Search | Virtual Health Library

1.

FLT3L governs the development of partially overlapping hematopoietic lineages in humans and mice.

Momenilandi, Mana; Lévy, Romain; Sobrino, Steicy; Li, Jingwei; Lagresle-Peyrou, Chantal; Esmaeilzadeh, Hossein; Fayand, Antoine; Le Floc'h, Corentin; Guérin, Antoine; Mina, Erika Della; Shearer, Debra; Delmonte, Ottavia M; Yatim, Ahmad; Mulder, Kevin; Mancini, Mathieu; Rinchai, Darawan; Denis, Adeline; Neehus, Anna-Lena; Balogh, Karla; Brendle, Sarah; Rokni-Zadeh, Hassan; Changi-Ashtiani, Majid; Seeleuthner, Yoann; Deswarte, Caroline; Bessot, Boris; Cremades, Cassandre; Materna, Marie; Cederholm, Axel; Ogishi, Masato; Philippot, Quentin; Beganovic, Omer; Ackermann, Mania; Wuyts, Margareta; Khan, Taushif; Fouéré, Sébastien; Herms, Florian; Chanal, Johan; Palterer, Boaz; Bruneau, Julie; Molina, Thierry J; Leclerc-Mercier, Stéphanie; Prétet, Jean-Luc; Youssefian, Leila; Vahidnezhad, Hassan; Parvaneh, Nima; Claeys, Kristl G; Schrijvers, Rik; Luka, Marine; Pérot, Philippe; Fourgeaud, Jacques.

Cell ; 187(11): 2817-2837.e31, 2024 May 23.

Article in English | MEDLINE | ID: mdl-38701783

2.

Lessons for future clinical trials in adults with Becker muscular dystrophy: Disease progression detected by muscle magnetic resonance imaging, clinical and patient-reported outcome measures.

De Wel, Bram; Iterbeke, Louise; Huysmans, Lotte; Peeters, Ronald; Goosens, Veerle; Dubuisson, Nicolas; van den Bergh, Peter; Van Parijs, Vinciane; Remiche, Gauthier; De Waele, Liesbeth; Maes, Frederik; Dupont, Patrick; Claeys, Kristl G.

Eur J Neurol ; : e16282, 2024 Mar 20.

Article in English | MEDLINE | ID: mdl-38504654

3.

A study concept of expeditious clinical enrollment for genetic modifier studies in Charcot-Marie-Tooth neuropathy 1A.

Xu, Isaac R L; Danzi, Matt C; Ruiz, Ariel; Raposo, Jacquelyn; De Jesus, Yeisha Arcia; Reilly, Mary M; Cortese, Andrea; Shy, Michael E; Scherer, Steven S; Herrmann, David N; Fridman, Vera; Baets, Jonathan; Saporta, Mario; Seyedsadjadi, Reza; Stojkovic, Tanya; Claeys, Kristl G; Patel, Pooja; Feely, Shawna; Rebelo, Adriana P; Dohrn, Maike F; Züchner, Stephan.

J Peripher Nerv Syst ; 2024 Apr 05.

Article in English | MEDLINE | ID: mdl-38581130

4.

Anoctamin-5 related muscle disease: clinical and genetic findings in a large European cohort.

de Bruyn, Alexander; Montagnese, Federica; Holm-Yildiz, Sonja; Scharff Poulsen, Nanna; Stojkovic, Tanya; Behin, Anthony; Palmio, Johanna; Jokela, Manu; De Bleecker, Jan L; de Visser, Marianne; van der Kooi, Anneke J; Ten Dam, Leroy; Domínguez González, Cristina; Maggi, Lorenzo; Gallone, Annamaria; Kostera-Pruszczyk, Anna; Macias, Anna; Lusakowska, Anna; Nedkova, Velina; Olive, Montse; Álvarez-Velasco, Rodrigo; Wanschitz, Julia; Paradas, Carmen; Mavillard, Fabiola; Querin, Giorgia; Fernández-Eulate, Gorka; Quinlivan, Ros; Walter, Maggie C; Depuydt, Christophe E; Udd, Bjarne; Vissing, John; Schoser, Benedikt; Claeys, Kristl G.

