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M

Marco Spinazzi

centre hospitalier universitaire d'angers
H指数:27
被引数:3,754

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Metabolomics Reveals Multiple Metabolic Alterations and Biomarkers of Disease Severity in Facioscapulohumeral Muscle Dystrophy

代谢组学揭示面肩肱型肌营养不良中多种代谢改变与疾病严重程度的生物标志物

Journal of Cachexia Sarcopenia and Muscle
IF9.1
2026-11-130
OAAI
Pascal Reynier; Mathieu Michel; Patrick Vandeputte; Noemi Albano; Dario Zoppi; Charlène Gillet; Sara Pini; Andi Nuredini; Martina De Maria; Odile Blanchet; Naig Gueguen; Juan Manuel Chao de la Barca; Lucia Ruggiero; Rossella Tupler; Marco Spinazzi
A Recurrent 3′UTR Variant in CAPN3 Highlights the Diagnostic Impact of Non-Coding Variants in Limb-Girdle Muscular Dystrophies

CAPN3基因中一个重复的3′UTR变异突出了非编码变异在肢带型肌营养不良症中的诊断意义

Annals of Neurology
IF7.7
2026-10-220
PRE
Berta Estévez-Arias PhD; Alba Segarra-Casas PhD; Pedro Seoane PhD; Lindsay Romo MD, PhD; Kiran Polavarapu PhD; Juliette Nectoux PhD; Marta Caballero-Ávila MD; Christina Austin-Tse PhD; Marina Konyukh MD, PhD; Katharina Obeid PhD; Katrin Hinderhofer PhD; Ozge Aksel-Kilicarslan MD; Leslie Matalonga PhD; Elena Rojano PhD; Juan AG Ranea PhD; Emily O'Heir BSc; Moriel Singer-Berk MSc; Melanie O'Leary MSc; Anne O'Donnell-Luria MD, PhD; Marco Spinazzi MD, PhD; Camille Verebi PhD; France Leturcq MD; Peter Van Den Bergh MD, PhD; Sabine Specht MD; Noemí de Luna PhD; Marta de Castro MD; Jennifer Roggenbuck MSc; Laura Carrera-García MD, PhD; Jesica Expósito-Escudero MD; Cristina Jou MD, PhD; Carlos Ortez MD; Laura Llansó MD; Aurelio Hernández-Laín MD, PhD; Volker Straub MD, PhD; Pia Gallano PhD; Andrés Nascimento MD, PhD; Teresinha Evangelista MD; Montse Olivé MD, PhD; Cristina Domínguez-González MD, PhD; Hanns Lochmüller MD, PhD; Edoardo Malfatti MD, PhD; Ana Töpf PhD; Eduard Gallardo PhD; Lidia González-Quereda PhD; Daniel Natera-de Benito MD, PhD
Pathophysiological insights into ACO2-related inherited disorders through combined functional and multi-omic analyses of ACO2 patient-derived fibroblasts

通过ACO2患者衍生的成纤维细胞的组合功能学和多组学分析，揭示ACO2相关遗传性疾病的病理生理学机制

Scientific Reports
IF3.9
2026-09-190
OA
Cléis Beaulieu; Aymane Bouzidi; Cinzia Bocca; Ismail Gouiza; Naïg Gueguen; Valérie Desquiret-Dumas; Béatrice Vary; Majida Charif; Magalie Barth; Morgane Le Mao; Florence Pascaretti-Grizon; Adélie Mellinger; Nolwenn Bounaix; Delphine Prunier-Mirebeau; Salim Khiati; Marco Spinazzi; Arnaud Chevrollier; Olivier R. Baris; Guy Lenaers
Causes of Death and Comorbidities in Adult Patients With Late-Onset Pompe Disease: A French Pompe Registry Retrospective Study

