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Links from MedGen

Items: 1 to 20 of 500

1.
M Sharma, J C Mueller, A Zimprich, P Lichtner, A Hofer, P Leitner, S Maass, D Berg, A Dürr, V Bonifati, G De Michele, B Oostra, A Brice, N W Wood, B Muller‐Myhsok, T Gasser
J Med Genet. 2006 Jul; 43(7): 557–562. Published online 2006 Jan 27. doi: 10.1136/jmg.2005.039149
PMCID:
PMC2593029
2.
Anita L. DeStefano, Mark F. Lew, Lawrence I. Golbe, Margery H. Mark, Alice M. Lazzarini, Mark Guttman, Erwin Montgomery, Cheryl H. Waters, Carlos Singer, Ray L. Watts, Lillian J. Currie, G. Frederick Wooten, Nancy E. Maher, Jemma B. Wilk, Kristin M. Sullivan, Karen M. Slater, Marie H. Saint-Hilaire, Robert G. Feldman, Oksana Suchowersky, Anne-Louise Lafontaine, Nancy Labelle, John H. Growdon, Peter Vieregge, Peter P. Pramstaller, Christine Klein, Jean P. Hubble, Carson R. Reider, Mark Stacy, Marcy E. MacDonald, James F. Gusella, Richard H. Myers
Am J Hum Genet. 2002 May; 70(5): 1089–1095. Published online 2002 Mar 27. doi: 10.1086/339814
PMCID:
PMC447587
3.
Xiaoping Huang, Beverly P Wu, Diana Nguyen, Yi-Ting Liu, Melika Marani, Jürgen Hench, Paule Bénit, Vera Kozjak-Pavlovic, Pierre Rustin, Stephan Frank, Derek P Narendra
Hum Mol Genet. 2018 Nov 15; 27(22): 3881–3900. Published online 2018 Jul 31. doi: 10.1093/hmg/ddy270
PMCID:
PMC6216204
4.
Robert L. Nussbaum
J Parkinsons Dis. 2017; 7(Suppl 1): S43–S49. Published online 2017 Mar 6. doi: 10.3233/JPD-179003
PMCID:
PMC5345646
5.
Xinglong Wang, Michael H. Yan, Hisashi Fujioka, Jun Liu, Amy Wilson-Delfosse, Shu G. Chen, George Perry, Gemma Casadesus, Xiongwei Zhu
Hum Mol Genet. 2012 May 1; 21(9): 1931–1944. Published online 2012 Jan 6. doi: 10.1093/hmg/dds003
PMCID:
PMC3315202
6.
Jeanne C Latourelle, Nathan Pankratz, Alexandra Dumitriu, Jemma B Wilk, Stefano Goldwurm, Gianni Pezzoli, Claudio B Mariani, Anita L DeStefano, Cheryl Halter, James F Gusella, William C Nichols, Richard H Myers, Tatiana Foroud, the PSG -PROGENI and GenePD Investigators, Coordinators and Molecular Genetic Laboratories
BMC Med Genet. 2009; 10: 98. Published online 2009 Sep 22. doi: 10.1186/1471-2350-10-98
PMCID:
PMC2758866
7.
Ozlem Goker-Alpan, Grisel Lopez, Joseph Vithayathil, Joie Davis, Mark Hallett, Ellen Sidransky
Arch Neurol.
Published in final edited form as: Arch Neurol. 2008 Oct; 65(10): 1353–1357. doi: 10.1001/archneur.65.10.1353
PMCID:
PMC2629407
8.
Jennifer E. Tobin, Jing Cui, Jemma B. Wilk, Jeanne C. Latourelle, Jason M. Laramie, Ann C. McKee, Mark Guttman, Samer Karamohamed, Anita L. DeStefano, Richard H. Myers
Brain Res.
Published in final edited form as: Brain Res. 2007 Mar 30; 1139: 42–47. Published online 2007 Jan 8. doi: 10.1016/j.brainres.2007.01.001
PMCID:
PMC1868471
9.
M Martinez, A Brice, J Vaughan, A Zimprich, M Breteler, G Meco, A Filla, M Farrer, C Betard, J Hardy, G De Michele, V Bonifati, B Oostra, T Gasser, N Wood, A Durr, F the
