logo
科言猫学术研究的AI总结
language
手机端手机端
  • Phone Feature微信小程序
简体中文简体中文
notice消息通知
博客博客
arrow
M

Manu Jokela

Turku University Hospital and Tampere University
H指数:18
被引数:970

个人简介

暂无内容

教育背景

暂无内容

工作经历

暂无内容

荣誉奖项

暂无内容

Speech-based digital endpoints track ALS progression and align with standard clinical outcomes: evidence from the VRG50635 trial

基于语音的数字终点追踪肌萎缩侧索硬化症进展并与标准临床结果一致：VRG50635试验的证据

Scientific Reports
IF3.9
2026-04-140
OA
Michael Neumann; Hardik Kothare; Meredith Bartlett; Oliver Roesler; Christiane Suendermann-Oeft; Abhishek Hosamath; Lakshmi Arbatti; David Pautler; David Suendermann-Oeft; Diego Cadavid; Robert H. Scannevin; Ines Hoffmann; Anil Tarachandani; Tara Haley; Shane Raines; Philip Van Damme; Pentti Tienari; Eino Solje; Manu Jokela; Angela Genge; Colleen O’Connell; Ruben P. A. van Eijk; Leonard H. van den Berg; Vikram Ramanarayanan
Characterization of severe COL6-related dystrophy due to the recurrent variant COL6A1 c.930+189C>T

COL6相关严重型肌营养不良的表征：由复发性变异COL6A1 c.930+189C>T引起

Brain
IF11.7
2025-04-030
OA
A Reghan Foley; Véronique Bolduc; Fady Guirguis; Sandra Donkervoort; Ying Hu; Rotem Orbach; Riley M McCarty; Apurva Sarathy; Gina Norato; Beryl B Cummings; Monkol Lek; Anna Sarkozy; Russell J Butterfield; Janbernd Kirschner; Andrés Nascimento; Daniel Natera-de Benito; Susana Quijano-Roy; Tanya Stojkovic; Luciano Merlini; Giacomo Comi; Monique Ryan; Denise McDonald; Pinki Munot; Grace Yoon; Edward Leung; Erika Finanger; Meganne E Leach; James Collins; Cuixia Tian; Payam Mohassel; Sarah B Neuhaus; Dimah Saade; Benjamin T Cocanougher; Mary-Lynn Chu; Mena Scavina; Carla Grosmann; Randal Richardson; Brian D Kossak; Sidney M Gospe; Vikram Bhise; Gita Taurina; Baiba Lace; Monica Troncoso; Mordechai Shohat; Adel Shalata; Sophelia H S Chan; Manu Jokela; Johanna Palmio; Göknur Haliloğlu; Cristina Jou; Corine Gartioux; Herimela Solomon-Degefa; Carolin D Freiburg; Alvise Schiavinato; Haiyan Zhou; Sara Aguti; Yoram Nevo; Ichizo Nishino; Cecilia Jimenez-Mallebrera; Shireen R Lamandé; Valérie Allamand; Francesca Gualandi; Alessandra Ferlini; Daniel G MacArthur; Steve D Wilton; Raimund Wagener; Enrico Bertini; Francesco Muntoni; Carsten G Bönnemann
Anoctamin-5 related muscle disease: clinical and genetic findings in a large European cohort
BRAIN
IF11.7
2023-03-133
OA
de Bruyn, Alexander; Montagnese, Federica; Holm-Yildiz, Sonja; Poulsen, Nanna Scharff; Stojkovic, Tanya; Behin, Anthony; Palmio, Johanna; Jokela, Manu; De Bleecker, Jan L.; de Visser, Marianne; van der Kooi, Anneke J.; ten Dam, Leroy; Gonzalez, Cristina Dominguez; Maggi, Lorenzo; Gallone, Annamaria; Kostera-Pruszczyk, Anna; Macias, Anna; Lusakowska, Anna; Nedkova, Velina; Olive, Montse; Alvarez-Velasco, Rodrigo; Wanschitz, Julia; Paradas, Carmen; Mavillard, Fabiola; Querin, Giorgia; Fernandez-Eulate, Gorka; Quinlivan, Ros; Walter, Maggie C.; Depuydt, Christophe E.; Udd, Bjarne; Vissing, John; Schoser, Benedikt; Claeys, Kristl G.
NEB mutations disrupt the super-relaxed state of myosin and remodel the muscle metabolic proteome in nemaline myopathy
ACTA NEUROPATHOLOGICA COMMUNICATIONS
IF5.7
2022-12-1717
OA
Ranu, Natasha; Laitila, Jenni; Dugdale, Hannah F.; Mariano, Jennifer; Kolb, Justin S.; Wallgren-Pettersson, Carina; Witting, Nanna; Vissing, John; Vilchez, Juan Jesus; Fiorillo, Chiara; Zanoteli, Edmar; Auranen, Mari; Jokela, Manu; Tasca, Giorgio; Claeys, Kristl G.; Voermans, Nicol C.; Palmio, Johanna; Huovinen, Sanna; Moggio, Maurizio; Beck, Thomas Nyegaard; Kontrogianni-Konstantopoulos, Aikaterini; Granzier, Henk; Ochala, Julien
Intron mutations and early transcription termination in Duchenne and Becker muscular dystrophy

