Concepedia

Lætitia Horzinski

LH

Statistics

Publications

3

Citations

159

H-Index

3

Active since

2008

Affiliations

Assistance Publique – Hôpitaux de Paris(Current)

Sorbonne Université

Inserm

Hôpital Armand-Trousseau

Centre Hospitalier Universitaire de Clermont-Ferrand

Lætitia Horzinski is an author at Assistance Publique – Hôpitaux de Paris specializing in genetic disorders, medical genetics, and genetics.

Publications per year

2008–2009

3

Publications

3

Natural history of adult-onset eIF2B-related disorders: a multi-centric survey of 16 cases

Pierre Labauge, Lætitia Horzinski, Xavier Ayrignac et al. · Brain · 2009 · 126 citations · Full text

, , +17

Sensitivity and specificity of decreased CSF asialotransferrin for eIF2B-related disorder

Adeline Vanderver, Yetrib Hathout, Jelena Maletkovic et al. · Neurology · 2008 · 23 citations

, , +12

Exon Deletion in the Non‐catalytic Domain of eIF2Bɛ Due to a Splice Site Mutation Leads to Infantile Forms of CACH/VWM with Severe Decrease of eIF2B GEF Activity

Lætitia Horzinski, Diana Rodriguez, Constanze R Scherer et al. · Annals of Human Genetics · 2008 · 10 citations

, , +12

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