Brain ; 146(9): 3800-3815, 2023 09 01.

Article in English | MEDLINE | ID: mdl-36913258

5.

The emerging spectrum of fetal acetylcholine receptor antibody-related disorders (FARAD).

Allen, Nicholas M; O'Rahelly, Mark; Eymard, Bruno; Chouchane, Mondher; Hahn, Andreas; Kearns, Gerry; Kim, Dae-Seong; Byun, Shin Yun; Nguyen, Cam-Tu Emilie; Schara-Schmidt, Ulrike; Kölbel, Heike; Marina, Adela Della; Schneider-Gold, Christiane; Roefke, Kathryn; Thieme, Andrea; Van den Bergh, Peter; Avalos, Gloria; Álvarez-Velasco, Rodrigo; Natera-de Benito, Daniel; Cheng, Man Hin Mark; Chan, Wing Ki; Wan, Hoi Shan; Thomas, Mary Ann; Borch, Lauren; Lauzon, Julie; Kornblum, Cornelia; Reimann, Jens; Mueller, Andreas; Kuntzer, Thierry; Norwood, Fiona; Ramdas, Sithara; Jacobson, Leslie W; Jie, Xiaobo; Fernandez-Garcia, Miguel A; Wraige, Elizabeth; Lim, Ming; Lin, Jean Pierre; Claeys, Kristl G; Aktas, Selma; Oskoui, Maryam; Hacohen, Yael; Masud, Ameneh; Leite, M Isabel; Palace, Jacqueline; De Vivo, Darryl; Vincent, Angela; Jungbluth, Heinz.

Brain ; 146(10): 4233-4246, 2023 10 03.

Article in English | MEDLINE | ID: mdl-37186601

6.

Mass spectrometry-based identification of new anti-Ly and known antisynthetase autoantibodies.

Vulsteke, Jean-Baptiste; Derua, Rita; Dubucquoi, Sylvain; Coutant, Frédéric; Sanges, Sebastien; Goncalves, David; Wuyts, Greet; De Haes, Petra; Blockmans, Daniel; Wuyts, Wim A; Claeys, Kristl G; De Langhe, Ellen; Fabien, Nicole; Bossuyt, Xavier.

Ann Rheum Dis ; 82(4): 546-555, 2023 04.

Article in English | MEDLINE | ID: mdl-36572507

7.

Identification of new telomere- and telomerase-associated autoantigens in systemic sclerosis.

Vulsteke, Jean-Baptiste; Smith, Vanessa; Bonroy, Carolien; Derua, Rita; Blockmans, Daniel; De Haes, Petra; Vanderschueren, Steven; Lenaerts, Jan L; Claeys, Kristl G; Wuyts, Wim A; Verschueren, Patrick; Vanhandsaeme, Gilles; Piette, Yves; De Langhe, Ellen; Bossuyt, Xavier.

J Autoimmun ; 135: 102988, 2023 02.

Article in English | MEDLINE | ID: mdl-36634459

8.

Validation of an Artificial Intelligence driven framework to automatically detect red flag symptoms in screening for rare diseases in electronic health records: hereditary transthyretin amyloidosis polyneuropathy as a key example.

Hens, Dries; Wyers, Lore; Claeys, Kristl G.

J Peripher Nerv Syst ; 28(1): 79-85, 2023 03.

Article in English | MEDLINE | ID: mdl-36468607

9.

Genotype-phenotype correlations in valosin-containing protein disease: a retrospective muticentre study.

