All papers authored by Alexandra Durr
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2022
Sacha Weber 
,
Giulia Coarelli ,
Anna Heinzmann ,
Marie-Lorraine Monin ,
Nicolas Richard ,
Marion Gerard ,
Alexandra Durr ,
Vincent Huin
,
Giulia Coarelli ,
Anna Heinzmann ,
Marie-Lorraine Monin ,
Nicolas Richard ,
Marion Gerard ,
Alexandra Durr ,
Vincent Huin
TwoRFC1splicing variants in CANVAS
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Livia Parodi ,
Mathieu Barbier,
Maxime Jacoupy,
Claire Pujol ,
François-Xavier Lejeune,
Pauline Lallemant-Dudek,
Typhaine Esteves,
Maartje Pennings,
Erik-Jan Kamsteeg,
Marine Guillaud-Bataille,
Guillaume Banneau,
Giulia Coarelli,
Badreddine Mohand Oumoussa,
Matthew J. Fraidakis,
Giovanni Stevanin
and 4 other authors
,
Mathieu Barbier,
Maxime Jacoupy,
Claire Pujol ,
François-Xavier Lejeune,
Pauline Lallemant-Dudek,
Typhaine Esteves,
Maartje Pennings,
Erik-Jan Kamsteeg,
Marine Guillaud-Bataille,
Guillaume Banneau,
Giulia Coarelli,
Badreddine Mohand Oumoussa,
Matthew J. Fraidakis,
Giovanni Stevanin
and 4 other authors
The mitochondrial seryl-tRNA synthetase SARS2 modifies onset in spastic paraplegia type 4
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Mathieu Barbier ,
Melanie Bahlo ,
Alessandra Pennisi ,
Maxime Jacoupy ,
Rick M. Tankard ,
Claire Ewenczyk,
Kayli C. Davies,
Patricia Lino‐Coulon ,
Claire Colace ,
Haloom Rafehi ,
Nicolas Auger,
Brendan R. E. Ansell ,
Ivo van der Stelt,
Katherine B. Howell ,
Marie Coutelier
and 15 other authors
,
Melanie Bahlo ,
Alessandra Pennisi ,
Maxime Jacoupy ,
Rick M. Tankard ,
Claire Ewenczyk,
Kayli C. Davies,
Patricia Lino‐Coulon ,
Claire Colace ,
Haloom Rafehi ,
Nicolas Auger,
Brendan R. E. Ansell ,
Ivo van der Stelt,
Katherine B. Howell ,
Marie Coutelier
and 15 other authors
Heterozygous PNPT1 Variants Cause Spinocerebellar Ataxia Type 25
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Wasifur Rahman ,
Masum Hasan ,
Md Saiful Islam ,
Titilayo Olubajo ,
Jeet Thaker ,
Abdel-Rahman Abdelkader ,
Phillip Yang ,
Henry Paulson ,
Gulin Oz ,
Alexandra Durr ,
Thomas Klockgether ,
Tetsuo Ashizawa ,
Readisca Investigators,
Ehsan Hoque
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,
Masum Hasan ,
Md Saiful Islam ,
Titilayo Olubajo ,
Jeet Thaker ,
Abdel-Rahman Abdelkader ,
Phillip Yang ,
Henry Paulson ,
Gulin Oz ,
Alexandra Durr ,
Thomas Klockgether ,
Tetsuo Ashizawa ,
Readisca Investigators,
Ehsan Hoque
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2021
Thomas Roux ,
Mathieu Barbier,
Mélanie Papin,
Claire-Sophie Davoine,
Sabrina Sayah,
Giulia Coarelli,
Perrine Charles,
Cecilia Marelli,
Livia Parodi,
Christine Tranchant,
Cyril Goizet,
Stephan Klebe,
Ebba Lohmann,
Lionel Van Maldergem,
Christine van Broeckhoven
and 80 other authors
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,
Mathieu Barbier,
Mélanie Papin,
Claire-Sophie Davoine,
Sabrina Sayah,
Giulia Coarelli,
Perrine Charles,
Cecilia Marelli,
Livia Parodi,
Christine Tranchant,
Cyril Goizet,
Stephan Klebe,
Ebba Lohmann,
Lionel Van Maldergem,
Christine van Broeckhoven
and 80 other authors
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Claire Pujol ,
Anne Legrand ,
Livia Parodi ,
Priscilla Thomas ,
Fanny Mochel ,
Dario Saracino ,
Giulia Coarelli ,
Marijana Croon ,
Milica Popovic ,
Manon Valet ,
Nicolas Villain ,
Shahira Elshafie ,
Mahmoud Issa ,
Stephane Zuily ,
Mathilde Renaud
and 33 other authors
,
Anne Legrand ,
Livia Parodi ,
Priscilla Thomas ,
Fanny Mochel ,
Dario Saracino ,
Giulia Coarelli ,
Marijana Croon ,
Milica Popovic ,
Manon Valet ,
Nicolas Villain ,
Shahira Elshafie ,
Mahmoud Issa ,
Stephane Zuily ,
Mathilde Renaud
and 33 other authors
Implication of folate deficiency in CYP2U1 loss of function
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2020
Kathrin Gonsior,
Gabriele Anna Kaucher,
Patrik Pelz,
Dorothea Schumann,
Melanie Gansel,
Sandra Kuhs,
Thomas Klockgether,
Sylvie Forlani,
Alexandra Durr ,
Stefan Hauser,
Tim W. Rattay ,
Matthis Synofzik ,
Holger Hengel ,
Ludger Schöls,
Olaf H. Rieß
and 1 other authors
Download from link.springer.com
,
Stefan Hauser,
Tim W. Rattay ,
Matthis Synofzik ,
Holger Hengel ,
Ludger Schöls,
Olaf H. Rieß
and 1 other authors
Download from link.springer.com
Maissa G. Bah ,
Diana Rodriguez ,
Cécile Cazeneuve,
Fanny Mochel ,
David Devos ,
Agnese Suppiej ,
Agathe Roubertie ,
Isabelle Meunier ,
Cyril Gitiaux ,
Aurore Curie ,
Frédéric Klapczynski,
Nouha Allani‐Essid,
Maryline Carneiro,
Rick Van Minkelen,
Anneke Kievit
and 19 other authors
,
Diana Rodriguez ,
Cécile Cazeneuve,
Fanny Mochel ,
David Devos ,
Agnese Suppiej ,
Agathe Roubertie ,
Isabelle Meunier ,
Cyril Gitiaux ,
Aurore Curie ,
Frédéric Klapczynski,
Nouha Allani‐Essid,
Maryline Carneiro,
Rick Van Minkelen,
Anneke Kievit
and 19 other authors
Deciphering the natural history of SCA7 in children
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