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G

Giulia Coarelli

Fondazione IRCCS Istituto Neurologico Carlo Besta
H指数:28
被引数:2,920

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ATXN8OS Intermediate Expansion Acts as a Genetic Modifier in Spinocerebellar Ataxia Type 48 (SCA48/STUB1)

ATXN8OS 中间扩张在脊髓小脑共济失调48型（SCA48/<i>STUB1</i>）中作为遗传修饰因子发挥作用

Movement Disorders
IF7.6
2026-09-220
OAAI
Charlotte Mouraux MD; Jean-Loup Méreaux MD, PhD; Claire-Sophie Davoine BS; Léna Guillot Noel BS; Emilien Petit MSc; Quentin Thomas MD, PhD; Adem Nasraoui MSc; Anna Heinzmann MD; Claire Ewenczyk MD, PhD; Alexis Brice MD, PhD; Alexandra Durr MD, PhD; Giulia Coarelli MD, PhD
Predictive models for ataxia progression and conversion in spinocerebellar ataxia type 1 and 3

预测脊髓小脑共济失调1型和3型中进展和转化的模型

Brain
IF11.7
2025-10-280
PRE
Emilien Petit; Giulia Coarelli; David Morgan; Paulina Cunha; Hortense Hurmic; Jennifer Faber; Marcus Grobe-Einsler; Thiago Rezende; Sheng-Han Kuo; George R Wilmot; Liana S Rosenthal; Jeremy D Schmahmann; Talene A Yacoubian; Susan L Perlman; Michael D Geschwind; Christopher M Gomez; Trevor Hawkins; S H Subramony; Vikram G Shakkottai; Khalaf O Bushara; Theresa A Zesiewicz; Stefan M Pulst; Young Woo Park; Christophe Lenglet; Thomas Klockgether; Henry L Paulson; Alexandra Durr; Gülin Öz; Tetsuo Ashizawa; Sophie Tezenas du Montcel
Best Oculomotor Endpoints for Clinical Trials in Hereditary Ataxias: A Systematic Review and Consensus by the Ataxia Global Initiative Working Group on Digital‑Motor Biomarkers

遗传性共济失调临床试验的最佳眼动终点：数字运动生物标志物共济失调全球倡议工作组系统综述与共识

cerebellum
IF0
2025-08-130
OAAI
Elena Pretegiani; Pilar Garces; Chrystalina A. Antoniades; Anna Sobanska; Norbert Kovacs; Sarah H. Ying; Anoopum S. Gupta; Susan Perlman; David J. Szmulewicz; Chiara Pane; Andrea H. Németh; Laura B. Jardim; Giulia Coarelli; Michaela Kuzmiak; Andona Milovanovic; Andreas Traschütz; Alexander A. Tarnutzer
Integrated Modeling of Digital-Motor and Clinician-Reported Outcomes Using Item Response Theory: Towards Powerful Trials for Rare Neurological Diseases

基于项目反应理论的数字-运动与临床报告结局的整合建模：面向罕见神经疾病的强力试验

cpt pharmacometrics systems pharmacology
IF0
2025-07-210
OAAI
Alzahra Hamdan; Andreas Traschütz; Lukas Beichert; Xiaomei Chen; Cynthia Gagnon; Bart P. van de Warrenburg; Filippo M. Santorelli; Nazlı Başak; Giulia Coarelli; Rita Horvath; Stephan Klebe; PROSPAX consortium; EVIDENCE-RND consortium; Rebecca Schüle; Andrew C. Hooker; Matthis Synofzik; Mats O. Karlsson
Longitudinal Changes of Clinical, Imaging, and Fluid Biomarkers in Preataxic and Early Ataxic Spinocerebellar Ataxia Type 2 and 7 Carriers
NEUROLOGY
IF8.5
2024-09-100
OAAI
Coarelli, Giulia; Dubec-Fleury, Charlotte; Petit, Emilien; Sayah, Sabrina; Fischer, Clara; Nassisi, Marco; Gatignol, Peggy; Dorgham, Karim; Daghsen, Lina; Daye, Pierre; Cunha, Paulina; Kacher, Radhia; Hilab, Rania; Hurmic, Hortense; Lamaziere, Antonin; Lamy, Jean-Charles; Welter, Marie-Laure; Chupin, Marie; Mangin, Jean-Francois; Lane, Roger; Gaymard, Bertrand; Pouget, Pierre; Audo, Isabelle; Brice, Alexis; Tezenas du Montcel, Sophie; Durr, Alexandra
CAG repeat mosaicism is gene specific in spinocerebellar ataxias

