X
Search Filters
Format Format
Subjects Subjects
Subjects Subjects
X
Sort by Item Count (A-Z)
Filter by Count
reep1 (27) 27
index medicus (21) 21
hereditary spastic paraplegia (20) 20
humans (19) 19
female (17) 17
male (13) 13
membrane transport proteins - genetics (13) 13
spastic paraplegia, hereditary - genetics (13) 13
adult (12) 12
middle aged (12) 12
adolescent (11) 11
genetics & heredity (11) 11
clinical neurology (10) 10
child (9) 9
mutation (9) 9
spg31 (9) 9
neurosciences (8) 8
young adult (8) 8
atl1 (7) 7
child, preschool (7) 7
infant (7) 7
mutation - genetics (7) 7
spast (7) 7
spastic paraplegia (7) 7
spastin (7) 7
spectrum (7) 7
aged (6) 6
dna mutational analysis (6) 6
pedigree (6) 6
phenotype (6) 6
adenosine triphosphatases - genetics (5) 5
genetic aspects (5) 5
heat shock proteins (5) 5
paraparesis (5) 5
protein (5) 5
spastic paraplegia, hereditary - physiopathology (5) 5
type-31 (5) 5
analysis (4) 4
diagnosis (4) 4
gene (4) 4
gene mutations (4) 4
genetic disorders (4) 4
gtp-binding proteins - genetics (4) 4
membrane proteins - genetics (4) 4
neurology (4) 4
proteins (4) 4
spg4 (4) 4
abnormalities, multiple - genetics (3) 3
age of onset (3) 3
animals (3) 3
autosomal-dominant (3) 3
chromosomes, human, pair 2 (3) 3
deletions (3) 3
endoplasmic-reticulum (3) 3
family (3) 3
genotype (3) 3
kif5a (3) 3
membrane proteins (3) 3
mouse model (3) 3
mutations (3) 3
paralysis, spastic (3) 3
paraplegia (3) 3
polymerase chain reaction (3) 3
research (3) 3
seipin (3) 3
sequence deletion (3) 3
abridged index medicus (2) 2
age (2) 2
article (2) 2
asian continental ancestry group (2) 2
association (2) 2
atlastin (2) 2
autosomal dominant (2) 2
base sequence (2) 2
biochemistry & molecular biology (2) 2
cells (2) 2
cohort studies (2) 2
electromyography (2) 2
expression (2) 2
family health (2) 2
frequency (2) 2
frequent (2) 2
gene deletion (2) 2
gene spg4 (2) 2
genes (2) 2
genetic association studies (2) 2
genetic linkage (2) 2
genetic predisposition to disease - genetics (2) 2
genetic research (2) 2
genetic screening (2) 2
gtp phosphohydrolases - genetics (2) 2
hereditary motor neuropathy (2) 2
hereditary spastic paraparesis (2) 2
hereditary spastic parplegia (2) 2
hsp60 (2) 2
intellectual disability - genetics (2) 2
korea (2) 2
medicine & public health (2) 2
medicine, general & internal (2) 2
membrane transport proteins - metabolism (2) 2
more...
Language Language
Publication Date Publication Date
Click on a bar to filter by decade
Slide to change publication date range


Chinese Journal of Medical Genetics, ISSN 1003-9406, 06/2019, Volume 36, Issue 6, pp. 581 - 583
Journal Article
Journal of Clinical Neurology (Korea), ISSN 1738-6586, 2014, Volume 10, Issue 3, pp. 257 - 261
Journal Article
JOURNAL OF CELL BIOLOGY, ISSN 0021-9525, 08/2019, Volume 218, Issue 8, pp. 2583 - 2599
Lipid droplets (LDs) are neutral lipid storage organelles that transfer lipids to various organelles including peroxisomes. Here, we show that the hereditary... 
REEP1 | LOCALIZATION | CELLS | BIOGENESIS | STRUCTURAL BASIS | BEHAVIOR | PARAPLEGIA | PEROXIDATION | PROTEINS | CELL BIOLOGY | Pathogenesis | Trafficking | Paraplegics | Lipid peroxidation | Lipids | Tethering | Metabolism | Organelles | Fatty acids | Membrane proteins | Proteins | Hereditary spastic paraplegia | Paraplegia | Peroxisomes | Morphology | Tethers | Droplets | Spastic paraplegia | Adenosine triphosphatase | Peroxidation
Journal Article
Human Mutation, ISSN 1059-7794, 02/2018, Volume 39, Issue 2, pp. 193 - 196
Single‐nucleotide variants that abolish the stop codon (“nonstop” alterations) are a unique type of substitution in genomic DNA. Whether they confer... 
REEP1 | motor neuron disorder | hereditary spastic paraplegia | aggregation | Charcot‐Marie‐Tooth disease | nonstop variant | hereditary motor neuropathy | Charcot-Marie-Tooth disease | CRYPTIC AMYLOIDOGENIC ELEMENTS | SPASTIC PARAPLEGIA | GENETICS & HEREDITY | MUTATIONS | SPATACSIN
Journal Article
Journal of Neurology, ISSN 0340-5354, 03/2019, Volume 266, Issue 3, pp. 735 - 744
SPG31 is a hereditary spastic paraplegia (HSP) caused by pathogenic variants in the REEP1 gene. The phenotype (SPG31) has occasionally been described with... 
Hereditary spastic paraplegia | REEP1 | Carpal tunnel syndrome | Polyneuropathy | Nerve conduction studies | SPG31 | DIAGNOSIS | MUTATIONS | SPECTRUM | ASSOCIATION | CLINICAL NEUROLOGY | Phenotypes | Compression | Spasticity | Nervous system | Peripheral neuropathy | Patients | Nerve conduction | Paraplegia | Autonomic nervous system | Paralysis | Spastic paraplegia | EMG
Journal Article
Journal Article
Human Molecular Genetics, ISSN 0964-6906, 02/2017, Volume 26, Issue 4, pp. 674 - 685
Journal Article
Human Mutation, ISSN 1059-7794, 10/2011, Volume 32, Issue 10, pp. 1118 - 1127
Journal Article
Journal Article
Journal of the Neurological Sciences, ISSN 0022-510X, 2015, Volume 364, pp. 116 - 121
Journal Article