odile boespflug-tanguy

Professor

Université Paris Diderot

France

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Odile Boespflug-Tanguy is a Professor at Université Paris Diderot in France. Her research focuses on spinal muscular atrophy, intellectual disabilities, and neuroanatomical features linked to fetal alcohol spectrum disorders. Recent publications include studies on therapeutic decisions for children with SMA, genetic mutations associated with intellectual disabilities, and the efficacy of risdiplam treatment in various SMA types.

Articles (10)

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2023

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2022

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2022

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2022

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2022

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2022

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2022

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2022

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2022

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2022

Collaborators (10)

Guy Letellier

Head of the Department of Paediatric Rehabilitation

Rehabilitation Centre, ESEAN-APF

FRANCE

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Jerome Govin

Head of Department

Institute for Advanced Biosciences

FRANCE

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Eugenio Mercuri

Professor of Pediatric Neurology

Università Cattolica del Sacro Cuore

ITALY

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Santosh Mordekar

Consultant Paediatric Neurologist / Honorary Senior Lecturer

UNITED KINGDOM

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Imen DORBOZ

FRANCE

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Nina-Maria Wilpert

Charité - Universitätsmedizin Berlin

GERMANY

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Hyunwoo Bae

Assisstant professor

Kyungpook National University

SOUTH KOREA

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Lucie Hertz-Pannier

Head, inDEV team

INSERM

FRANCE

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charbel massaad

Professor/Dean

Université Paris Descartes

FRANCE

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Davide Tonduti

Assistant Professor

Università degli Studi di Torino

ITALY

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odile boespflug-tanguy

Research Interests

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Articles (10)

Risdiplam in types 2 and 3 spinal muscular atrophy: A randomised, placebo‐controlled, dose‐finding trial followed by 24 months of treatment

Movement disorders in MCT8 deficiency/Allan-Herndon-Dudley Syndrome

Mutation of Proteolipid Protein 1 Gene: From Severe Hypomyelinating Leukodystrophy to Inherited Spastic Paraplegia.

Parents' dilemma: A therapeutic decision for children with spinal muscular atrophy (SMA) type 1.

A novel homozygous mutation in TRAPPC9 gene causing autosomal recessive non-syndromic intellectual disability.

Safety and efficacy of risdiplam in patients with type 1 spinal muscular atrophy (FIREFISH part 2): secondary analyses from an open-label trial.

Combining neuroanatomical features to support diagnosis of fetal alcohol spectrum disorders.

Bi-allelic loss-of-function variants in TMEM147 cause moderate to profound intellectual disability with facial dysmorphism and pseudo-Pelger-Huët anomaly.

Case Report: A New Family With Pontocerebellar Hypoplasia 10 From Sudan.

Safety and efficacy of once-daily risdiplam in type 2 and non-ambulant type 3 spinal muscular atrophy (SUNFISH part 2): a phase 3, double-blind, randomised, placebo-controlled trial.

Collaborators (10)

Guy Letellier

Jerome Govin

Eugenio Mercuri

Santosh Mordekar

Imen DORBOZ

Nina-Maria Wilpert

Hyunwoo Bae

Lucie Hertz-Pannier

charbel massaad

Davide Tonduti

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