CAG重复嵌合体在脊髓小脑性共济失调中具有基因特异性

AMERICAN JOURNAL OF HUMAN GENETICS
IF8.1
2024-05-017
OAAI
Kacher, Radhia; Lejeune, Francois-Xavier; David, Isabelle; Boluda, Susana; Coarelli, Giulia; Leclere-Turbant, Sabrina; Heinzmann, Anna; Marelli, Cecilia; Charles, Perrine; Goizet, Cyril; Kabir, Nisha; Hilab, Rania; Jornea, Ludmila; Six, Julie; Dommergues, Marc; Fauret, Anne-Laure; Brice, Alexis; Humbert, Sandrine; Durr, Alexandra
Inflammation and acute cardiotoxicity in adult hematological patients treated with CAR-T cells: results from a pilot proof-of-concept study
CARDIO-ONCOLOGY
IF3.2
2024-03-274
OAAI
Camilli, Massimiliano; Viscovo, Marcello; Felici, Tamara; Maggio, Luca; Ballacci, Federico; Carella, Giacomo; Bonanni, Alice; Lamendola, Priscilla; Tinti, Lorenzo; Di Renzo, Antonio; Coarelli, Giulia; Galli, Eugenio; Liuzzo, Giovanna; Burzotta, Francesco; Montone, Rocco Antonio; Sora, Federica; Sica, Simona; Hohaus, Stefan; Lanza, Gaetano Antonio; Crea, Filippo; Lombardo, Antonella; Minotti, Giorgio
Clinical and genetic keys to cerebellar ataxia due to FGF14 GAA expansions

FGF14 GAA扩张导致小脑共济失调的临床和遗传关键

EBIOMEDICINE
IF10.8
2024-01-0115
OAAI
Mereaux, Jean-Loup; Davoine, Claire-Sophie; Pellerin, David; Coarelli, Giulia; Coutelier, Marie; Ewenczyk, Claire; Monin, Marie -Lorraine; Anheim, Mathieu; Le Ber, Isabelle; Thobois, Stephane; Gobert, Florent; Guillot-Noel, Lena; Forlani, Sylvie; Jornea, Ludmila; Heinzmann, Anna; Sangare, Aude; Gaymard, Bertrand; Guyant-Marechal, Lucie; Charles, Perrine; Marelli, Cecilia; Honnorat, Jerome; Degos, Bertrand; Tison, Francois; Sangla, Sophie; Simonetta-Moreau, Marion; Salachas, Francois; Tchikviladze, Maya; Castelnovo, Giovanni; Mochel, Fanny; Klebe, Stephan; Castrioto, Anna; Fenu, Silvia; Meneret, Aurelie; Bourdain, Frederic; Wandzel, Marion; Roth, Virginie; Bonnet, Celine; Riant, Florence; Stevanin, Giovanni; Noel, Sandrine; Fauret-Amsellem, Anne-Laure; Bahlo, Melanie; Lockhart, Paul J.; Brais, Bernard; Renaud, Mathilde; Brice, Alexis; Durra, Alexandra
Individual perception of environmental factors that influence lower limbs spasticity in inherited spastic paraparesis

影响遗传性痉挛性截瘫下肢痉挛的环境因素的个体感知

ANNALS OF PHYSICAL AND REHABILITATION MEDICINE
IF4.6
2023-09-012
OAAI
Lallemant-Dudek, Pauline; Parodi, Livia; Coarelli, Giulia; Heinzmann, Anna; Charles, Perrine; Ewenczyk, Claire; Fenu, Silvia; Monin, Marie-Lorraine; Corcia, Philippe; Depienne, Christel; Mochel, Fanny; Benard, Jean; Montcel, Sophie Tezenas du; Durr, Alexandra
Extreme phenotypic heterogeneity in non-expansion spinocerebellar ataxias