成人迟发性庞贝病患者死亡原因及合并症：一项法国庞贝注册登记研究

European Journal of Neurology
IF3.9
2025-10-270
OAAI
Diana Maria Chitimus; Céline Tard; Maxime Fournier; Françoise Bouhour; Anthony Béhin; Emmanuelle Salort-Campana; Emmeline Lagrange; Anne-Laure Kaminsky; Armelle Magot; Stéphane Beltran; Jean-Baptiste Noury; Laurent Magy; Guilhem Solé; Dimitri Renard; Marco Spinazzi; Florence Demurger; Pascal Cintas; Aleksandra Nadaj-Pakleza; Joelle Deibener-Kaminsky; Guillaume Bassez; Nadjib Taouagh; Azzedine Arrassi; Claire Lefeuvre; Sharam Attarian; Dalil Hamroun; Pascal Laforêt; for French Pompe study group
Diagnostic Impasse and Wandering in Patients With Rare Neuromuscular Diseases: Insights Into Patient Characteristics From the French National Network for Rare Neuromuscular Diseases (FILNEMUS) and the French National Rare Disease Database (BNDMR)

罕见神经肌肉疾病患者的诊断困境与诊断延迟：来自法国罕见神经肌肉疾病国家网络（FILNEMUS）和法国国家罕见病数据库（BNDMR）的患者特征洞察

EUROPEAN JOURNAL OF NEUROLOGY
IF3.9
2025-09-010
OAAI
Dumas, Remy; Jannot, Anne-Sophie; Elarouci, Nabila; Salort-Campana, Emmanuelle; Pisella, Lucie; Tard, Celine; Sacconi, Sabrina; Bouhour, Francoise; Sarrazin, Elisabeth; Spinazzi, Marco; Laforet, Pascal; Pereon, Yann; Nadaj-Pakleza, Aleksandra; Echaniz-Laguna, Andoni; Choumert, Ariane; Magy, Laurent; Feasson, Leonard; Esselin, Florence; Cances, Claude; Espile, Caroline; Desguerre, Isabelle; Rouzier, Cecile; Cintas, Pascal; Stojkovic, Tanya; Sole, Guilhem; Attarian, Shahram; FILNEMUS Study Grp
SMCHD1 genetic variants in type 2 facioscapulohumeral dystrophy and challenges in predicting pathogenicity and disease penetrance
EUROPEAN JOURNAL OF HUMAN GENETICS
IF4.6
2024-12-260
PRE
Gerard, Laurene; Delourme, Megane; Tardy, Charlotte; Ganne, Benjamin; Perrin, Pierre; Chaix, Charlene; Trani, Jean Philippe; Eudes, Nathalie; Laberthonniere, Camille; Bertaux, Karine; Missirian, Chantal; Bassez, Guillaume; Behin, Anthony; Cintas, Pascal; Cluse, Florent; de la Cruz, Elisa; Delmont, Emilien; Evangelista, Teresinha; Fradin, Melanie; Hadouiri, Nawale; Kouton, Ludivine; Laforet, Pascal; Lefeuvre, Claire; Magot, Armelle; Manel, Veronique; Nectoux, Juliette; Pegat, Antoine; Sole, Guilhem; Spinazzi, Marco; Stojkovic, Tanya; Svahn, Juliette; Tard, Celine; Thauvin, Christel; Verebi, Camille; Salort Campana, Emmanuelle; Attarian, Shahram; Nguyen, Karine; Badache, Ali; Bernard, Rafaelle; Magdinier, Frederique
Spinal muscular atrophy is also a disorder of spermatogenesis
ORPHANET JOURNAL OF RARE DISEASES
IF3.5
2024-12-200
OAAI
Magot, Armelle; Reignier, Arnaud; Binois, Olivier; Bedat-Millet, Anne Laure; Davion, Jean-Baptiste; Deberge, Louise; Ghorab, Karima; Guyant, Lucie; Laheranne, Emilie; Laforet, Pascal; Lefeuvre, Claire; Mallaret, Martial; Michaud, Maud; Omar, Chahla; Nadaj-Pakleza, Aleksandra; Nicolas, Guillaume; Noury, Jean Baptiste; Pegat, Antoine; Pere, Morgane; Salort-Campana, Emmanuelle; Sole, Guilhem; Spinazzi, Marco; Tard, Celine; Vuillerot, Carole; Pereon, Yann
Congenital myasthenic syndromes in adults: clinical features, diagnosis and long-term prognosis
BRAIN
IF11.7
2024-05-021
OAAI
Theuriet, Julian; Masingue, Marion; Behin, Anthony; Ferreiro, Ana; Bassez, Guillaume; Jaubert, Pauline; Tarabay, Oriana; Fer, Frederic; Pegat, Antoine; Bouhour, Francoise; Svahn, Juliette; Petiot, Philippe; Jomir, Laurentiu; Chauplannaz, Guy; Cornut-Chauvinc, Catherine; Manel, Veronique; Salort-Campana, Emmanuelle; Attarian, Shahram; Fortanier, Etienne; Verschueren, Annie; Kouton, Ludivine; Camdessanche, Jean-Philippe; Tard, Celine; Magot, Armelle; Pereon, Yann; Noury, Jean-Baptiste; Minot-Myhie, Marie-Christine; Perie, Maud; Taithe, Frederic; Farhat, Yacine; Millet, Anne-Laure; Cintas, Pascal; Sole, Guilhem; Spinazzi, Marco; Esselin, Florence; Renard, Dimitri; Sacconi, Sabrina; Ezaru, Andra; Malfatti, Edoardo; Mallaret, Martial; Magy, Laurent; Diab, Eva; Merle, Philippe; Michaud, Maud; Fournier, Maxime; Pakleza, Aleksandra Nadaj; Chanson, Jean-Baptiste; Lefeuvre, Claire; Laforet, Pascal; Richard, Pascale; Sternberg, Damien; Villar-Quiles, Rocio-Nur; Stojkovic, Tanya; Eymard, Bruno
Multidisciplinary team meetings in treatment of spinal muscular atrophy adult patients: a real-life observatory for innovative treatments

