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researcher

L. Buée

4 papers hereh-index 7823.9k citations359 works total

Matching runs newest-first, so older work may not be attached to this profile yet.

author position
  • middle author4

Across the 4 of 4 papers where every author was matched, so the position is known.

fields
  • q-bio.GN2
  • q-bio.BM1
  • q-bio.QM1

identity via Semantic Scholar / OpenAlex

most citedTMEM240 mutations cause spinocerebellar ataxia 21 with mental retardation and severe cognitive impairment

71 citations · 126 across the 4 of their papers we have counts for

collaborators
Showing q-bio.BMShow all

1 paper · 1 filter

q-bio.BM2020★ 8 cited

The TMEM240 Protein, Mutated in SCA21, Is Expressed in Purkinje Cells and Synaptic Terminals

Sabiha Eddarkaoui, Mégane Homa, Anne Loyens +6

A variety of missense mutations and a stop mutation in the gene coding for transmembrane protein 240 (TMEM240) have been reported to be the causative mutations of spinocerebellar a…

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Not affiliated with arXiv. Researcher data from Semantic Scholar (ODC-BY) and OpenAlex.