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M

Marco Savarese

folkhälsan research center
H指数:31
被引数:3,267

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Beyond distal arthrogryposis: refining the phenotypic landscape of PIEZO2-related disorders

超越远端关节挛缩症：精炼PIEZO2相关疾病的表型景观

Brain
IF11.7
2026-07-240
OAAI
Giuliana Capece; Maria Francesca Di Feo; Evgeniya Melnik; Elena Dadali; Tatiana Markova; Alain Verloes; Federica Ruscitti; Jonathan Lévy; Daniel Natera-de Benito; Carlos Ortez; Andres Nascimiento; Berta Estevez-Arias; Cristina Jou; Sergei Kurbatov; Aysylu Murtazina; Artem Sharkov; Nour Elkhateeb; Walaa ElNaggar; Flavio Faletra; Catia Mio; Jennifer Schymick; Paige Calvert; Yasemin Alanay; Esra Isik; Berkay Yıldız; Somayeh Bakhtiari; Michael C Kruer; Andreas Roos; Heike Kölbel; Hossein Darvish; Shohreh Vosoogh; Eliane Chouery; Cybel Mehawej; André Mégarbané; J Andoni Urtizberea; Henriette V F Senghor; Moustapha Ndiaye; Pedro M Rodriguez Cruz; Luca Bello; Elena Pegoraro; Bjarne Udd; Marco Savarese
Clinical, morphological, and molecular characterization of patients with X-linked myopathy with excessive autophagy (XMEA)

X连锁过度自噬肌病（XMEA）患者的临床、形态学和分子特征

Journal of Neuropathology and Experimental Neurology
IF3
2025-11-010
PRE
Merlet, Angele N.; Lacene, Emmanuelle; Nelson, Isabelle; Brochier, Guy; Labasse, Clemence; Chanut, Anais; Madelaine, Angeline; Beuvin, Maud; Bonne, Gisele; Feasson, Leonard; Minot, Marie-Christine; Noury, Jean-Baptiste; Fradin, Melanie; Savarese, Marco; Fernandez-Eulate, Gorka; Behin, Anthony; Stojkovic, Tanya; Hentschel, Andreas; Marcorelles, Pascale; Roos, Andreas; Evangelista, Teresinha
Novel missense variants associated with GNE myopathy

与GNE肌病相关的 novel missense variants

Neuromuscular Disorders
IF2.8
2025-10-250
PRE
Johanna Ranta-aho; Viviana Cetrangolo; Luca Bello; Giuliana Capece; Elena Pegoraro; Maria Francesca Di Feo; Violeta Mihaylova; Hans H. Jung; Fabien Hauw; Tanya Stojkovic; Anthony Behin; Norma Romero; Thierry Maisonobe; Matteo Lucchini; Miguel Oliveira Santos; Massimiliano Mirabella; Giorgio Tasca; Marco Savarese; Bjarne Udd; Mridul Johari
OBSCN undergoes extensive alternative splicing during human cardiac and skeletal muscle development (vol 15, 5, 2025)