脊髓性肌萎缩症成人患者治疗中的多学科团队讨论会：创新疗法的真实世界观察研究

ORPHANET JOURNAL OF RARE DISEASES
IF3.5
2024-01-244
OAAI
Salort-Campana, Emmanuelle; Sole, Guilhem; Magot, Armelle; Tard, Celine; Noury, Jean-Baptiste; Behin, Anthony; De La Cruz, Elisa; Boyer, Francois; Lefeuvre, Claire; Masingue, Marion; Deberge, Louise; Finet, Armelle; Brison, Melanie; Spinazzi, Marco; Pegat, Antoine; Sacconi, Sabrina; Malfatti, Edoardo; Choumert, Ariane; Bellance, Remi; Bedat-Millet, Anne-Laure; Feasson, Leonard; Vuillerot, Carole; Jacquin-Piques, Agnes; Michaud, Maud; Pereon, Yann; Stojkovic, Tanya; Laforet, Pascal; Attarian, Shahram; Cintas, Pascal
Characteristics of Patients With Late-Onset Pompe Disease in France
NEUROLOGY
IF8.5
2023-08-293
OA
Lefeuvre, Claire; De Antonio, Marie; Bouhour, Francoise; Tard, Celine; Salort-Campana, Emmanuelle; Lagrange, Emmeline; Behin, Anthony; Sole, Guilhem; Noury, Jean-Baptiste; Sacconi, Sabrina; Magot, Armelle; Nadaj-Pakleza, Aleksandra; Lacour, Arnaud; Beltran, Stephane; Spinazzi, Marco; Cintas, Pascal; Renard, Dimitri; Michaud, Maud; Bedat-Millet, Anne-Laure; Prigent, Helene; Taouagh, Nadjib; Arrassi, Azzeddine; Hamroun, Dalil; Attarian, Shahram; Laforet, Pascal; Pompe Study Grp
Phenotype Presentation and Molecular Diagnostic Yield in Non-5q Spinal Muscular Atrophy
NEUROLOGY-GENETICS
IF3.7
2023-08-016
OAAI
Fernandez-Eulate, Gorka; Theuriet, Julian; Record, Christopher J.; Querin, Giorgia; Masingue, Marion; Leonard-Louis, Sarah; Behin, Anthony; Le Forestier, Nadine; Pegat, Antoine; Michaud, Maud; Chanson, Jean-Baptiste; Nadaj-Pakleza, Aleksandra; Tard, Celine; Bedat-Millet, Anne-Laure; Sole, Guilhem; Spinazzi, Marco; Salort-Campana, Emmanuelle; Echaniz-Laguna, Andoni; Poinsignon, Vianney; Latour, Philippe; Reilly, Mary M.; Bouhour, Francoise; Stojkovic, Tanya
PERK recruits E-Syt1 at ER-mitochondria contacts for mitochondrial lipid transport and respiration

