | De novo mutation | GENOTYPE | FORM | SPG6 MUTATION | NEUROSCIENCES | CLINICAL NEUROLOGY | FAMILY | GENE | AUTOSOMAL-DOMINANT | Spastic Paraplegia, Hereditary - genetics | DNA Mutational Analysis | Membrane Proteins - genetics | Humans | Middle Aged | Adult | Female | Male | Mutation - genetics
Journal Article
Journal Article
Parkinsonism and Related Disorders, ISSN 1353-8020, 2013, Volume 19, Issue 12, pp. 1100 - 1105
Journal Article
Continuum: Lifelong Learning in Neurology, ISSN 1080-2371, 08/2011, Volume 17, Issue 4, Spinal Cord, Root, and Plexus Disorders, pp. 800 - 815
ABSTRACTHereditary myelopathies comprise a diverse group of disorders whose signs and symptoms include progressive spasticity, limb ataxia without additional... 
Journal Article
Neurology, ISSN 0028-3878, 01/2017, Volume 88, Issue 2, pp. 114 - 115
Journal Article
Tremor and other hyperkinetic movements (New York, N.Y.), ISSN 2160-8288, 2012, Volume 2
The pathophysiology of psychogenic movement disorders, including psychogenic tremor (PT), is only emerging. This is a single case report of a patient who met... 
Journal Article
Muscle & nerve, ISSN 0148-639X, 2018, Volume 57, Issue 2, pp. 245 - 254
Journal Article