OBSCN在人类心脏和骨骼肌发育过程中经历广泛的替代性剪接（vol 15, 5, 2025）

SKELETAL MUSCLE
IF4.4
2025-04-070
OA
Oghabian, Ali; Jonson, Per Harald; Gayathri, Swethaa Natraj; Johari, Mridul; Nippala, Ella; Andres, David Gomez; Munell, Francina; Soriano, Jessica Camacho; Duran, Maria Angeles Sanchez; Sinisalo, Juha; Tolppanen, Heli; Tolva, Johanna; Hackman, Peter; Savarese, Marco; Udd, Bjarne
Expert panel curation of 31 genes in relation to limb girdle muscular dystrophy
ANNALS OF CLINICAL AND TRANSLATIONAL NEUROLOGY
IF3.9
2024-08-301
OAAI
Mohan, Shruthi; McNulty, Shannon; Thaxton, Courtney; Elnagheeb, Marwa; Owens, Emma; Flowers, May; Nunnery, Teagan; Self, Autumn; Palus, Brooke; Gorokhova, Svetlana; Kennedy, April; Niu, Zhiyv; Johari, Mridul; Maiga, Alassane Baneye; Macalalad, Kelly; Clause, Amanda R.; Beckmann, Jacques S.; Bronicki, Lucas; Cooper, Sandra T.; Ganesh, Vijay S.; Kang, Peter B.; Kesari, Akanchha; Lek, Monkol; Levy, Jennifer; Rufibach, Laura; Savarese, Marco; Spencer, Melissa J.; Straub, Volker; Tasca, Giorgio; Weihl, Conrad C.
Inferring disease course from differential exon usage in the wide titinopathy spectrum
ANNALS OF CLINICAL AND TRANSLATIONAL NEUROLOGY
IF3.9
2024-08-281
OA
Di Feo, Maria Francesca; Oghabian, Ali; Nippala, Ella; Gautel, Mathias; Jungbluth, Heinz; Forzano, Francesca; Malfatti, Edoardo; Castiglioni, Claudia; Krey, Ilona; Andres, David Gomez; Brady, Angela F.; Iascone, Maria; Cereda, Anna; Pezzani, Lidia; De Benito, Daniel Natera; Osorio, Andres Nascimiento; Arias, Berta Estevez; Kurbatov, Sergei A.; Attie-Bitach, Tania; Nampoothiri, Sheela; Ryan, Erin; Morrow, Michelle; Gorokhova, Svetlana; Chabrol, Brigitte; Sinisalo, Juha; Tolppanen, Heli; Tolva, Johanna; Munell, Francina; Soriano, Jessica Camacho; Duran, Maria Angeles Sanchez; Johari, Mridul; Tajsharghi, Homa; Hackman, Peter; Udd, Bjarne; Savarese, Marco
Clinical, Histopathologic, and Genetic Features of Patients With Myofibrillary and Distal Myopathies Experience From the Italian Network
NEUROLOGY
IF8.5
2024-08-271
PRE
Bortolani, Sara; Savarese, Marco; Vattemi, Gaetano; Bonanno, Silvia; Falzone, Yuri M.; Pugliese, Alessia; Primiano, Guido; Sancricca, Cristina; Lopergolo, Diego; Greco, Giulia; Gemelli, Chiara; Ravaglia, Sabrina; Bencivenga, Roberta P.; Velardo, Daniele; Magri, Francesca; Valentino, Maria L.; Cheli, Marta; Torchia, Eleonora; Lucchini, Matteo; Petrucci, Antonio; Ricci, Giulia; Garibaldi, Matteo; Astrea, Guja; Rubegni, Anna; Angelini, Corrado I.; Ariatti, Alessandra; Santorelli, Filippo M.; Ruggieri, Alessandra; Antonini, Giovanni; Siciliano, Gabriele; Filosto, Massimiliano; Mirabella, Massimiliano; Liguori, Rocco; Comi, Giacomo P.; Ruggiero, Lucia; Grandis, Marina; Massa, Roberto; Malandrini, Alessandro; Servidei, Serenella; Mongini, Tiziana E.; Rodolico, Carmelo; Toscano, Antonio; Previtali, Stefano C.; Tonin, Paola; Diaz-Manera, Jordi; Monforte, Mauro; Ricci, Enzo; Maggi, Lorenzo; Tasca, Giorgio
