CSF biomarker variability in the Alzheimer's Association quality control program

Niklas Mattsson, Ulf Andréasson, Staffan Persson, +142

Alzheimer s & Dementia

Ovarian Failure Related to Eukaryotic Initiation Factor 2B Mutations

Anne Fogli, Diana Rodriguez, Éléonore Eymard-Pierre, +7

The American Journal of Human Genetics

Genome InstabilityOogenesisGenetic DisorderGeneticsGynecology +4

The effect of genotype on the natural history of eIF2B-related leukodystrophies

Anne Fogli, Raphael Schiffmann, Enrico Bertini, +12

Neurology

Cree leukoencephalopathy and CACH/VWM disease are allelic at the <i>EIF2B5</i> locus

Anne Fogli, Kondi Wong, Éléonore Eymard-Pierre, +6

Annals of Neurology

Neurological DisorderDisease EtiologyGeneticsPathologySocial Sciences +17

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

Pierre Labauge, Lætitia Horzinski, Xavier Ayrignac, +12

Brain

The large spectrum of eIF2B-related diseases

Anne Fogli, Odile Boespflug‐Tanguy

Biochemical Society Transactions

Large SpectrumBrain DevelopmentNeurological DisorderDisease EtiologyWhite Matter +20

Decreased guanine nucleotide exchange factor activity in eIF2B-mutated patients

Anne Fogli, Raphael Schiffmann, Lynne Hugendubler, +5

European Journal of Human Genetics

Exchange Factor ActivityGenetic FactorCancer GeneticsMedicineCell Biology

A severe variant of childhood ataxia with central hypomyelination/vanishing white matter leukoencephalopathy related to <i>EIF21B5</i> mutation

Anne Fogli, Carlo Dionisi‐Vici, Federica Deodato, +3

Neurology

Screening for known mutations in EIF2Bgenes in a large panel of patients with premature ovarian failure

Anne Fogli, Fernande Gauthier‐Barichard, Raphael Schiffmann, +4

BMC Women s Health

Clinical reporting following the quantification of cerebrospinal fluid biomarkers in Alzheimer's disease: An international overview

Constance Delaby, Charlotte E. Teunissen, Kaj Blennow, +69

Alzheimer s & Dementia