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Items: 1 to 20 of 500

1.
J Kalkman, M Schillings, S P van der Werf, G Padberg, M Zwarts, B G M van Engelen, G Bleijenberg
J Neurol Neurosurg Psychiatry. 2005 Oct; 76(10): 1406–1409. doi: 10.1136/jnnp.2004.050005
PMCID:
PMC1739364
2.
P Raeymaekers, V Timmerman, P De Jonghe, L Swerts, J Gheuens, J J Martin, L Muylle, G De Winter, A Vandenberghe, C Van Broeckhoven
Am J Hum Genet. 1989 Dec; 45(6): 953–958.
PMCID:
PMC1683471
3.
H R Middleton-Price, A E Harding, C Monteiro, J Berciano, S Malcolm
Am J Hum Genet. 1990 Jan; 46(1): 92–94.
PMCID:
PMC1683526
4.
A Brice, N Ravisé, G Stevanin, M Gugenheim, P Bouche, C Penet, Y Agid
J Med Genet. 1992 Nov; 29(11): 807–812. doi: 10.1136/jmg.29.11.807
PMCID:
PMC1016177
5.
P Raeymaekers, V Timmerman, E Nelis, W Van Hul, P De Jonghe, J J Martin, C Van Broeckhoven
J Med Genet. 1992 Jan; 29(1): 5–11. doi: 10.1136/jmg.29.1.5
PMCID:
PMC1015812
6.
V Scaioli, D Pareyson, G Avanzini, A Sghirlanzoni
J Neurol Neurosurg Psychiatry. 1992 Nov; 55(11): 1027–1031. doi: 10.1136/jnnp.55.11.1027
PMCID:
PMC1015287
7.
T E Feasby, A F Hahn, C F Bolton, W F Brown, W J Koopman
J Neurol Neurosurg Psychiatry. 1992 Oct; 55(10): 895–897. doi: 10.1136/jnnp.55.10.895
PMCID:
PMC1015184
8.
S Sander, R Ouvrier, J McLeod, G Nicholson, J Pollard
J Neurol Neurosurg Psychiatry. 2000 Apr; 68(4): 483–488. doi: 10.1136/jnnp.68.4.483
PMCID:
PMC1736856
9.
Reza Maroofian, Payam Sarraf, Thomas J O’Brien, Mona Kamel, Arman Cakar, Nour Elkhateeb, Tracy Lau, Siddaramappa Jagdish Patil, Christopher J Record, Alejandro Horga, Miriam Essid, Laila Selim, Hanene Benrhouma, Thouraya Ben Younes, Giovanni Zifarelli, Alistair T Pagnamenta, Peter Bauer, Mukhran Khundadze, Andrea Mirecki, Sara Mahmoud Kamel, Mohamed A Elmonem, Ehsan Ghayoor Karimiani, Yalda Jamshidi, Amaka C Offiah, Alexander M Rossor, Ilhem Ben Youssef-Turki, Christian A Hübner, Pinki Munot, Mary M Reilly, André E X Brown, Sara Nagy, Henry Houlden
Brain. 2024 Jul; 147(7): 2334–2343. Published online 2024 Mar 25. doi: 10.1093/brain/awae091
PMCID:
PMC11224604
10.
Xiaoqin Yuan, Shanshan Zhang, Huifang Shang, Yufeng Tang
BMC Med Genomics. 2024; 17: 169. Published online 2024 Jun 24. doi: 10.1186/s12920-024-01940-5
PMCID:
PMC11194961
11.
Camila Armirola-Ricaurte, Noortje Zonnekein, Georgios Koutsis, Silvia Amor-Barris, Ana Lara Pelayo-Negro, Derek Atkinson, Stephanie Efthymiou, Valentina Turchetti, Argyris Dinopoulos, Antonio Garcia, Mert Karakaya, German Moris, Ayşe Ipek Polat, Uluç Yiş, Carmen Espinos, Liedewei Van de Vondel, Els De Vriendt, Georgia Karadima, Brunhilde Wirth, Michael Hanna, Henry Houlden, Jose Berciano, Albena Jordanova
Genet Med. 2024 Jun; 26(6): 101117. doi: 10.1016/j.gim.2024.101117
PMCID:
PMC11180951
12.
Tomas Ferreira, Kiran Polavarapu, Catarina Olimpio, Ida Paramonov, Hanns Lochmüller, Rita Horvath
J Neurol. 2024; 271(6): 3546–3553. Published online 2024 Mar 28. doi: 10.1007/s00415-024-12319-y
PMCID:
PMC11136726
13.
