X
Search Filters
Format Format
Subjects Subjects
Subjects Subjects
X
Sort by Item Count (A-Z)
Filter by Count
cmt2a (41) 41
humans (31) 31
charcot-marie-tooth disease - genetics (28) 28
mitochondrial proteins - genetics (26) 26
index medicus (25) 25
neurosciences (25) 25
clinical neurology (23) 23
mfn2 (20) 20
charcot-marie-tooth disease (19) 19
mutation (19) 19
female (18) 18
membrane proteins - genetics (18) 18
adult (16) 16
gtp phosphohydrolases (16) 16
male (16) 16
neuropathy (15) 15
gtp phosphohydrolases - genetics (11) 11
middle aged (11) 11
charcot-marie-tooth (10) 10
mfn2 mutations (10) 10
mutation - genetics (10) 10
adolescent (9) 9
charcot-marie-tooth disease - physiopathology (9) 9
disease (9) 9
gene (9) 9
charcot-marie-tooth disease - pathology (8) 8
child (8) 8
mitochondrial fusion (8) 8
mitofusin 2 (8) 8
neurology (8) 8
pedigree (8) 8
phenotype (8) 8
axonal neuropathy (7) 7
child, preschool (7) 7
dna mutational analysis (7) 7
features (7) 7
genetic aspects (7) 7
genetics & heredity (7) 7
life sciences (7) 7
mitochondria (7) 7
type-2 (7) 7
animals (6) 6
fusion (6) 6
genetics (6) 6
human genetics (6) 6
mitofusin 2 mutations (6) 6
biochemistry & molecular biology (5) 5
charcot‐marie‐tooth disease (5) 5
cmt2 (5) 5
genotype (5) 5
hereditary motor (5) 5
mice (5) 5
mitochondria - metabolism (5) 5
mitochondrial dna (5) 5
mitofusin-2 (5) 5
motor (5) 5
mutations (5) 5
onset (5) 5
optic atrophy (5) 5
peripheral neuropathy (5) 5
young adult (5) 5
age of onset (4) 4
article (4) 4
atrophy (4) 4
cell biology (4) 4
charcot-marie-tooth disease - diagnosis (4) 4
disease models, animal (4) 4
fission (4) 4
gene mutations (4) 4
gtpase (4) 4
marie-tooth disease (4) 4
mitochondrial dynamics (4) 4
mitofusin (4) 4
neural conduction - physiology (4) 4
neurodegeneration (4) 4
neurons (4) 4
neuropathy type 2a (4) 4
proteins (4) 4
aged (3) 3
amino acid sequence (3) 3
biomedicine (3) 3
biopsy (3) 3
brain (3) 3
cells, cultured (3) 3
clinical-features (3) 3
defects (3) 3
disease type-2 (3) 3
dominant optic atrophy (3) 3
fibroblasts (3) 3
fibroblasts - pathology (3) 3
genetic predisposition to disease (3) 3
genetic predisposition to disease - genetics (3) 3
genetic research (3) 3
marie-tooth-disease (3) 3
medical colleges (3) 3
mfn1 (3) 3
mitochondria - ultrastructure (3) 3
mitofusin-2 gene (3) 3
molecular sequence data (3) 3
morphology (3) 3
more...
Language Language
Publication Date Publication Date
Click on a bar to filter by decade
Slide to change publication date range


ISSN 1364-6745, 2017
Charcot-Marie-Tooth disease (CMT) refers to a genetically heterogeneous group of disorders which cause a peripheral motor and sensory neuropathy. The overall... 
MFN2 | CMT2A | mosaicism | Charcot-Marie-tooth disease
Journal Article
Journal Article
Journal Article
Neuromuscular Disorders, ISSN 0960-8966, 02/2019, Volume 29, Issue 2, pp. 134 - 137
Dominant mutations in cause a range of phenotypes, including severe, early-onset axonal neuropathy, “classical CMT2”, and late-onset axonal neuropathy. We... 
Late-onset axonal neuropathy | Charcot-Marie-Tooth disease Type 2 | Multigenerational affection | Variable penetrance | CMT2A | GENE | NEUROSCIENCES | CLINICAL NEUROLOGY | Glycine | Medical colleges | Children's hospitals
Journal Article
Cell Metabolism, ISSN 1550-4131, 11/2017, Volume 26, Issue 5, pp. 719 - 737.e6
Journal Article
EMBO reports, ISSN 1469-221X, 08/2018, Volume 19, Issue 8, pp. e45241 - n/a
Charcot–Marie–Tooth disease type 2A (CMT2A) is caused by dominant alleles of the mitochondrial pro‐fusion factor Mitofusin 2 (MFN2). To address the... 
MFN2 | CMT2A | mitochondrial fusion | mitofusin | peripheral neuropathy | MAMMALIAN HOMOLOGS | BIOCHEMISTRY & MOLECULAR BIOLOGY | MARIE-TOOTH DISEASE | AXONAL-TRANSPORT | OPTIC ATROPHY | CELL BIOLOGY | HEREDITARY MOTOR | 2 MUTATIONS | NEURONS | FISSION | PROTEINS | Mitochondrial Dynamics | Neurons - pathology | Neuromuscular Junction - metabolism | Humans | Gain of Function Mutation - genetics | Drosophila Proteins - metabolism | Motor Activity | Mitochondria - ultrastructure | Charcot-Marie-Tooth Disease - genetics | Drosophila melanogaster - metabolism | Neurons - ultrastructure | Membrane Proteins - metabolism | Neurons - metabolism | Disease Models, Animal | Amino Acid Sequence | Membrane Proteins - genetics | Mitochondria - metabolism | Drosophila Proteins - chemistry | Drosophila melanogaster - ultrastructure | Charcot-Marie-Tooth Disease - pathology | Animals | Membrane Proteins - chemistry | Alleles | Mice | Charcot-Marie-Tooth Disease - physiopathology | Drosophila Proteins - genetics | Loss of Function Mutation - genetics | Motor neurons | GTP | Neurons | Pathogenesis | Oxidative metabolism | Drosophila | Agglomeration | Mitochondrial DNA | Neuropathy | Metabolism | Defects | Mitochondria | Insects | Morphology | Charcot-Marie-Tooth disease | Neuromuscular junctions | Mutation | Guanosinetriphosphatase | Life Sciences | Neuroscience | Membrane & Intracellular Transport
Journal Article
Muscle & Nerve, ISSN 0148-639X, 03/2013, Volume 47, Issue 3, pp. 385 - 395
Journal Article
Journal of Neurology, ISSN 0340-5354, 7/2015, Volume 262, Issue 7, pp. 1678 - 1680
Mutations in the mitofusin 2 (MFN2) gene cause CMT2A the most common form of autosomal dominant axonal Charcot–Marie–Tooth (CMT). In addition, mutations in... 
Neurology | Neurosciences | Medicine & Public Health | HSMN VI | MFN2 | CMT2A | Neuroradiology | Bilateral acute optic neuropathy | CHARCOT-MARIE-TOOTH | MITOFUSIN-2 | CLINICAL NEUROLOGY | GTP Phosphohydrolases - genetics | Humans | Adult | Male | Mitochondrial Proteins - genetics | Mutation - genetics | Optic Nerve Diseases - genetics | Gene mutations | Research
Journal Article
Current Protein and Peptide Science, ISSN 1389-2037, 2018, Volume 19, Issue 9, pp. 850 - 857
Journal Article