J Med Genet. 2004 Dec; 41(12): 900–907. doi: 10.1136/jmg.2004.022632
PMCID:
PMC1735631
10.
Karin Wirdefeldt, Catherine E Burgess, Lisa Westerberg, Haydeh Payami, Martin Schalling
BMC Neurol. 2003; 3: 6. Published online 2003 Jul 26. doi: 10.1186/1471-2377-3-6
PMCID:
PMC184377
11.
Yan Meng, Susumu Katsuma, Takaaki Daimon, Yutaka Banno, Keiro Uchino, Hideki Sezutsu, Toshiki Tamura, Kazuei Mita, Toru Shimada
J Biol Chem. 2009 Apr 24; 284(17): 11698–11705. doi: 10.1074/jbc.M900485200
PMCID:
PMC2670173
12.
Graeme Mattison, Oliver Canfell, Doug Forrester, Chelsea Dobbins, Daniel Smith, Juha Töyräs, Clair Sullivan
J Med Internet Res. 2022 Jul; 24(7): e36690. Published online 2022 Jul 1. doi: 10.2196/36690
PMCID:
PMC9288104
13.
Adamantios Mamais, Jillian H. Kluss, Luis Bonet-Ponce, Natalie Landeck, Rebekah G. Langston, Nathan Smith, Alexandra Beilina, Alice Kaganovich, Manik C. Ghosh, Laura Pellegrini, Ravindran Kumaran, Ioannis Papazoglou, George R. Heaton, Rina Bandopadhyay, Nunziata Maio, Changyoun Kim, Matthew J. LaVoie, David C. Gershlick, Mark R. Cookson
PLoS Biol. 2021 Dec; 19(12): e3001480. Published online 2021 Dec 16. doi: 10.1371/journal.pbio.3001480
PMCID:
PMC8675653
14.
Roger Pamphlett, Stephen Kum Jew, Philip A. Doble, David P. Bishop
PLoS One. 2020; 15(4): e0231870. Published online 2020 Apr 22. doi: 10.1371/journal.pone.0231870
PMCID:
PMC7176133
15.
Mark Kaddumukasa, Leviticus Mugenyi, Martin N. Kaddumukasa, Edward Ddumba, Michael Devereaux, Anthony Furlan, Martha Sajatovic, Elly Katabira
BMC Neurol. 2016; 16: 227. Published online 2016 Nov 17. doi: 10.1186/s12883-016-0732-y
PMCID:
PMC5114749
16.
Mika H. Martikainen, Markku Päivärinta, Marja Hietala, Valtteri Kaasinen
Neurol Genet. 2015 Dec; 1(4): e27. Published online 2015 Oct 15. doi: 10.1212/NXG.0000000000000027
PMCID:
PMC4811387
17.
Nicholas E. Johnson
Neurol Genet. 2015 Dec; 1(4): e37. Published online 2015 Dec 24. doi: 10.1212/NXG.0000000000000037
PMCID:
PMC4811378
18.
Emmanouela Leandrou, Ioanna Chalatsa, Dimitrios Anagnostou, Christina Machalia, Maria Semitekolou, Vicky Filippa, Manousos Makridakis, Antonia Vlahou, Ema Anastasiadou, Kostas Vekrellis, Evangelia Emmanouilidou
Transl Neurodegener. 2024; 13: 11. Published online 2024 Feb 21. doi: 10.1186/s40035-024-00401-4
PMCID:
PMC10880263
19.
Maria Georgoula, Panagiotis Ntavaroukas, Anastasia Androutsopoulou, Georgia Xiromerisiou, Fani Kalala, Matthaios Speletas, Eftihia Asprodini, Anna Vasilaki, Stamatia Papoutsopoulou
Int J Mol Sci. 2024 Feb; 25(3): 1791. Published online 2024 Feb 1. doi: 10.3390/ijms25031791
PMCID:
PMC10855941
20.
Chelsea X. Alvarado, Mary B. Makarious, Cory A. Weller, Dan Vitale, Mathew J. Koretsky, Sara Bandres-Ciga, Hirotaka Iwaki, Kristin Levine, Andrew Singleton, Faraz Faghri, Mike A. Nalls, Hampton L. Leonard
Am J Hum Genet. 2024 Jan 4; 111(1): 150–164. Published online 2024 Jan 4. doi: 10.1016/j.ajhg.2023.12.006
PMCID:
PMC10806756

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