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Scientific reports, 2024-02, Vol.14 (1), p.4306-4306
2024
Link zum Volltext
Acta neuropathologica, 2021-08, Vol.142 (2), p.375-393
- 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, Päivi
- Donner, Kati
- Comi, Giacomo Pietro
- Nigro, Vincenzo
- Hackman, Peter
- Udd, Bjarne
2021
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Communications biology, 2024-04, Vol.7 (1), p.438-438
2024
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Annals of clinical and translational neurology, 2022-10, Vol.9 (10), p.1660-1667
2022
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Human molecular genetics, 2023-10, Vol.32 (21), p.3029-3039
2023
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Journal of neurology, 2022-08, Vol.269 (8), p.4161-4173
2022
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Human mutation, 2022-12, Vol.43 (12), p.1745-1756
2022
Link zum Volltext
The Journal of clinical investigation, 2018-03, Vol.128 (3), p.1164-1177
- Lee, YouJin
- Jonson, Per Harald
- Sarparanta, Jaakko
- Palmio, Johanna
- Sarkar, Mohona
- Vihola, Anna
- Evilä, Anni
- Suominen, Tiina
- Penttilä, Sini
- Savarese, Marco
- Johari, Mridul
- Minot, Marie-Christine
- Hilton-Jones, David
- Maddison, Paul
- Chinnery, Patrick
- Reimann, Jens
- Kornblum, Cornelia
- Kraya, Torsten
- Zierz, Stephan
- Sue, Carolyn
- Goebel, Hans
- Azfer, Asim
- Ralston, Stuart H
- Hackman, Peter
- Bucelli, Robert C
- Taylor, J Paul
- Weihl, Conrad C
- Udd, Bjarne
2018
Link zum Volltext
European journal of human genetics : EJHG, 2023-04, Vol.31 (4), p.383-386
2023
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European journal of human genetics : EJHG, 2021-09, Vol.29 (9), p.1325-1331
- Zurek, Birte
- Ellwanger, Kornelia
- Vissers, Lisenka E L M
- Schüle, Rebecca
- Synofzik, Matthis
- Töpf, Ana
- de Voer, Richarda M
- Laurie, Steven
- Matalonga, Leslie
- Gilissen, Christian
- Ossowski, Stephan
- 't Hoen, Peter A C
- Vitobello, Antonio
- Schulze-Hentrich, Julia M
- Riess, Olaf
- Brunner, Han G
- Brookes, Anthony J
- Rath, Ana
- Bonne, Gisèle
- Gumus, Gulcin
- Verloes, Alain
- Hoogerbrugge, Nicoline
- Evangelista, Teresinha
- Harmuth, Tina
- Swertz, Morris
- Spalding, Dylan
- Hoischen, Alexander
- Beltran, Sergi
- Graessner, Holm
2021
Link zum Volltext
European journal of human genetics : EJHG, 2021-09, Vol.29 (9), p.1337-1347
- Matalonga, Leslie
- Hernández-Ferrer, Carles
- Piscia, Davide
- Schüle, Rebecca
- Synofzik, Matthis
- Töpf, Ana
- Vissers, Lisenka E L M
- de Voer, Richarda
- Tonda, Raul
- Laurie, Steven
- Fernandez-Callejo, Marcos
- Picó, Daniel
- Garcia-Linares, Carles
- Papakonstantinou, Anastasios
- Corvó, Alberto
- Joshi, Ricky
- Diez, Hector
- Gut, Ivo
- Hoischen, Alexander
- Graessner, Holm
- Beltran, Sergi
2021
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European journal of human genetics : EJHG, 2024-01, Vol.32 (1), p.3-5
- Alimohamed, Mohamed Zahir
- Mnika, Khuthala
- Adadey, Samuel Mawuli
- Barbosa-Matos, Rita
- Avram, Elena
- Nevondwe, Patracia
- Akurugu, Wisdom A
- Mupfururirwa, Wilson
- de Miranda Cerqueira, Juliana Xavier
- Dore, Rhys
- Săbău, Ileana-Delia
- Kalantari, Silvia
- da Silva, Ana Raquel Gouveia Freitas
- Anzaku, Abbas Abel
- Matimba, Alice
- Chauke, Paballo Abel
- Johari, Mridul
- Nembaware, Victoria
- Mroczek, Magdalena
2024
Link zum Volltext
Neuromuscular disorders : NMD, 2024-04, Vol.37, p.36-51
- Lilleker, James B.