Schiava, Marianela; Ikenaga, Chiseko; Villar-Quiles, Rocío Nur; Caballero-Ávila, Marta; Topf, Ana; Nishino, Ichizo; Kimonis, Virginia; Udd, Bjarne; Schoser, Benedikt; Zanoteli, Edmar; Souza, Paulo Victor Sgobbi; Tasca, Giorgio; Lloyd, Thomas; Lopez-de Munain, Adolfo; Paradas, Carmen; Pegoraro, Elena; Nadaj-Pakleza, Aleksandra; De Bleecker, Jan; Badrising, Umesh; Alonso-Jiménez, Alicia; Kostera-Pruszczyk, Anna; Miralles, Francesc; Shin, Jin-Hong; Bevilacqua, Jorge Alfredo; Olivé, Montse; Vorgerd, Matthias; Kley, Rudi; Brady, Stefen; Williams, Timothy; Domínguez-González, Cristina; Papadimas, George K; Warman-Chardon, Jodi; Claeys, Kristl G; de Visser, Marianne; Muelas, Nuria; LaForet, Pascal; Malfatti, Edoardo; Alfano, Lindsay N; Nair, Sruthi S; Manousakis, Georgios; Kushlaf, Hani A; Harms, Matthew B; Nance, Christopher; Ramos-Fransi, Alba; Rodolico, Carmelo; Hewamadduma, Channa; Cetin, Hakan; García-García, Jorge; Pál, Endre; Farrugia, Maria Elena.

J Neurol Neurosurg Psychiatry ; 2022 07 27.

Article in English | MEDLINE | ID: mdl-35896379

10.

RNF170 mutation causes autosomal dominant sensory ataxia with variable pyramidal involvement.

Van Daele, Sien H; Moisse, Matthieu; Race, Valérie; Van Eesbeeck, Amélie; Keldermans, Liesbeth; Vermeer, Sascha; Van Esch, Hilde; Claeys, Kristl G; Van Damme, Philip.

Eur J Neurol ; 29(1): 345-349, 2022 01.

Article in English | MEDLINE | ID: mdl-34469621

11.

Expanding the clinical and genetic spectrum of FDXR deficiency by functional validation of variants of uncertain significance.

Stenton, Sarah L; Piekutowska-Abramczuk, Dorota; Kulterer, Lea; Kopajtich, Robert; Claeys, Kristl G; Ciara, Elzbieta; Eisen, Johannes; Ploski, Rafal; Pronicka, Ewa; Malczyk, Katarzyna; Wagner, Matias; Wortmann, Saskia B; Prokisch, Holger.

Hum Mutat ; 42(3): 310-319, 2021 03.

Article in English | MEDLINE | ID: mdl-33348459

12.

Neuromuscular hyperexcitability syndromes.

De Wel, Bram; Claeys, Kristl G.

Curr Opin Neurol ; 34(5): 714-720, 2021 10 01.

Article in English | MEDLINE | ID: mdl-34914668

13.

Neuropathy of the phrenic nerve associated with antiganglioside antibodies.

Serrien, Anouk; Sanders, Katrien; Claeys, Kristl G; Poesen, Koen; Testelmans, Dries; Van Damme, Philip.

Eur J Neurol ; 28(6): 2138-2141, 2021 06.

Article in English | MEDLINE | ID: mdl-33686700

14.

New genotype-phenotype correlations in a large European cohort of patients with sarcoglycanopathy.

Alonso-Pérez, Jorge; González-Quereda, Lidia; Bello, Luca; Guglieri, Michela; Straub, Volker; Gallano, Pia; Semplicini, Claudio; Pegoraro, Elena; Zangaro, Vittoria; Nascimento, Andrés; Ortez, Carlos; Comi, Giacomo Pietro; Dam, Leroy Ten; De Visser, Marianne; van der Kooi, A J; Garrido, Cristina; Santos, Manuela; Schara, Ulrike; Gangfuß, Andrea; Løkken, Nicoline; Storgaard, Jesper Helbo; Vissing, John; Schoser, Benedikt; Dekomien, Gabriele; Udd, Bjarne; Palmio, Johanna; D'Amico, Adele; Politano, Luisa; Nigro, Vincenzo; Bruno, Claudio; Panicucci, Chiara; Sarkozy, Anna; Abdel-Mannan, Omar; Alonso-Jimenez, Alicia; Claeys, Kristl G; Gomez-Andrés, David; Munell, Francina; Costa-Comellas, Laura; Haberlová, Jana; Rohlenová, Marie; Elke, De Vos; De Bleecker, Jan L; Dominguez-González, Cristina; Tasca, Giorgio; Weiss, Claudia; Deconinck, Nicolas; Fernández-Torrón, Roberto; López de Munain, Adolfo; Camacho-Salas, Ana; Melegh, Béla.

