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C

Cécilia Marelli

University of Montpellier and INSERM
H指数:36
被引数:5,254

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STUB1 (SCA48)/TBP (SCA17): A Frequent Association Still Not Fully Explained and a Lower Threshold for Intermediate Expanded TBP Alleles

STUB1 (SCA48)/TBP (SCA17): 一种频繁关联但仍未完全解释，且对中间扩展TBP等位基因有更低阈值

Movement Disorders
IF7.6
2026-03-270
OAAI
Cecilia Marelli MD, PhD; Quentin Charret PhD; Cyril Goizet MD, PhD; Julien Thevenon MD, PhD; Virginie Bernard PhD; Fabienne Ory Magne MD; Manon Degoutin MD; Patricia Fergelot MD, PhD; Mathilde Renaud MD, PhD; Michel Koenig MD, PhD; Francis Ramond MD, PhD
Type and position of repeat interruptions as determinants of disease severity and expansion size in Friedreich ataxia

重复中断的类型和位置作为影响 Friedreich 共济失调疾病严重程度和扩展尺寸的决定因素

Genetics in Medicine
IF6.2
2025-09-230
PRE
Mehdi Benkirane; Cecilia Marelli; Ariane Choumert; Cyril Goizet; Olivier Patat; Claire Ewenczyk; Mathieu Anheim; André Mégarbané; Lise Larrieu; Cyril Charlin; Fabienne Ory Magne; Annabelle Chaussenot; Mélanie Fradin; Claire Guissart; Morgane Pointaux; Mireille Cossée; Marie-Claire Vincent; Anne Bergougnoux; Clément Hersent; Corinne Bareil; Agathe Roubertie; Frédérique Fluchère; Mathilde Renaud; Laurent Kremer; Christine Tranchant; Shahram Attarian; Sylvie Odent; Vincent Laugel; Ulrike Walther-Louvier; Beatrice Desnous; Eric Bieth; Isabelle Husson; Jean Phillipe Azulay; François Rivier; Bérénice Doray; Alexandra Durr; Safa Aouinti; Nicolas Molinari; Michel Koenig
Comparison of tetrabenazine, tiapride and olanzapine in Huntington’s disease: a one-year French randomized multicenter study (Neuro-HD)

四氢苯并二氮䓬、硫必利和奥氮平在亨廷顿病中的比较：一项为期一年的法国多中心随机研究（Neuro-HD）

Parkinsonism & Related Disorders
IF3.4
2025-09-030
PREAI
Katia Youssov; Etienne Audureau; Jérémie Pariente; Jean-Philippe Azulay; Isabelle Benatru; Alexandra Durr; Pierre Krystkowiak; Cecilia Marelli; Christine Tranchant; Clémence Simonin; Christophe Verny; Anne-Catherine Bachoud-Lévi
The Frequencies of Different Inborn Errors of Metabolism in Adult Metabolic Centres: 10 Years Later, Another Report From the SSIEM Adult Metabolic Physicians Group

