A Case Report of Gordon Holmes Syndrome Due to PNPLA6 Mutation (P1-5.018)

Gordon Holmes first described an autosomal recessive disorder with characteristic coexisting clinical features of progressive ataxia and hypogonadotropic hypogonadism.

Authors

Institutions

Publication Details

Journal
Neurology
Published
2025-04-07
DOI
https://doi.org/10.1212/wnl.0000000000212436
Primary Topic
Lymphoma Diagnosis and Treatment
Type
article
Field-Weighted Citation Impact
0.00
Controls
|||
ALL TIME
JAN
FEB
MAR
APR
MAY
JUN
JUL
AUG
SEP
OCT
article

A Case Report of Gordon Holmes Syndrome Due to PNPLA6 Mutation (P1-5.018)

Jera Kruja, Altin Kuqo, Eti Muharremi
Neurology
Lymphoma Diagnosis and Treatment
article

A Case Report of Gordon Holmes Syndrome Due to PNPLA6 Mutation (P1-5.018)

Jera Kruja, Altin Kuqo, Eti Muharremi
article en

Abstract

Gordon Holmes first described an autosomal recessive disorder with characteristic coexisting clinical features of progressive ataxia and hypogonadotropic hypogonadism.

NeurologyVol. 104(7_Supplement_1)
Mother Teresa Hospital (AL), Cooper University Hospital (US)
Openalex Percentile: Top 90%
Lymphoma Diagnosis and Treatment
DOISourceOpenAlex
AI Navigator

Ask Laika to Summarize, Analyze, and Connect papers live on the map.

Summarize Papers & Methodologies

Extract key findings, datasets, and comparative methods across publications.

Benchmark Rankings & Visual Analytics

Rank top research institutions, authors, funders, topics, and journals by Field-Weighted Citation Impact (FWCI) and paper volume with instant charts.

Connect Distant Disciplines

Bridge topological clusters on the map to find hidden collaborative intersections.

A Case Report of Gordon Holmes Syndrome Due to PNPLA6 Mutation (P1-5.018) — Jera Kruja, Altin Kuqo, et al. · Neurology (2025) | TGRS Research Map | TGRS