- Naddaf, Elie
- Saris, Christiaan G.J.
- Schmidt, Jens
- de Visser, Marianne
- Weihl, Conrad C.
- Alexandersson, Helene
- Alfano, Lindsay
- Allenbach, Yves
- Badrising, Umesh
- Benveniste, Olivier
- Bhai, Salman
- De Bleecker, Jan
- Breeveld, Marie Christine
- Chinoy, Hector
- Diederichsen, Louise
- Dimachkie, Mazen
- Greenberg, Steven
- Johari, Mridul
- Lilleker, James
- Lindgren, Ulrika
- Lloyd, Tom
- Machado, Pedro
- Mozaffar, Tahseen
- Mischke, Roland
- Needham, Merrilee
- Nishino, Ichizo
- Oldfors, Anders
- Saris, Christiaan
- Stenzel, Werner
- Tasca, Giorgio
- Weihl, Conrad
2024
Link zum Volltext
Neurology, 2019-04, Vol.92 (14), p.e1600
2019
Link zum Volltext
Bi-allelic loss-of-function OBSCN variants predispose individuals to severe recurrent rhabdomyolysis
- 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
- Ibrahim Aydin, Halil
- Ceylaner, Serdar
- 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
- McCombe, Pamela
- Laing, Nigel G
- Phillips, Liza
- de Lonlay, Pascale
- Ravenscroft, Gianina
2022
Link zum Volltext
Journal of medical genetics, 2024-03, Vol.61 (4), p.369
- Perrin, Aurélien
- Métay, Corinne
- Savarese, Marco
- Ben Yaou, Rabah
- Demidov, German
- Nelson, Isabelle
- Solé, Guilhem
- Péréon, Yann
- Bertini, Enrico Silvio
- Fattori, Fabiana
- D'Amico, Adele
- Ricci, Federica
- Ginsberg, Mira
- Seferian, Andreea
- Boespflug-Tanguy, Odile
- Servais, Laurent
- Chapon, Françoise
- Lagrange, Emmeline
- Gaudon, Karen
- Bloch, Adrien
- Ghanem, Robin
- Guyant-Maréchal, Lucie
- Johari, Mridul
- Van Goethem, Charles
- Fardeau, Michel
- Morales, Raul Juntas
- Genetti, Casie A
- Marttila, Minttu
- Koenig, Michel
- Beggs, Alan H
- Udd, Bjarne
- Bonne, Gisèle
- Cossée, Mireille
2024
Link zum Volltext
Genetics in medicine, 2020-12, Vol.22 (12), p.2029-2040
- Savarese, Marco
- Vihola, Anna
- Oates, Emily C
- Barresi, Rita
- Fiorillo, Chiara
- Tasca, Giorgio
- Jokela, Manu
- Sarkozy, Anna
- Luo, Sushan
- Díaz-Manera, Jordi
- Ehrstedt, Christoffer
- Rojas-García, Ricardo
- Sáenz, Amets
- Muelas, Nuria
- Lonardo, Fortunato
- Fodstad, Heidi
- Qureshi, Talha
- Johari, Mridul
- Välipakka, Salla
- Luque, Helena
- Petiot, Philippe
- de Munain, Adolfo López
- Pane, Marika
- Mercuri, Eugenio
- Torella, Annalaura
- Nigro, Vincenzo
- Astrea, Guja
- Santorelli, Filippo Maria
- Bruno, Claudio
- Kuntzer, Thierry
- Illa, Isabel
- Vílchez, Juan J
- Julien, Cedric
- Ferreiro, Ana
- Malandrini, Alessandro
- Zhao, Chong-Bo
- Casar-Borota, Olivera
- Davis, Mark
- Muntoni, Francesco
- Hackman, Peter
- Udd, Bjarne
2020
Link zum Volltext
Human mutation, 2020-02, Vol.41 (2), p.403-411
- Bryen, Samantha J.
- Ewans, Lisa J.
- Pinner, Jason
- MacLennan, Suzanna C.
- Donkervoort, Sandra
- Castro, Diana
- Töpf, Ana
- O'Grady, Gina
- Cummings, Beryl
- Chao, Katherine R.
- Weisburd, Ben
- Francioli, Laurent
- Faiz, Fathimath
- Bournazos, Adam M.
- Hu, Ying
- Grosmann, Carla
- Malicki, Denise M.