不同遗传代谢病在成人代谢中心的频率：10年后，SSIEM成人代谢医师组的另一份报告

JOURNAL OF INHERITED METABOLIC DISEASE
IF3.8
2025-02-060
PRE
Tchan, Michel; Lehman, Anna; van Dussen, Laura; Langendonk, Janneke G.; Janssen, Mirian C. H.; Langeveld, Mirjam; Murphy, Elaine; Ryder, Bryony; Glamuzina, Emma; Merkel, Martin; Sechi, Annalisa; Arnoux, Jean-Baptiste; Mochel, Fanny; Alkemade, Gonnie; Maillot, Francois; Kaphan, Elsa; Mazodier, Karin; Thomas, Quentin; Leguy-Seguin, Vanessa; Marelli, Cecilia
De novo and inherited monoallelic variants in TUBA4A cause ataxia and spasticity
BRAIN
IF11.7
2024-06-170
PRE
Benkirane, Mehdi; Bonhomme, Marion; Morsy, Heba; Safgren, Stephanie L.; Marelli, Cecilia; Chaussenot, Annabelle; Smedley, Damian; Cipriani, Valentina; de Sainte-Agathe, Jean-Madeleine; Ding, Can; Larrieu, Lise; Vestito, Letizia; Margot, Henri; Lesca, Gaetan; Ramond, Francis; Castrioto, Anna; Baux, David; Verheijen, Jan; Sansa, Emna; Giunti, Paola; Haetty, Aline; Bergougnoux, Anne; Pointaux, Morgane; Ardouin, Olivier; Van Goethem, Charles; Vincent, Marie-Claire; Hadjivassiliou, Marios; Cossee, Mireille; Rouaud, Tiphaine; Bartsch, Oliver; Freeman, William D.; Wierenga, Klaas J.; Klee, Eric W.; Vandrovcova, Jana; Houlden, Henry; Debant, Anne; Koenig, Michel
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
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
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
Three-Country Snapshot of Ornithine Transcarbamylase Deficiency
LIFE-BASEL
IF3.4
2022-10-277
OAAI
Seker Yilmaz, Berna; Baruteau, Julien; Arslan, Nur; Aydin, Halil Ibrahim; Barth, Magalie; Bozaci, Ayse Ergul; Brassier, Anais; Canda, Ebru; Cano, Aline; Chronopoulou, Efstathia; Connolly, Grainne M.; Damaj, Lena; Dawson, Charlotte; Dobbelaere, Dries; Douillard, Claire; Eminoglu, Fatma Tuba; Erdol, Sahin; Ersoy, Melike; Fang, Sherry; Feillet, Francois; Gokcay, Gulden; Goksoy, Emine; Gorce, Magali; Inci, Asli; Kadioglu, Banu; Kardas, Fatih; Kasapkara, Cigdem Seher; Kilic Yildirim, Gonca; Kor, Deniz; Kose, Melis; Marelli, Cecilia; Mundy, Helen; O'Sullivan, Siobhan; Ozturk Hismi, Burcu; Ramachandran, Radha; Roubertie, Agathe; Sanlilar, Mehtap; Schiff, Manuel; Sreekantam, Srividya; Stepien, Karolina M.; Uzun Unal, Ozlem; Yildiz, Yilmaz; Zubarioglu, Tanyel; Gissen, Paul
RFC1 nonsense and frameshift variants cause CANVAS: clues for an unsolved pathophysiology

RFC1废话和移码变体导致画布: 未解决的病理生理学的线索

BRAIN
IF11.7
2022-07-2726
OA
Benkirane, Mehdi; Da Cunha, Dylan; Marelli, Cecilia; Larrieu, Lise; Renaud, Mathilde; Varilh, Jessica; Pointaux, Morgane; Baux, David; Ardouin, Olivier; Vangoethem, Charles; Taulan, Magali; Duport, Benjamin Daumas; Bergougnoux, Anne; Corbille, Anne Gaelle; Cossee, Mireille; Morales, Raul Juntas; Tuffery-Giraud, Sylvie; Koenig, Michel; Isidor, Bertrand; Vincent, Marie Claire
High rate of hypomorphic variants as the cause of inherited ataxia and related diseases: study of a cohort of 366 families
GENETICS IN MEDICINE
IF6.2
2021-11-0118
OAAI
Benkirane, Mehdi; Marelli, Cecilia; Guissart, Claire; Roubertie, Agathe; Ollagnon, Elizabeth; Choumert, Ariane; Fluchere, Frederique; Magne, Fabienne Ory; Halleb, Yosra; Renaud, Mathilde; Larrieu, Lise; Baux, David; Patat, Olivier; Bousquet, Idriss; Ravel, Jean-Marie; Cuntz-Shadfar, Danielle; Sarret, Catherine; Ayrignac, Xavier; Rolland, Anne; Morales, Raoul; Pointaux, Morgane; Lieutard-Haag, Cathy; Laurens, Brice; Tillikete, Caroline; Bernard, Emilien; Mallaret, Martial; Carra-Dalliere, Clarisse; Tranchant, Christine; Meyer, Pierre; Damaj, Lena; Pasquier, Laurent; Acquaviva, Cecile; Chaussenot, Annabelle; Isidor, Bertrand; Nguyen, Karine; Camu, William; Eusebio, Alexandre; Carriere, Nicolas; Riquet, Audrey; Thouvenot, Eric; Gonzales, Victoria; Carme, Emilie; Attarian, Shahram; Odent, Sylvie; Castrioto, Anna; Ewenczyk, Claire; Charles, Perrine; Kremer, Laurent; Sissaoui, Samira; Bahi-buisson, Nadia; Kaphan, Elsa; Degardin, Adrian; Doray, Berenice; Julia, Sophie; Remerand, Ganaelle; Fraix, Valerie; Haidar, Lydia Abou; Lazaro, Leila; Laugel, Vincent; Villega, Frederic; Charlin, Cyril; Frismand, Solene; Moreira, Marinha Costa; Witjas, Tatiana; Francannet, Christine; Walther-Louvier, Ulrike; Fradin, Melanie; Chabrol, Brigitte; Fluss, Joel; Bieth, Eric; Castelnovo, Giovanni; Vergnet, Sylvain; Meunier, Isabelle; Verloes, Alain; Brischoux-Boucher, Elise; Coubes, Christine; Genevieve, David; Lebouc, Nicolas; Azulay, Jean Phillipe; Anheim, Mathieu; Goizet, Cyril; Rivier, Francois; Labauge, Pierre; Calvas, Patrick; Koenig, Michel
Clinical, neuropathological, and genetic characterization of STUB1 variants in cerebellar ataxias: a frequent cause of predominant cognitive impairment (vol 22, pg 1851, 2020)
GENETICS IN MEDICINE
IF6.2
2021-10-011
OAAI
Roux, Thomas; Barbier, Mathieu; Papin, Melanie; Davoine, Claire-Sophie; Sayah, Sabrina; Coarelli, Giulia; Charles, Perrine; Marelli, Cecilia; Parodi, Livia; Tranchant, Christine; Goizet, Cyril; Klebe, Stephan; Lohmann, Ebba; Van Maldergem, Lionel; van Broeckhoven, Christine; Coutelier, Marie; Tesson, Christelle; Stevanin, Giovanni; Duyckaerts, Charles; Brice, Alexis; Durr, Alexandra
Implication of folate deficiency in CYP2U1 loss of function
JOURNAL OF EXPERIMENTAL MEDICINE
IF10.6
2021-09-2112
OAAI
Pujol, Claire; Legrand, Anne; Parodi, Livia; Thomas, Priscilla; Mochel, Fanny; Saracino, Dario; Coarelli, Giulia; Croon, Marijana; Popovic, Milica; Valet, Manon; Villain, Nicolas; Elshafie, Shahira; Issa, Mahmoud; Zuily, Stephane; Renaud, Mathilde; Marelli-Tosi, Cecilia; Legendre, Marine; Trimouille, Aurelien; Kemlin, Isabelle; Mathieu, Sophie; Gleeson, Joseph G.; Lamari, Foudil; Galatolo, Daniele; Alkouri, Rana; Tse, Chantal; Rodriguez, Diana; Ewenczyk, Claire; Fellmann, Florence; Kuntzer, Thierry; Blond, Emilie; El Hachimi, Khalid H.; Darios, Frederic; Seyer, Alexandre; Gazi, Anastasia D.; Giavalisco, Patrick; Perin, Silvina; Boucher, Jean-Luc; Le Corre, Laurent; Santorelli, Filippo M.; Goizet, Cyril; Zaki, Maha S.; Picaud, Serge; Mourier, Arnaud; Steculorum, Sophie Marie; Mignot, Cyril; Durr, Alexandra; Trifunovic, Aleksandra; Stevanin, Giovanni
Clinical, neuropathological, and genetic characterization of STUB1 variants in cerebellar ataxias: a frequent cause of predominant cognitive impairment

