PMC Links for Books (Select 1498482) - PMC

Gavin Charlesworth, Plamena R. Angelova, Fernando Bartolomé-Robledo, Mina Ryten, Daniah Trabzuni, Maria Stamelou, Andrey Y. Abramov, Kailash P. Bhatia, Nicholas W. Wood

Am J Hum Genet. 2015 Apr 2; 96(4): 657–665. Published online 2015 Mar 19. doi: 10.1016/j.ajhg.2015.02.007

PMCID:: PMC4385177

Abstract Article PDF–659K

Select item 42471246.

Neuropathological features of genetically confirmed DYT1 dystonia: investigating disease-specific inclusions

Reema Paudel, Aoife Kiely, Abi Li, Tammaryn Lashley, Rina Bandopadhyay, John Hardy, Hyder A Jinnah, Kailash Bhatia, Henry Houlden, Janice L Holton

Acta Neuropathol Commun. 2014; 2: 159. Published online 2014 Nov 18. doi: 10.1186/s40478-014-0159-x

PMCID:: PMC4247124

Abstract Article PDF–259K

Select item 38389757.

Emerging Common Molecular Pathways for Primary Dystonia

Mark S LeDoux, William T Dauer, Thomas T Warner

Mov Disord. Author manuscript; available in PMC 2014 Jun 15.

Published in final edited form as: Mov Disord. 2013 Jun 15; 28(7): 10.1002/mds.25547. doi: 10.1002/mds.25547

PMCID:: PMC3838975

Abstract Article PDF–658K

Select item 37298808.

Phenomenology and classification of dystonia: a consensus update

Alberto Albanese, Kailash Bhatia, Susan B. Bressman, Mahlon R. DeLong, Stanley Fahn, Victor S.C. Fung, Mark Hallett, Joseph Jankovic, H.A. Jinnah, Christine Klein, Anthony E. Lang, Jonathan W. Mink, Jan K. Teller

Mov Disord. Author manuscript; available in PMC 2014 Jun 15.

Published in final edited form as: Mov Disord. 2013 Jun 15; 28(7): 863–873. Published online 2013 May 6. doi: 10.1002/mds.25475

PMCID:: PMC3729880

Abstract Article PDF–72K

Select item 36836019.

Torsin mediates primary envelopment of large ribonucleoprotein granules at the nuclear envelope

Vahbiz Jokhi, James Ashley, Akiko Noma, Naoto Ito, Noriko Wakabayashi-Ito, Melissa J. Moore, Vivian Budnik

Cell Rep. Author manuscript; available in PMC 2014 Apr 25.

Published in final edited form as: Cell Rep. 2013 Apr 25; 3(4): 988–995. Published online 2013 Apr 11. doi: 10.1016/j.celrep.2013.03.015

PMCID:: PMC3683601

Abstract Article PDF–5.2M

Select item 358078610.

Invertebrate Models of Dystonia

Kim A Caldwell, Yilong Shu, Nathan B Roberts, Guy A Caldwell, Janis M O’Donnell

Curr Neuropharmacol. 2013 Jan; 11(1): 16–29. Published online 2013 Jan. doi: 10.2174/157015913804999504

PMCID:: PMC3580786

Abstract Article PDF–344K

Select item 353920111.

tTorsinA binds the KASH domain of nesprins and participates in linkage between nuclear envelope and cytoskeleton

Flavia C. Nery, Juan Zeng, Brian P. Niland, Jeffrey Hewett, Jonathan Farley, Daniel Irimia, Yuqing Li, Gerhard Wiche, Arnoud Sonnenberg, Xandra O. Breakefield

J Cell Sci. Author manuscript; available in PMC 2013 Jan 8.

Published in final edited form as: J Cell Sci. 2008 Oct 15; 121(Pt 20): 3476–3486. Published online 2008 Sep 30. doi: 10.1242/jcs.029454

PMCID:: PMC3539201

Abstract Article PDF–6.3M

Select item 353062012.

Mutations in GNAL cause primary torsion dystonia

Tania Fuchs, Rachel Saunders-Pullman, Ikuo Masuho, Marta San Luciano, Deborah Raymond, Stewart Factor, Anthony E. Lang, Tsao-Wei Liang, Richard M. Trosch, Sierra White, Edmond Ainehsazan, Denis Herve, Nutan Sharma, Michelle E. Ehrlich, Kirill A. Martemyanov, Susan B. Bressman, Laurie J. Ozelius

Nat Genet. Author manuscript; available in PMC 2013 Jul 1.

Published in final edited form as: Nat Genet. 2013 Jan; 45(1): 88–92. Published online 2012 Dec 9. doi: 10.1038/ng.2496

PMCID:: PMC3530620

Abstract Article PDF–1.1M

Select item 352990913.

TorsinA participates in endoplasmic reticulum-associated degradation

Flávia C. Nery, Ioanna A. Armata, Jonathan E. Farley, Jin A. Cho, Uzma Yaqub, Pan Chen, Cintia Carla da Hora, Qiuyan Wang, Mitsuo Tagaya, Christine Klein, Bakhos Tannous, Kim A. Caldwell, Guy A. Caldwell, Wayne I. Lencer, Yihong Ye, Xandra O. Breakefield

Nat Commun. Author manuscript; available in PMC 2012 Dec 25.

Published in final edited form as: Nat Commun. 2011; 2: 393. Published online 2011 Jul 12. doi: 10.1038/ncomms1383

PMCID:: PMC3529909

Abstract Article PDF–1.3M

Select item 331031114.

Fixing the broken system of genetic locus symbols: Parkinson disease and dystonia as examples

Connie Marras, Katja Lohmann, Anthony Lang, Christine Klein

Neurology. 2012 Mar 27; 78(13): 1016–1024. doi: 10.1212/WNL.0b013e31824d58ab

PMCID:: PMC3310311

Abstract Article PDF–350K

Select item 313552515.

Successful twin pregnancy in a patient with parkin-associated autosomal recessive juvenile parkinsonism

Takehiro Serikawa, Takayoshi Shimohata, Mami Akashi, Akio Yokoseki, Miwa Tsuchiya, Arika Hasegawa, Kazufumi Haino, Ryoko Koike, Koichi Takakuwa, Keiko Tanaka, Kenichi Tanaka, Masatoyo Nishizawa

BMC Neurol. 2011; 11: 72. Published online 2011 Jun 17. doi: 10.1186/1471-2377-11-72

PMCID:: PMC3135525

Abstract Article PDF–177K

Select item 307373916.

Genetic and clinical features of primary torsion dystonia

Laurie J. Ozelius, Susan B. Bressman

Neurobiol Dis. Author manuscript; available in PMC 2012 May 1.

Published in final edited form as: Neurobiol Dis. 2011 May; 42(2): 127–135. Published online 2010 Dec 17. doi: 10.1016/j.nbd.2010.12.012

PMCID:: PMC3073739

Abstract Article PDF–89K

Select item 289158317.

Functional evidence implicating a novel TOR1A mutation in idiopathic, late-onset focal dystonia

Nicole Calakos, Viren D Patel, Melissa Gottron, Gaofeng Wang, Khanh-Nhat Tran-Viet, Danielle Brewington, John L. Beyer, David C. Steffens, Ranga R. Krishnan, Stephan Zuchner

J Med Genet. Author manuscript; available in PMC 2011 Sep 1.

Published in final edited form as: J Med Genet. 2010 Sep; 47(9): 646–650. Published online 2009 Dec 2. doi: 10.1136/jmg.2009.072082