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Results: 1 to 20 of 26

1.
Mark Walterfang, Yin-Hsiu Chien, Jackie Imrie, Derren Rushton, Danielle Schubiger, Marc C Patterson
Orphanet J Rare Dis. 2012; 7: 76. Published online 2012 October 6. doi: 10.1186/1750-1172-7-76
PMCID:
PMC3552828
2.
Bénédicte Héron, Vassili Valayannopoulos, Julien Baruteau, Brigitte Chabrol, Hélène Ogier, Philippe Latour, Dries Dobbelaere, Didier Eyer, François Labarthe, Hélène Maurey, Jean-Marie Cuisset, Thierry Billette de Villemeur, Frédéric Sedel, Marie T Vanier
Orphanet J Rare Dis. 2012; 7: 36. Published online 2012 June 7. doi: 10.1186/1750-1172-7-36
PMCID:
PMC3465012
3.
Veronika M. Stein, Alexandra Crooks, Wenge Ding, Maria Prociuk, Patricia O’Donnell, Caroline Bryan, Tracey Sikora, Jasper Dingemanse, Marie T. Vanier, Steven U. Walkley, Charles H. Vite
J Neuropathol Exp Neurol.
Published in final edited form as: J Neuropathol Exp Neurol. 2012 May; 71(5): 434–448. doi: 10.1097/NEN.0b013e31825414a6
PMCID:
PMC3352323
4.
Kyle B. Peake, Jean E. Vance
J Biol Chem. 2012 March 16; 287(12): 9290–9298. Published online 2012 January 25. doi: 10.1074/jbc.M111.326405
PMCID:
PMC3308731
5.
Forbes D. Porter, David E. Scherrer, Michael H. Lanier, S. Joshua Langmade, Vasumathi Molugu, Sarah E. Gale, Dana Olzeski, Rohini Sidhu, Dennis J. Dietzen, Rao Fu, Christopher A. Wassif, Nicole M. Yanjanin, Steven P. Marso, John House, Charles Vite, Jean E. Schaffer, Daniel S. Ory
Sci Transl Med.
Published in final edited form as: Sci Transl Med. 2010 November 3; 2(56): 56ra81. doi: 10.1126/scitranslmed.3001417
PMCID:
PMC3170139
6.
Xuntian Jiang, Rohini Sidhu, Forbes D. Porter, Nicole M. Yanjanin, Anneliese O. Speak, Danielle Taylor te Vruchte, Frances M. Platt, Hideji Fujiwara, David E. Scherrer, Jessie Zhang, Dennis J. Dietzen, Jean E. Schaffer, Daniel S. Ory
J Lipid Res. 2011 July; 52(7): 1435–1445. doi: 10.1194/jlr.D015735
PMCID:
PMC3122908
7.
Nina H. Pipalia, Casey C. Cosner, Amy Huang, Anamitra Chatterjee, Pauline Bourbon, Nathan Farley, Paul Helquist, Olaf Wiest, Frederick R. Maxfield
Proc Natl Acad Sci U S A. 2011 April 5; 108(14): 5620–5625. Published online 2011 March 21. doi: 10.1073/pnas.1014890108
PMCID:
PMC3078401
8.
Charina M. Ramirez, Benny Liu, Anna M. Taylor, Joyce J. Repa, Dennis K. Burns, Arthur G. Weinberg, Stephen D. Turley, John M. Dietschy
Pediatr Res.
Published in final edited form as: Pediatr Res. 2010 October; 68(4): 309–315. doi: 10.1203/PDR.0b013e3181ee4dd2
PMCID:
PMC3065173
9.
Sarah Ward, Patricia O’Donnell, Steven Fernandez, Charles H. Vite
Pediatr Res.
Published in final edited form as: Pediatr Res. 2010 July; 68(1): 52–56. doi: 10.1203/PDR.0b013e3181df4623
PMCID:
PMC2913583
10.
Marie T Vanier
Orphanet J Rare Dis. 2010; 5: 16. Published online 2010 June 3. doi: 10.1186/1750-1172-5-16
PMCID:
PMC2902432
11.
Anton I. Rosenbaum, Guangtao Zhang, J. David Warren, Frederick R. Maxfield
Proc Natl Acad Sci U S A. 2010 March 23; 107(12): 5477–5482. Published online 2010 March 8. doi: 10.1073/pnas.0914309107
PMCID:
PMC2851804
12.
James E Wraith, Jackie Imrie
Ther Clin Risk Manag. 2009; 5: 877–887. Published online 2009 November 18.
PMCID:
PMC2781062
13.
Lina Abi-Mosleh, Rodney E. Infante, Arun Radhakrishnan, Joseph L. Goldstein, Michael S. Brown
Proc Natl Acad Sci U S A. 2009 November 17; 106(46): 19316–19321. Published online 2009 November 2. doi: 10.1073/pnas.0910916106
PMCID:
PMC2780767
14.
Cristin D. Davidson, Nafeeza F. Ali, Matthew C. Micsenyi, Gloria Stephney, Sophie Renault, Kostantin Dobrenis, Daniel S. Ory, Marie T. Vanier, Steven U. Walkley
PLoS One. 2009; 4(9): e6951. Published online 2009 September 11. doi: 10.1371/journal.pone.0006951
PMCID:
PMC2736622
15.
G Tedeschi, S Bonavita, N Barton, A Bertolino, J Frank, N Patronas, J Alger, R Schiffmann
J Neurol Neurosurg Psychiatry. 1998 July; 65(1): 72–79.
PMCID:
PMC2170174
16.
A. GRAU, T. BRANDT, M. WEISBROD, R. NIETHAMMER, M. FORSTING, M. CANTZ, M. VANIER, K. HARZER
J Neurol Neurosurg Psychiatry. 1997 October; 63(4): 552–553.
PMCID:
PMC2169752
17.
K Josephs, M W Van Gerpen, J A Van Gerpen
J Neurol Neurosurg Psychiatry. 2003 April; 74(4): 528–529. doi: 10.1136/jnnp.74.4.528
PMCID:
PMC1738356
18.
W L Greer, D C Riddell, T L Gillan, G S Girouard, S M Sparrow, D M Byers, M J Dobson, P E Neumann
Am J Hum Genet. 1998 July; 63(1): 52–54. doi: 10.1086/301931
PMCID:
PMC1377252
19.
Gilles Millat, Christophe Marçais, Mohammad A. Rafi, Toshiyuki Yamamoto, Jill A. Morris, Peter G. Pentchev, Kousaku Ohno, David A. Wenger, Marie T. Vanier
Am J Hum Genet. 1999 November; 65(5): 1321–1329. Published online 1999 October 8. doi: 10.1086/302626
PMCID:
PMC1288284
20.
W. L. Greer, M. J. Dobson, G. S. Girouard, D. M. Byers, D. C. Riddell, P. E. Neumann
Am J Hum Genet. 1999 November; 65(5): 1252–1260. Published online 1999 October 1.
PMCID:
PMC1288277

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