小脑共济失调中STUB1变体的临床，神经病理学和遗传特征: 主要认知障碍的常见原因

GENETICS IN MEDICINE
IF6.2
2020-11-0134
OAAI
Roux, Thomas; Barbier, Mathieu; Papin, Melanie; Davoine, Claire-Sophie; Sayah, Sabrina; Coarelli, Giulia; Charles, Perrine; Marelli, Cecilia; Parodi, Livia; Tranchant, Christine; Goizet, Cyril; Klebe, Stephan; Lohmann, Ebba; Van Maldergen, Lionel; van Broeckhoven, Christine; Coutelier, Marie; Tesson, Christelle; Stevanin, Giovanni; Duyckaerts, Charles; Brice, Alexis; Durr, Alexandra
Cerebrospinal Fluid and Plasma Biomarkers do not Differ in the Presenile and Late -Onset Behavioral Variants of Frontotemporal Dementia
JOURNAL OF ALZHEIMERS DISEASE
IF3.1
2020-04-0712
OAAI
Marelli, Cecilia; Hourregue, Claire; Gutierrez, Laure-Anne; Paquet, Claire; de Champfleur, Nicolas Menjot; De Verbizier, Delphine; Jacob, Melissa; Dubois, Jonathan; Maleska, Aleksandra Maceski; Hirtz, Christophe; Navucet, Sophie; Bennys, Karim; Dumurgier, Julien; Cognat, Emmanuel; Berr, Claudine; Magnin, Eloi; Lehmann, Sylvain; Gabelle, Audrey

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
C
Cyril Goizet
H 指数:65论文数:320被引数:1.3万
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
M
Mathieu Anheim
H 指数:59论文数:381被引数:1.6万
C
Christine Tranchant
H 指数:68论文数:554被引数:1.6万
F
Fanny Mochel
H 指数:58论文数:279被引数:9,961
G
Giulia Coarelli
H 指数:28论文数:102被引数:2,924
C
Claire Ewenczyk
H 指数:31论文数:89被引数:3,082