Alexandra Durr

Professor, MD, PhD,

Sorbonne Université

France

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About

Professor Alexandra Durr is a faculty member at Sorbonne Université in France. She holds both an MD and a PhD, specializing in neurogenetics and the study of developmental disorders. Her recent research focuses on various genetic conditions, including Huntington's disease, ataxia, and associations with developmental delays and autism spectrum disorders.

Articles (13)

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2025

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2025

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2023

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2023

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2023

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2023

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2022

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2022

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2021

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2021

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2021

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2021

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2021

Collaborators (17)

Antonio Amorim

Prof.

University of Porto

PORTUGAL

Alexandra Durr

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Articles (13)

A founder variant in TBCB is associated with global developmental delay, autism spectrum, and spastic paraparesis

Expanding the clinical spectrum of RAB3A: from cerebellar ataxia to spastic paraplegia

Genetic topography and cortical cell loss in Huntington’s disease link development and neurodegeneration

Progressive alterations in white matter microstructure across the timecourse of Huntington's disease

Two RFC1 splicing variants in CANVAS

Machado-Joseph disease in a Sudanese family links East Africa to Portuguese families and allows reestimation of ancestral age of the Machado lineage

Levels of Neurofilament Light at the Preataxic and Ataxic Stages of Spinocerebellar Ataxia Type 1

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PolyQ-expanded ataxin-3 protein levels in peripheral blood mononuclear cells correlate with clinical parameters in SCA3: a pilot study

Correction: Clinical, neuropathological, and genetic characterization of STUB1 variants in cerebellar ataxias: a frequent cause of predominant cognitive impairment

Propensity for somatic expansion increases over the course of life in Huntington disease

Informing about genetic risk in families with Huntington disease: comparison of attitudes across two decades

Response to Park et al.

Collaborators (17)

Antonio Amorim

Vincent Huin

Zhongbo Chen

Marcela Gargiulo

Tim W. Rattay

Manuela Basso

Cyril Goizet

Andre Altmann

Sandrine Humbert

Giovanni Stevanin

Douglas Langbehn

Ashraf Yahia

Giorgio CASARI

Radhia Kacher

Gulin Oz

Frederic Darios

Henry Paulson

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