Case definition and classification of leukodystrophies and leukoencephalopathies

…, J Schmidt, NI Wolf, O Boespflug-Tanguy… - Molecular genetics and …, 2015 - Elsevier
Objective An approved definition of the term leukodystrophy does not currently exist. The lack
of a precise case definition hampers efforts to study the epidemiology and the relevance of …

The large spectrum of eIF2B-related diseases

A Fogli, O Boespflug-Tanguy - Biochemical Society Transactions, 2006 - portlandpress.com
eIF2B (eukaryotic initiation factor 2B) is a GEF (guanine nucleotide-exchange factor) that
plays, with its substrate eIF2, a key regulatory role in the translation initiation phase of protein …

Mutations in GFAP, encoding glial fibrillary acidic protein, are associated with Alexander disease

M Brenner, AB Johnson, O Boespflug-Tanguy… - Nature …, 2001 - nature.com
Alexander disease is a rare disorder of the central nervous system of unknown etiology 1, 2.
Infants with Alexander disease develop a leukoencephalopathy with macrocephaly, …

Hemiconvulsion–hemiplegia–epilepsy syndrome: current understandings

…, P Gressens, O Boespflug-Tanguy - european journal of …, 2012 - Elsevier
Hemiconvulsion–Hemiplegia (HH) syndrome is an uncommon consequence of prolonged
focal febrile convulsive seizures in infancy and early childhood. It is characterized by the …

Onasemnogene abeparvovec gene therapy for symptomatic infantile-onset spinal muscular atrophy type 1 (STR1VE-EU): an open-label, single-arm, multicentre …

…, G Baranello, R Masson, O Boespflug-Tanguy… - The Lancet …, 2021 - thelancet.com
Background Spinal muscular atrophy is a rare, autosomal recessive, neuromuscular disease
caused by biallelic loss of the survival motor neuron 1 (SMN1) gene, resulting in motor …

X–linked spastic paraplegia and Pelizaeus–Merzbacher disease are allelic disorders at the proteolipid protein locus

…, JM Rozet, M Le Merrer, R Gil, O Boespflug-Tanguy - Nature …, 1994 - nature.com
Three forms of X–linked spastic paraplegia (SPG) have been defined. One locus (SPG 1)
maps to Xq28 while two clinically distinct forms map to Xq22 (SPG2). A rare X–linked …

[PDF][PDF] Mutations of POLR3A encoding a catalytic subunit of RNA polymerase Pol III cause a recessive hypomyelinating leukodystrophy

…, G Carosso, I Clément, O Boespflug-Tanguy… - The American Journal of …, 2011 - cell.com
Leukodystrophies are a heterogeneous group of inherited neurodegenerative disorders
characterized by abnormal white matter visible by brain imaging. It is estimated that at least 30% …

[PDF][PDF] Infantile-onset ascending hereditary spastic paralysis is associated with mutations in the alsin gene

…, M di Capua, E Bertini, O Boespflug-Tanguy - The American Journal of …, 2002 - cell.com
We studied 15 patients, from 10 families, who presented with severe spastic paralysis with
an infantile onset and an ascending progression. Spastic paraplegia began during the first 2 …

[PDF][PDF] Ovarian failure related to eukaryotic initiation factor 2B mutations

…, R Schiffmann, O Boespflug-Tanguy - The American Journal of …, 2003 - cell.com
Ovarian failure (OF) at age <40 years occurs in ∼1% of all women. Other than karyotype
abnormalities, very few genes are known to be associated with this ovarian dysfunction. We …

Molecular findings and clinical data in a cohort of 150 patients with anophthalmia/microphthalmia

…, O BoespflugTanguy, O Boute‐Benejean… - Clinical …, 2014 - Wiley Online Library
Anophthalmia and microphthalmia ( AM ) are the most severe malformations of the eye,
corresponding respectively to reduced size or absent ocular globe. Wide genetic heterogeneity …