Brain ; 143(9): 2696-2708, 2020 09 01.

Article in English | MEDLINE | ID: mdl-32875335

15.

Recurrent TTN metatranscript-only c.39974-11T>G splice variant associated with autosomal recessive arthrogryposis multiplex congenita and myopathy.

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.

Hum Mutat ; 41(2): 403-411, 2020 02.

Article in English | MEDLINE | ID: mdl-31660661

16.

Congenital myopathies: an update.

Claeys, Kristl G.

Dev Med Child Neurol ; 62(3): 297-302, 2020 03.

Article in English | MEDLINE | ID: mdl-31578728

17.

Maternal copy-number variations in the DMD gene as secondary findings in noninvasive prenatal screening.

Brison, Nathalie; Storms, Jazz; Villela, Darine; Claeys, Kristl G; Dehaspe, Luc; de Ravel, Thomy; De Waele, Liesbeth; Goemans, Nathalie; Legius, Eric; Peeters, Hilde; Van Esch, Hilde; Race, Valerie; Robert Vermeesch, Joris; Devriendt, Koenraad; Van Den Bogaert, Kris.

Genet Med ; 21(12): 2774-2780, 2019 12.

Article in English | MEDLINE | ID: mdl-31197268

18.

Impairments in contractility and cytoskeletal organisation cause nuclear defects in nemaline myopathy.

Ross, Jacob A; Levy, Yotam; Ripolone, Michela; Kolb, Justin S; Turmaine, Mark; Holt, Mark; Lindqvist, Johan; Claeys, Kristl G; Weis, Joachim; Monforte, Mauro; Tasca, Giorgio; Moggio, Maurizio; Figeac, Nicolas; Zammit, Peter S; Jungbluth, Heinz; Fiorillo, Chiara; Vissing, John; Witting, Nanna; Granzier, Henk; Zanoteli, Edmar; Hardeman, Edna C; Wallgren-Pettersson, Carina; Ochala, Julien.

Acta Neuropathol ; 138(3): 477-495, 2019 09.

Article in English | MEDLINE | ID: mdl-31218456

19.

Inflammatory markers in cerebrospinal fluid: independent prognostic biomarkers in amyotrophic lateral sclerosis?

Gille, Benjamin; De Schaepdryver, Maxim; Dedeene, Lieselot; Goossens, Janne; Claeys, Kristl G; Van Den Bosch, Ludo; Tournoy, Jos; Van Damme, Philip; Poesen, Koen.

J Neurol Neurosurg Psychiatry ; 90(12): 1338-1346, 2019 12.

Article in English | MEDLINE | ID: mdl-31175169

20.

Regional variation of Guillain-Barré syndrome.

Doets, Alex Y; Verboon, Christine; van den Berg, Bianca; Harbo, Thomas; Cornblath, David R; Willison, Hugh J; Islam, Zhahirul; Attarian, Shahram; Barroso, Fabio A; Bateman, Kathleen; Benedetti, Luana; van den Bergh, Peter; Casasnovas, Carlos; Cavaletti, Guido; Chavada, Govindsinh; Claeys, Kristl G; Dardiotis, Efthimios; Davidson, Amy; van Doorn, Pieter A; Feasby, Tom E; Galassi, Giuliana; Gorson, Kenneth C; Hartung, Hans-Peter; Hsieh, Sung-Tsang; Hughes, Richard A C; Illa, Isabel; Islam, Badrul; Kusunoki, Susumu; Kuwabara, Satoshi; Lehmann, Helmar C; Miller, James A L; Mohammad, Quazi Deen; Monges, Soledad; Nobile Orazio, Eduardo; Pardo, Julio; Pereon, Yann; Rinaldi, Simon; Querol, Luis; Reddel, Stephen W; Reisin, Ricardo C; Shahrizaila, Nortina; Sindrup, Soren H; Waqar, Waheed; Jacobs, Bart C.

Brain ; 141(10): 2866-2877, 2018 10 01.

Article in English | MEDLINE | ID: mdl-30247567

Virtual Health Library

United States - Mexico Border

Your selection (0)

Export format:

Export: