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UnknownLocalization of the gene for distal hereditary motor neuronopathy VII (dHMN-VII) to chromosome 2q14.
Not available
S-EPMC1226107 | biostudies-literature
UnknownMutated sigma-1R disrupts cell homeostasis in dHMN patient cells.
Not available
S-EPMC11981993 | biostudies-literature
UnknownHeterogeneous Clinical Phenotypes of dHMN Caused by Mutation in HSPB1 Gene: A Case Series.
Not available
S-EPMC9599773 | biostudies-literature
ProteomicsREEP1 Accumulation Disrupts ER Integrity and Drives Spinal Motoneuron Degeneration in Distal Hereditary Motor Neuropathy
REEP1 contributes to the shaping of the endoplasmic reticulum (ER) through conserved transmembrane hairpins (THs) and a long C-terminal amphipathic helix. Its loss-of-function causes spastic paraplegia due to degeneration of axons of cortical motoneurons projecting to spinal motoneurons. Patients wi...
ORGANISM(S): Homo sapiens (Human) 
2026-01-19 | PXD067700 | Pride
Reep1 Dhmn Membrane shaping Endoplasmic reticulum Ubiquitination Hsp 
UnknownGenetic and Clinical Features in 24 Chinese Distal Hereditary Motor Neuropathy Families.
Not available
S-EPMC7767876 | biostudies-literature
UnknownExome sequencing reveals HINT1 mutations as a cause of distal hereditary motor neuropathy.
Not available
S-EPMC4023208 | biostudies-literature
UnknownDistal hereditary motor neuropathy in Korean patients with a small heat shock protein 27 mutation.
Not available
S-EPMC2679293 | biostudies-literature
UnknownNovel <i>ATP7A</i> Splice-Site Variant Causing Distal Motor Neuropathy and Occipital Horn Syndrome: Two Siblings and Literature Review.
Not available
S-EPMC12469850 | biostudies-literature
UnknownGenetic spectrum in a cohort of patients with distal hereditary motor neuropathy.
Not available
S-EPMC9082376 | biostudies-literature
UnknownExome sequencing identifies a REEP1 mutation involved in distal hereditary motor neuropathy type V.
Not available
S-EPMC3397265 | biostudies-literature
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