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Adrian Degardin

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Journal of Neurology|June 28, 2020

High diagnostic value of plasma Niemann-Pick type C biomarkers in adults with selected neurological and/or psychiatric disordersDaniele Mandia, Marion Plaze, Isabelle Le Ber, et al.

Human Mutation|August 17, 2016

Mini-Exome Coupled to Read-Depth Based Copy Number Variation Analysis in Patients with Inherited AtaxiasCecilia Marelli, Claire Guissart, Cecile Hubsch, et al.

European Journal of Neurology|June 28, 2025

Neuropathy in GAA-FGF14 Late-Onset Cerebellar Ataxia (SCA27B): Prevalence and CharacteristicsJulian Theuriet, Lukas Paulet, Blandine Acket, et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 8, 2021

High rate of hypomorphic variants as the cause of inherited ataxia and related diseases: study of a cohort of 366 familiesMehdi Benkirane, Cecilia Marelli, Claire Guissart, et al.

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Search research articles

Showing results (11-20 of 14) with videos related to

Sort By:

Pageof 2

You have reached the last page of results.This site can display upto 14 results.

Journal of Neurology|June 28, 2020

High diagnostic value of plasma Niemann-Pick type C biomarkers in adults with selected neurological and/or psychiatric disordersDaniele Mandia, Marion Plaze, Isabelle Le Ber, et al.

Human Mutation|August 17, 2016

Mini-Exome Coupled to Read-Depth Based Copy Number Variation Analysis in Patients with Inherited AtaxiasCecilia Marelli, Claire Guissart, Cecile Hubsch, et al.

European Journal of Neurology|June 28, 2025

Neuropathy in GAA-FGF14 Late-Onset Cerebellar Ataxia (SCA27B): Prevalence and CharacteristicsJulian Theuriet, Lukas Paulet, Blandine Acket, et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 8, 2021

High rate of hypomorphic variants as the cause of inherited ataxia and related diseases: study of a cohort of 366 familiesMehdi Benkirane, Cecilia Marelli, Claire Guissart, et al.

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