Cecila Marelli
University of Bonn
5 Papers
Cecila Marelli is an academic researcher from University of Bonn. The author has contributed to research in topics: Spinocerebellar ataxia & Internal medicine. The author has an hindex of 5, co-authored 5 publications.
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Papers
The natural history of spinocerebellar ataxia type 1, 2, 3, and 6: a 2-year follow-up study
Heike Jacobi,Peter Bauer,Paola Giunti,R. Labrum,M.G. Sweeney,P. Charles,A. Durr,Cecila Marelli,C. Globas,C. Linnemann,Ludger Schöls,Maria Rakowicz,Rafał Rola,E. Zdzienicka,T. Schmitz-Hübsch,R. Fancellu,Christian Mariotti,C. Tomasello,Laszlo Baliko,Béla Melegh,Alessandro Filla,Carlo Rinaldi,B.P.C. van de Warrenburg,C.C.P. Verstappen,S. Szymanski,José Berciano,J. Infante,Dagmar Timmann,S. Boesch,S. Hering,Chantal Depondt,Massimo Pandolfo,Jun-Suk Kang,S. Ratzka,Jörg B. Schulz,S. Tezenas du Montcel,Thomas Klockgether +36 more
TL;DR: Larger expanded repeats and earlier age at onset were associated with faster SARA progression in SCA1 and SCA2, and repeat length of the expanded allele had a similar effect on INAS progression.
Prediction of the age at onset in spinocerebellar ataxia type 1, 2, 3 and 6
Sophie Tezenas du Montcel,Alexandra Durr,Maria Rakowicz,Lorenzo Nanetti,Perrine Charles,Anna Sulek,Caterina Mariotti,Rafał Rola,Ludger Schöls,Peter Bauer,Isabelle Dufaure-Garé,Heike Jacobi,Sylvie Forlani,Sylvie Forlani,Tanja Schmitz-Hübsch,Alessandro Filla,Dagmar Timmann,Bart P.C. van de Warrenburg,Cecila Marelli,Jun Suk Kang,Paola Giunti,Arron Cook,Laszlo Baliko,Melegh Bela,Sylvia Boesch,Sandra Szymanski,José Berciano,Jon Infante,Katrin Buerk,Marcella Masciullo,Roberto Di Fabio,Chantal Depondt,Susanne Ratka,Giovanni Stevanin,Thomas Klockgether,Alexis Brice,Jean Louis Golmard +36 more
TL;DR: A regression model was fitted using a log-normal distribution for age at onset for each SCA genotype according to the CAG repeat size and current age, which can be valuable in clinical and research.
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Long-term evolution of patient-reported outcome measures in spinocerebellar ataxias.
Heike Jacobi,Heike Jacobi,Sophie Tezenas du Montcel,Peter Bauer,Paola Giunti,Arron Cook,Robyn Labrum,Michael H Parkinson,Alexandra Durr,Alexis Brice,Perrine Charles,Cecila Marelli,Caterina Mariotti,Lorenzo Nanetti,Lidia Sarro,Maria Rakowicz,Anna Sulek,Anna Sobanska,Tanja Schmitz-Hübsch,Ludger Schöls,Holger Hengel,Laszlo Baliko,Béla Melegh,Alessandro Filla,Antonella Antenora,Jon Infante,José Berciano,Bart P.C. van de Warrenburg,Dagmar Timmann,Sandra Szymanski,Sylvia Boesch,Wolfgang Nachbauer,Jun Suk Kang,Massimo Pandolfo,Jörg B. Schulz,Audrey Tanguy Melac,Alhassane Diallo,Thomas Klockgether,Thomas Klockgether +38 more
TL;DR: In the common SCAs, PROMs give complementary information to the information provided by neurological scales and underlines the importance of PRoms as additional outcome measures in future interventional trials.
Body Mass Index Decline Is Related to Spinocerebellar Ataxia Disease Progression
Alhassane Diallo,Heike Jacobi,Tanja Schmitz-Hübsch,Arron Cook,Robyn Labrum,Alexandra Durr,Alexandra Durr,Alexis Brice,Alexis Brice,Perrine Charles,Cecila Marelli,Caterina Mariotti,Lorenzo Nanetti,Marta Panzeri,Maria Rakowicz,Anna Sobanska,Anna Sulek,Ludger Schöls,Holger Hengel,Béla Melegh,Alessandro Filla,Antonella Antenora,Jon Infante,José Berciano,Bart P.C. van de Warrenburg,Dagmar Timmann,Sylvia Boesch,Massimo Pandolfo,Jörg B. Schulz,Peter Bauer,Paola Giunti,Laszlo Baliko,Michael H Parkinson,Jun Suk Kang,Thomas Klockgether,Sophie Tezenas du Montcel +35 more
TL;DR: Spinocerebellar ataxias (SCAs) are dominantly inherited, progressive ataxia disorders that could be preceded by weight loss.
Prediction of Survival With Long-Term Disease Progression in Most Common Spinocerebellar Ataxia.
Alhassane Diallo,Heike Jacobi,Arron Cook,Paola Giunti,Michael H Parkinson,Robyn Labrum,Alexandra Durr,Alexis Brice,Perrine Charles,Cecila Marelli,Caterina Mariotti,Lorenzo Nanetti,Marta Panzeri,Anna Castaldo,Maria Rakowicz,Rafał Rola,Anna Sulek,Tanja Schmitz-Hübsch,Tanja Schmitz-Hübsch,Ludger Schöls,Ludger Schöls,Holger Hengel,Holger Hengel,Laszlo Baliko,Béla Melegh,Alessandro Filla,Antonella Antenora,Jon Infante,José Berciano,Bart P.C. van de Warrenburg,Dagmar Timmann,Sylvia Boesch,Wolfgang Nachbauer,Massimo Pandolfo,Jörg B. Schulz,Peter Bauer,Kang Jun-Suk,Thomas Klockgether,Thomas Klockgether,Sophie Tezenas du Montcel +39 more
TL;DR: Spinocerebellar ataxias are rare dominantly inherited neurodegenerative diseases that lead to severe disability and premature death.