Publications by authors named "Anna Heinzmann"

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Sequence Variants in Small CAG Repeat Expansions of the Gene and Disease Onset and Progression in Huntington Disease.
Anna Heinzmann, Emilien Petit, Jessica Dawson, Chris Kay, Claire-Sophie Davoine

Neurology· January 2026

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Spastic Ataxia Composite (SPAXCOM): A Scale to Evaluate the Progression of Subjects with Spasticity and Ataxia.
Cécile Di Folco, Charlotte Dubec-Fleury, Andreas Traschütz, Christoph Kessler, Selina Reich, Anna Heinzmann

Mov Disord· November 2025

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The Two Faces of Pediatric SCA2.
Nicolas Rive Le Gouard, Maissa G Bah, Giulia Coarelli, Anna Heinzmann, Anne-Laure Fauret

Eur J Neurol· August 2025

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Neuropathy in GAA-FGF14 Late-Onset Cerebellar Ataxia (SCA27B): Prevalence and Characteristics.
Julian Theuriet, Lukas Paulet, Blandine Acket, Fabienne Ory-Magne, Hocine Belbachir, Anna Heinzmann

Eur J Neurol· July 2025

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Hereditary spastic paraplegias: When to expect bladder dysfunction a genetic and urodynamic study.
Pauline Lallemant-Dudek, Marine Guillaud-Bataille, Claire Hentzen, Charles Joussain, Bertrand Pichon, Anna Heinzmann

Eur J Neurol· January 2025

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SARA captures disparate progression and responsiveness in spinocerebellar ataxias.
Emilien Petit, Tanja Schmitz-Hübsch, Giulia Coarelli, Heike Jacobi, Anna Heinzmann

J Neurol· July 2024

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CAG repeat mosaicism is gene specific in spinocerebellar ataxias.
Radhia Kacher, François-Xavier Lejeune, Isabelle David, Susana Boluda, Giulia Coarelli, Anna Heinzmann

Am J Hum Genet· May 2024

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Clinical and genetic keys to cerebellar ataxia due to FGF14 GAA expansions.
Jean-Loup Méreaux, Claire-Sophie Davoine, David Pellerin, Giulia Coarelli, Marie Coutelier, Anna Heinzmann

EBioMedicine· January 2024

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End-of-Life Discussions With Patients and Caregivers Affected By Neurogenetic Diseases.
Anne-Claire Dorsemans, Giulia Coarelli, Anna Heinzmann, Benoit Verdon, Manuella De Luca

Neurol Clin Pract· December 2023

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Individual perception of environmental factors that influence lower limbs spasticity in inherited spastic paraparesis.
Pauline Lallemant-Dudek, Livia Parodi, Giulia Coarelli, Anna Heinzmann, Perrine Charles

Ann Phys Rehabil Med· September 2023

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Fast and reliable detection of repeat expansions in spinocerebellar ataxia using exomes.
Jean-Loup Méreaux, Claire-Sophie Davoine, Marie Coutelier, Léna Guillot-Noël, Anna Castrioto, Anna Heinzmann

J Med Genet· July 2023

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Huntington's Disease with Small CAG Repeat Expansions.
Anna Heinzmann, Sabrina Sayah, François-Xavier Lejeune, Valérie Hahn, Marc Teichmann

Mov Disord· July 2023

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Extreme phenotypic heterogeneity in non-expansion spinocerebellar ataxias.
Paulina Cunha, Emilien Petit, Marie Coutelier, Giulia Coarelli, Caterina Mariotti, Anna Heinzmann

Am J Hum Genet· July 2023

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Reproductive choices and intrafamilial communication in neurogenetic diseases with different self-estimated severities.
Lucie Pierron, Sophie Tezenas du Montcel, Anna Heinzmann, Giulia Coarelli, Delphine Héron

J Med Genet· April 2023

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Two RFC1 splicing variants in CANVAS.
Sacha Weber, Giulia Coarelli, Anna Heinzmann, Marie-Lorraine Monin, Nicolas Richard

Brain· March 2023

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Intermediate repeat expansions of TBP and STUB1: Genetic modifier or pure digenic inheritance in spinocerebellar ataxias?
Mathieu Barbier, Claire-Sophie Davoine, Emilien Petit, Maximilien Porché, Léna Guillot-Noel, Anna Heinzmann

Genet Med· February 2023

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Silver-fluoropolymer (Ag-CF) films: Kinetic study of silver release, and spectroscopic-microscopic insight into the inhibition of P. fluorescens biofilm formation.
Giada Caniglia, Maria Chiara Sportelli, Anna Heinzmann, Rosaria A Picca, Antonio Valentini

Anal Chim Acta· June 2022

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Safety and efficacy of riluzole in spinocerebellar ataxia type 2 in France (ATRIL): a multicentre, randomised, double-blind, placebo-controlled trial.
Giulia Coarelli, Anna Heinzmann, Claire Ewenczyk, Clara Fischer, Marie Chupin

Lancet Neurol· March 2022

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Characterizing cardiac phenotype in Friedreich's ataxia: The CARFA study.
Lise Legrand, Jonathan W Weinsaft, Francoise Pousset, Claire Ewenczyk, Perrine Charles, Anna Heinzmann

Arch Cardiovasc Dis· January 2022

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Questioning the causality of HTT CAG-repeat expansions in FTD/ALS.
Quentin Thomas, Giulia Coarelli, Anna Heinzmann, Isabelle Le Ber, Maria Del Mar Amador

Neuron· June 2021

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The ARCA Registry: A Collaborative Global Platform for Advancing Trial Readiness in Autosomal Recessive Cerebellar Ataxias.
Andreas Traschütz, Selina Reich, Astrid D Adarmes, Mathieu Anheim, Mahmoud Reza Ashrafi, Anna Heinzmann

Front Neurol· June 2021

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Informing about genetic risk in families with Huntington disease: comparison of attitudes across two decades.
Lucie Pierron, Juliette Hennessy, Sophie Tezenas du Montcel, Giulia Coarelli, Anna Heinzmann

Eur J Hum Genet· April 2021

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Expanding the Spectrum of AP5Z1-Related Hereditary Spastic Paraplegia (HSP-SPG48): A Multicenter Study on a Rare Disease.
Marianthi Breza, Jennifer Hirst, Viorica Chelban, Guillaume Banneau, Laurène Tissier, Anna Heinzmann

Mov Disord· April 2021

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Clinico-Genetic, Imaging and Molecular Delineation of COQ8A-Ataxia: A Multicenter Study of 59 Patients.
Andreas Traschütz, Tommaso Schirinzi, Lucia Laugwitz, Nathan H Murray, Craig A Bingman, Anna Heinzmann

Ann Neurol· August 2020

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Hypothermia and neuroprotection by sulfide after cardiac arrest and cardiopulmonary resuscitation.
Jürgen Knapp, Anna Heinzmann, Andreas Schneider, Stephan A Padosch, Bernd W Böttiger

Resuscitation· August 2011

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