Digenic inheritance involving a muscle-specific protein kinase and the giant titin protein causes a skeletal muscle myopathy
NATURE GENETICS
IF31.8
2024-03-017
OAAI
Toepf, Ana; Cox, Dan; Zaharieva, Irina T.; Di Leo, Valeria; Sarparanta, Jaakko; Jonson, Per Harald; Sealy, Ian M.; Smolnikov, Andrei; White, Richard J.; Vihola, Anna; Savarese, Marco; Merteroglu, Munise; Wali, Neha; Laricchia, Kristen M.; Venturini, Cristina; Vroling, Bas; Stenton, Sarah L.; Cummings, Beryl B.; Harris, Elizabeth; Marini-Bettolo, Chiara; Diaz-Manera, Jordi; Henderson, Matt; Barresi, Rita; Duff, Jennifer; England, Eleina M.; Patrick, Jane; Al-Husayni, Sundos; Biancalana, Valerie; Beggs, Alan H.; Bodi, Istvan; Bommireddipalli, Shobhana; Boennemann, Carsten G.; Cairns, Anita; Chiew, Mei-Ting; Claeys, Kristl G.; Cooper, Sandra T.; Davis, Mark R.; Donkervoort, Sandra; Erasmus, Corrie E.; Fassad, Mahmoud R.; Genetti, Casie A.; Grosmann, Carla; Jungbluth, Heinz; Kamsteeg, Erik-Jan; Lornage, Xaviere; Loescher, Wolfgang N.; Malfatti, Edoardo; Manzur, Adnan; Marti, Pilar; Mongini, Tiziana E.; Muelas, Nuria; Nishikawa, Atsuko; O'Donnell-Luria, Anne; Ogonuki, Narumi; O'Grady, Gina L.; O'Heir, Emily; Paquay, Stephanie; Phadke, Rahul; Pletcher, Beth A.; Romero, Norma B.; Schouten, Meyke; Shah, Snehal; Smuts, Izelle; Sznajer, Yves; Tasca, Giorgio; Taylor, Robert W.; Tuite, Allysa; van den Bergh, Peter; Vannoy, Grace; Voermans, Nicol C.; Wanschitz, Julia V.; Wraige, Elizabeth; Yoshimura, Kimihiko; Oates, Emily C.; Nakagawa, Osamu; Nishino, Ichizo; Laporte, Jocelyn; Vilchez, Juan J.; Macarthur, Daniel G.; Sarkozy, Anna; Cordell, Heather J.; Udd, Bjarne; Busch-Nentwich, Elisabeth M.; Muntoni, Francesco; Straub, Volker
Titin copy number variations associated with dominant inherited phenotypes
JOURNAL OF MEDICAL GENETICS
IF3.7
2023-11-070
OA
Perrin, Aurelien; Metay, Corinne; Savarese, Marco; Ben Yaou, Rabah; Demidov, German; Nelson, Isabelle; Sole, Guilhem; Pereon, Yann; Bertini, Enrico Silvio; Fattori, Fabiana; D'Amico, Adele; Ricci, Federica; Ginsberg, Mira; Seferian, Andreea; Boespflug-Tanguy, Odile; Servais, Laurent; Chapon, Francoise; Lagrange, Emmeline; Gaudon, Karen; Bloch, Adrien; Ghanem, Robin; Guyant-Marechal, Lucie; Johari, Mridul; Van Goethem, Charles; Fardeau, Michel; Morales, Raul Juntas; Genetti, Casie A.; Marttila, Minttu; Koenig, Michel; Beggs, Alan; Udd, Bjarne; Bonne, Gisele; Cossee, Mireille

研究方向

暂未获取到该数据
M
Mridul Johari
H 指数:19论文数:101被引数:1,172
P
Peter Hackman
H 指数:45论文数:553被引数:7,114
B
Bjarne Udd
H 指数:55论文数:1,027被引数:1.0万
V
Vincenzo Nigro
H 指数:55论文数:411被引数:1.2万
B
Bjarne Udd
H 指数:41论文数:193被引数:5,634
A
Anna Vihola
H 指数:35论文数:108被引数:4,821
P
Per Harald Jonson
H 指数:21论文数:96被引数:1,862
A
Annalaura Torella
H 指数:33论文数:171被引数:3,610
G
Giorgio Tasca
H 指数:44论文数:304被引数:6,045
F
Filippo M. Santorelli
H 指数:75论文数:864被引数:2.2万