Jui-Yu Yeh, Hua-Chuan Chao, Cheng-Li Hong, Yu-Chien Hung, Fei-Yang Tzou, Cheng-Tsung Hsiao, Jeng-Lin Li, Wen-Jie Chen, Cheng-Ta Chou, Yu-Shuen Tsai, Yi-Chu Liao, Yu-Chun Lin, Suewei Lin, Shu-Yi Huang, Marina Kennerson, Yi-Chung Lee, Chih-Chiang Chan
EMBO Mol Med. 2024 May; 16(5): 1091–1114. Published online 2024 Apr 8. doi: 10.1038/s44321-024-00062-w
PMCID:
PMC11099080
14.
Adela Della Marina, Andreas Hentschel, Artur Czech, Ulrike Schara-Schmidt, Corinna Preusse, Andreas Laner, Angela Abicht, Tobias Ruck, Joachim Weis, Catherine Choueiri, Hanns Lochmüller, Heike Kölbel, Andreas Roos
J Neuromuscul Dis. 2024; 11(3): 625–645. Prepublished online 2024 Apr 3. Published online 2024 Apr 30. doi: 10.3233/JND-230230
PMCID:
PMC11091643
15.
Joohyun Park, Bianca R. Flores, Katalin Scherer, Hanna Kuepper, Mari Rossi, Katrin Rupprich, Maren Rautenberg, Natalie Deininger, Annette Weichselbaum, Alexander Grimm, Marc Sturm, Ute Grasshoff, Eric Delpire, Tobias B. Haack
J Med Genet.
Published in final edited form as: J Med Genet. 2020 Apr; 57(4): 283–288. Published online 2019 Aug 22. doi: 10.1136/jmedgenet-2019-106273
PMCID:
PMC11074718
16.
Gaku Okumura, Katsuya Nakamura, Rie Seyama, Yuri Uchiyama, Jun Shinagawa, Shinya Nishio, Junji Ikeda, Shohei Takayama, Minori Kodaira, Tomoki Kosho, Yutaka Takumi, Naomichi Matsumoto, Yoshiki Sekijima
Intern Med. 2024 Apr 1; 63(7): 1005–1008. Published online 2023 Aug 9. doi: 10.2169/internalmedicine.1935-23
PMCID:
PMC11045389
17.
Abdoulaye Yalcouyé, Seybou H. Diallo, Lassana Cissé, Mamadou Karembé, Salimata Diallo, Thomas Coulibaly, Salimata Diarra, Dramane Coulibaly, Mohamed Keita, Cheick O. Guinto, Kenneth H. Fischbeck, Ambroise Wonkam, Guida Landouré, The H3Africa Consortium
J Peripher Nerv Syst.
Published in final edited form as: J Peripher Nerv Syst. 2022 Jun; 27(2): 113–119. Published online 2022 Apr 5. doi: 10.1111/jns.12486
PMCID:
PMC11000073
18.
Andrea Gangfuß, Philipp Rating, Tomas Ferreira, Andreas Hentschel, Adela Della Marina, Heike Kölbel, Albert Sickmann, Angela Abicht, Florian Kraft, Tobias Ruck, Johann Böhm, Anne Schänzer, Ulrike Schara-Schmidt, Teresa M. Neuhann, Rita Horvath, Andreas Roos
J Neuromuscul Dis. 2024; 11(2): 485–491. Prepublished online 2024 Jan 8. Published online 2024 Mar 5. doi: 10.3233/JND-230181
PMCID:
PMC10977349
19.
Stefano Tozza, Giovanni Palumbo, Daniele Severi, Aniello Iovino, Emanuele Spina, Francesco Aruta, Emanuele Cassano, Rosa Iodice, Raffaele Dubbioso, Lucia Ruggiero, Maria Nolano, Lucio Santoro, Fiore Manganelli
Neurol Sci. 2024; 45(4): 1685–1689. Published online 2023 Oct 23. doi: 10.1007/s10072-023-07140-w
PMCID:
PMC10942904
20.
Doris Krauter, Daniela Stausberg, Timon J Hartmann, Stefan Volkmann, Theresa Kungl, David A Rasche, Gesine Saher, Robert Fledrich, Ruth M Stassart, Klaus-Armin Nave, Sandra Goebbels, David Ewers, Michael W Sereda
EMBO Mol Med. 2024 Mar; 16(3): 616–640. Published online 2024 Feb 21. doi: 10.1038/s44321-023-00019-5
PMCID:
PMC10940316

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