PERK在ER-线粒体接触处招募E-Syt1，以进行线粒体脂质运输和呼吸

JOURNAL OF CELL BIOLOGY
IF6.4
2023-02-2317
OAAI
Sassano, Maria Livia; van Vliet, Alexander R. R.; Vervoort, Ellen; Van Eygen, Sofie; van den Haute, Chris; Pavie, Benjamin; Roels, Joris; Swinnen, Johannes V. V.; Spinazzi, Marco; Moens, Leen; Casteels, Kristina; Meyts, Isabelle; Pinton, Paolo; Marchi, Saverio; Rochin, Leila; Giordano, Francesca; Felipe-Abrio, Blanca; Agostinis, Patrizia
Improved detection of mitochondrial DNA instability in mitochondrial genome maintenance disorders
GENETICS IN MEDICINE
IF6.2
2021-09-016
OAAI
Bris, Celine; Goudenege, David; Desquiret-Dumas, Valerie; Gueguen, Naig; Bannwarth, Sylvie; Gaignard, Pauline; Rucheton, Benoit; Trimouille, Aurelien; Allouche, Stephane; Rouzier, Cecile; Saadi, Samira; Jardel, Claude; Slama, Abdel; Barth, Magalie; Verny, Christophe; Spinazzi, Marco; Cassereau, Julien; Colin, Estelle; Armelle, Magot; Pereon, Yann; Martin-Negrier, Marie Laure; Paquis-Flucklinger, Veronique; Letournel, Franck; Lenaers, Guy; Bonneau, Dominique; Reynier, Pascal; Amati-Bonneau, Patrizia; Procaccio, Vincent
Impact of Coronavirus Disease 2019 in a French Cohort of Myasthenia Gravis
NEUROLOGY
IF8.5
2021-04-2046
OA
Sole, Guilhem; Mathis, Stephane; Friedman, Diane; Salort-Campana, Emmanuelle; Tard, Celine; Bouhour, Francoise; Magot, Armelle; Annane, Djillali; Clair, Bernard; Le Masson, Gwendal; Soulages, Antoine; Duval, Fanny; Carla, Louis; Violleau, Marie-Helene; Saulnier, Tiphaine; Segovia-Kueny, Sandrine; Kern, Lea; Antoine, Jean-Christophe; Beaudonnet, Guillemette; Audic, Frederique; Kremer, Laurent; Chanson, Jean-Baptiste; Nadaj-Pakleza, Aleksandra; Stojkovic, Tanya; Cintas, Pascal; Spinazzi, Marco; Foubert-Samier, Alexandra; Attarian, Shahram

研究方向

暂未获取到该数据
C
C. Angelini
H 指数:108论文数:1,826被引数:5.1万
C
Céline Tard
H 指数:33论文数:230被引数:3,978
G
Guilhem Solé
H 指数:29论文数:195被引数:4,000
E
Emmanuelle Salort‐Campana
H 指数:37论文数:208被引数:4,824
A
Armelle Magot
H 指数:30论文数:176被引数:3,150
S
Shahram Attarian
H 指数:53论文数:447被引数:1.3万
P
Pascal Cintas
H 指数:29论文数:198被引数:3,663
P
Pascal Laforêt
H 指数:67论文数:549被引数:1.5万
T
Tanya Stojkovic
H 指数:59论文数:446被引数:1.1万
A
Anthony Béhin
H 指数:51论文数:333被引数:8,805