杜氏和贝克尔肌营养不良症的内含子突变和早期转录终止

HUMAN MUTATION
IF3.7
2022-03-0727
OA
Waldrop, Megan A.; Moore, Steven A.; Mathews, Katherine D.; Darbro, Benjamin W.; Medne, Livja; Finkel, Richard; Connolly, Anne M.; Crawford, Thomas O.; Drachman, Daniel; Wein, Nicolas; Habib, Ali A.; Krzesniak-Swinarska, Monika A.; Zaidman, Craig M.; Collins, James J.; Jokela, Manu; Udd, Bjarne; Day, John W.; Ortiz-Guerrero, Gloria; Statland, Jeff; Butterfield, Russell J.; Dunn, Diane M.; Weiss, Robert B.; Flanigan, Kevin M.
Bi-allelic loss-of-function OBSCN variants predispose individuals to severe recurrent rhabdomyolysis
BRAIN
IF11.7
2021-12-249
OA
Cabrera-Serrano, Macarena; Caccavelli, Laure; Savarese, Marco; Vihola, Anna; Jokela, Manu; Johari, Mridul; Capiod, Thierry; Madrange, Marine; Bugiardini, Enrico; Brady, Stefen; Quinlivan, Rosaline; Merve, Ashirwad; Scalco, Renata; Hilton-Jones, David; Houlden, Henry; Aydin, Halil Ibrahim; Ceylaner, Serdar; Drewes, Sarah; Vockley, Jerry; Taylor, Rhonda L.; Folland, Chiara; Kelly, Aasta; Goullee, Hayley; Ylikallio, Emil; Auranen, Mari; Tyynismaa, Henna; Udd, Bjarne; Forrest, Alistair R. R.; Davis, Mark R.; Bratkovic, Drago; Manton, Nicholas; Robertson, Thomas; O'Gorman, Cullen; McCombe, Pamela; Laing, Nigel G.; Phillips, Liza; de Lonlay, Pascale; Ravenscroft, Gianina
Missense mutations in small muscle protein X-linked (SMPX) cause distal myopathy with protein inclusions
ACTA NEUROPATHOLOGICA
IF9.3
2021-05-118
OAAI
Johari, Mridul; Sarparanta, Jaakko; Vihola, Anna; Jonson, Per Harald; Savarese, Marco; Jokela, Manu; Torella, Annalaura; Piluso, Giulio; Said, Edith; Vella, Norbert; Cauchi, Marija; Magot, Armelle; Magri, Francesca; Mauri, Eleonora; Kornblum, Cornelia; Reimann, Jens; Stojkovic, Tanya; Romero, Norma B.; Luque, Helena; Huovinen, Sanna; Lahermo, Paivi; Donner, Kati; Comi, Giacomo Pietro; Nigro, Vincenzo; Hackman, Peter; Udd, Bjarne
Genotype-phenotype correlations in recessive titinopathies