非扩张性脊髓小脑共济失调的极端表型异质性

AMERICAN JOURNAL OF HUMAN GENETICS
IF8.1
2023-07-0116
OAAI
Cunha, Paulina; Petit, Emilien; Coutelier, Marie; Coarelli, Giulia; Mariotti, Caterina; Faber, Jennifer; Van Gaalen, Judith; Damasio, Joana; Fleszar, Zofia; Tosi, Michele; Rocca, Clarissa; De Michele, Giovanna; Minnerop, Martina; Ewenczyk, Claire; Santorelli, Filippo M.; Heinzmann, Anna; Bird, Thomas; Amprosi, Matthias; Indelicato, Elisabetta; Benussi, Alberto; Charles, Perrine; Stendel, Claudia; Romano, Silvia; Scarlato, Marina; Le Ber, Isabelle; Bassi, Maria Teresa; Serrano, Mercedes; Schmitz-Hubsch, Tanja; Doss, Sarah; Van Velzen, Gijs A. J.; Thomas, Quentin; Trabacca, Antonio; Ortigoza-Escobar, Juan Dario; D'Arrigo, Stefano; Timmann, Dagmar; Pantaleoni, Chiara; Martinuzzi, Andrea; Besse-Pinot, Elsa; Marsili, Luca; Cioffi, Ettore; Nicita, Francesco; Giorgetti, Alejandro; Moroni, Isabella; Romaniello, Romina; Casali, Carlo; Ponger, Penina; Casari, Giorgio; De Bot, Susanne T.; Ristori, Giovanni; Blumkin, Lubov; Borroni, Barbara; Goizet, Cyril; Marelli, Cecilia; Boesch, Sylvia; Anheim, Mathieu; Filla, Alessandro; Houlden, Henry; Bertini, Enrico; Klopstock, Thomas; Synofzik, Matthis; Riant, Florence; Zanni, Ginevra; Magri, Stefania; Di Bella, Daniela; Nanetti, Lorenzo; Sequeiros, Jorge; Oliveira, Jorge; Warrenburg, Bart Van de; Schoels, Ludger; Taroni, Franco; Brice, Alexis; Durr, Alexandra
Intermediate repeat expansions of TBP and STUB1: Genetic modifier or pure digenic inheritance in spinocerebellar ataxias?

TBP和STUB1的中间重复扩增: 脊髓小脑性共济失调中的遗传修饰还是纯的双基因遗传？

GENETICS IN MEDICINE
IF6.2
2023-02-0119
OAAI
Barbier, Mathieu; Davoine, Claire -Sophie; Petit, Emilien; Porch, Maximilien; Guillot-Noel, Lena; Sayah, Sabrina; Fauret, Anne-Laure; Neau, Jean-Philippe; Guyant-Marechal, Lucie; Deffond, Didier; Tranchant, Christine; Goizet, Cyril; Coarelli, Giulia; Castrioto, Anna; Klebe, Stephan; Ewenczyk, Claire; Heinzmann, Anna; Charles, Perrine; Tchikviladze, Maya; van Broeckhoven, Christine; Brice, Alexis; Durr, Alexandra
Two RFC1 splicing variants in CANVAS

画布中的两个RFC1剪接变体

BRAIN
IF11.7
2022-12-079
PRE
Weber, Sacha; Coarelli, Giulia; Heinzmann, Anna; Monin, Marie-Lorraine; Richard, Nicolas; Gerard, Marion; Durr, Alexandra; Huin, Vincent
The mitochondrial seryl-tRNA synthetase SARS2 modifies onset in spastic paraplegia type 4
GENETICS IN MEDICINE
IF6.2
2022-11-012
OAAI
Parodi, Livia; Barbier, Mathieu; Jacoupy, Maxime; Pujol, Claire; Lejeune, Francois-Xavier; Lallemant-Dudek, Pauline; Esteves, Typhaine; Pennings, Maartje; Kamsteeg, Erik-Jan; Guillaud-Bataille, Marine; Banneau, Guillaume; Coarelli, Giulia; Oumoussa, Badreddine Mohand; Fraidakis, Matthew J.; Stevanin, Giovanni; Depienne, Christel; van de Warrenburg, Bart; Brice, Alexis; Durr, Alexandra

研究方向

暂未获取到该数据
A
Alexandra Dürr
H 指数:119论文数:860被引数:5.9万
A
Alexis Brice
H 指数:153论文数:1,192被引数:11.6万
A
Anna Heinzmann
H 指数:15论文数:43被引数:1,029
C
Claire Ewenczyk
H 指数:31论文数:89被引数:3,080
P
Perrine Charles
H 指数:60论文数:200被引数:1.0万
G
Giovanni Stévanin
H 指数:83论文数:385被引数:2.1万
S
Sophie Tézenas du Montcel
H 指数:55论文数:261被引数:1.3万
F
Fanny Mochel
H 指数:58论文数:279被引数:9,954
E
Emilien Petit
H 指数:9论文数:24被引数:285
C
Cécilia Marelli
H 指数:36论文数:109被引数:5,249