- Doyle, Helen
- Witting, Nanna
- Vissing, John
- Claeys, Kristl G.
- Urankar, Kathryn
- Beleza‐Meireles, Ana
- Baptista, Julia
- Ellard, Sian
- Savarese, Marco
- Johari, Mridul
- Vihola, Anna
- Udd, Bjarne
- Majumdar, Anirban
- Straub, Volker
- Bönnemann, Carsten G.
- MacArthur, Daniel G.
- Davis, Mark R.
- Cooper, Sandra T.
2020
Link zum Volltext
Journal of neurology, 2019-10, Vol.266 (10), p.2524-2534
2019
Link zum Volltext
Acta myologica, 2020-12, Vol.39 (4), p.245-265
2020
Link zum Volltext
Journal of neuromuscular diseases, 2020-01, Vol.7 (3), p.203-216
2020
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European journal of human genetics : EJHG, 2014-04, Vol.22 (4), p.522-527
2014
Link zum Volltext
European journal of human genetics : EJHG, 2021-09, Vol.29 (9), p.1348-1353
2021
Link zum Volltext
Genetics in medicine, 2023-04, Vol.25 (4), p.100018-100018, Article 100018
- Banka, Siddharth
- Ciolfi, Andrea
- Dallapiccola, Bruno
- Gilissen, Christian
- López-Martín, Estrella
- Ryba, Lukas
- Tartaglia, Marco
- Thevenon, Julien
- Tran Mau-Them, Frédéric
- Votypka, Pavel
- Faivre, Laurence
- Jackson, Adam
- Kleefstra, Tjitske
- Santen, Gijs W.E.
- Verloes, Alain
- Gao, Fei
- Johari, Mridul
- Morsy, Heba
- Robinson, Peter
- Zurek, Birte
- Kegele, Josua
- Scheffer, Hans
- van de Warrenburg, Bart
- Steehouwer, Marloes
- Maddi, Vatsalya
- Riaz, Umar
- Dizjikan, Farid Yavari
- Straub, Volker
- Papakonstantinou, Anastasios
- Corvo, Alberto
- Fernandez-Callejo, Marcos
- Gumus, Gulcin
- Lagorce, David
- Durr, Alexandra
- Davoine, Claire-Sophie
- Guillot-Noel, Léna
- Evangelista, Teresinha
- Metay, Corinne
- Eymard, Bruno
- Thomas, Coline
- Spalding, Dylan
- Magrinelli, Francesca
- Sisodiya, Sanjay M.
- Zaharieva, Irina
- de Jonghe, Peter
- Van de Vondel, Liedewei
- De Ridder, Willem
- Mutarelli, Margherita
- Varavallo, Alessandra
- Banfi, Sandro
- Piluso, Giulio
- Rossi, Rachele
- Matos, Ana Rita
- Gullo, Irene
- Fernandes, Susana
- Zonneveld-Huijssoon, Eveline
- van Gijn, Marielle
- Mignot, Cyril
- Lacombe, Didier
- Holinski-Feder, Elke
- Cilio, Maria-Roberta
- Depondt, Chantal
- Lederer, Damien
- Mary, Sandrine
- Pérez-Dueñas, Belén
- Masó, Laura Batlle
- Hemelsoet, Dimitri
- Depienne, Christel
- Iacomino, Michele
- Scala, Marcello
- Bourbouli, Mara
- Radio, Francesca Clementina
- De la Paz, Manuel Posada
- Alonso García de la Rosa, F. Javier
- Guerrini, Renzo
- Chinnery, Patrick F.
- Schon, Katherine
- Münchau, Alexander
- Pauly, Martje
- Toutain, Annick
- Molin, Arnaud
- Jouret, Béatrice
- Laudier, Béatrice
- Bonniaud, Bertille
- Paul, Carle
- Schaefer, Élise
- Colin, Estelle
- Prieur, Fabienne
- Alessandri, Jean-Luc
- Martinovic, Jelena
- Lambert, Laëtitia
- Bournez, Marie
- Cordier-Alex, Marie-Pierre
- Fradin, Mélanie
- Hanna, Nadine
- Chassaing, Nicolas
- Naudion, Sophie
- Cusin, Véronica
2023
Link zum Volltext
Journal of neuromuscular diseases, 2023-01, Vol.10 (5), p.977-984
2023
Link zum Volltext
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