隐性titinopathies的基因型-表型相关性

GENETICS IN MEDICINE
IF6.2
2020-12-0140
OAAI
Savarese, Marco; Vihola, Anna; Oates, Emily C.; Barresi, Rita; Fiorillo, Chiara; Tasca, Giorgio; Jokela, Manu; Sarkozy, Anna; Luo, Sushan; Diaz-Manera, Jordi; Ehrstedt, Christoffer; Rojas-Garcia, Ricardo; Saenz, Amets; Muelas, Nuria; Lonardo, Fortunato; Fodstad, Heidi; Qureshi, Talha; Johari, Mridul; Valipakka, Salla; Luque, Helena; Petiot, Philippe; de Munain, Adolfo Lopez; Pane, Marika; Mercuri, Eugenio; Torella, Annalaura; Nigro, Vincenzo; Astrea, Guja; Santorelli, Filippo Maria; Bruno, Claudio; Kuntzer, Thierry; Illa, Isabel; Vilchez, Juan J.; Julien, Cedric; Ferreiro, Ana; Malandrini, Alessandro; Zhao, Chong-Bo; Casar-Borota, Olivera; Davis, Mark; Muntoni, Francesco; Hackman, Peter; Udd, Bjarne
An unusual ryanodine receptor 1 (RYR1) phenotype Mild calf-predominant myopathy

不寻常的ryanodine受体1 (RYR1) 表型轻度小牛为主的肌病

NEUROLOGY
IF8.5
2019-04-0213
PREAI
Jokela, Manu; Tasca, Giorgio; Vihola, Anna; Mercuri, Eugenio; Jonson, Per-Harald; Lehtinen, Sara; Valipakka, Salla; Pane, Marika; Donati, Maria; Johari, Mridul; Savarese, Marco; Huovinen, Sanna; Isohanni, Pirjo; Palmio, Johanna; Hartikainen, Paivi; Udd, Bjarne
Loss of MICOS complex integrity and mitochondrial damage, but not TDP-43 mitochondrial localisation, are likely associated with severity of CHCHD10-related diseases
NEUROBIOLOGY OF DISEASE
IF5.6
2018-11-0148
OAAI
Genin, Emmanuelle C.; Bannwarth, Sylvie; Lespinasse, Francoise; Ortega-Vila, Bernardo; Fragaki, Konstantina; Itoh, Kie; Villa, Elodie; Lacas-Gervais, Sandra; Jokela, Manu; Auranen, Mari; Ylikallio, Emil; Mauri-Crouzet, Alessandra; Tyynismaa, Henna; Vihola, Anna; Auge, Gaelle; Cochaud, Charlotte; Sesaki, Hiromi; Ricci, Jean-Ehrland; Udd, Bjarne; Vives-Bauza, Cristofol; Paquis-Flucklinger, Veronique

研究方向

暂未获取到该数据
B
Bjarne Udd
H 指数:55论文数:1,027被引数:1.0万
A
Anna Vihola
H 指数:35论文数:108被引数:4,825
S
Sanna Huovinen
H 指数:20论文数:68被引数:1,341
J
Johanna Palmio
H 指数:35论文数:147被引数:3,767
P
Peter Hackman
H 指数:45论文数:553被引数:7,115
M
Marco Savarese
H 指数:31论文数:204被引数:3,268
M
Mridul Johari
H 指数:19论文数:101被引数:1,173
S
Sini Penttilä
H 指数:19论文数:70被引数:1,652
M
Mari Auranen
H 指数:32论文数:126被引数:4,219
B
Bjarne Udd
H 指数:41论文数:193被引数:5,640