Search Results

MR Spectroscopy Findings in Lafora Disease

Authors: Altindag, Ebru; Kara, Batuhan; Baykan, Betul; Terzibasioglu, Ege; Sencer, Serra; Onat, Levent; Sı, Mustafa

Source: Journal of Neuroimaging, Volume 19, Number 4, October 2009 , pp. 359-365(7)

Publisher: Blackwell Publishing

The autosomal recessively inherited progressive myoclonus epilepsies and their genes

Authors: Ramachandran, Nivetha; Girard, Jean-Marie; Turnbull, Julie; Minassian, Berge A.

Source: Epilepsia, Volume 50, Supplement 5, May 2009 , pp. 29-36(8)

Publisher: Blackwell Publishing

Oxidative stress in developmental brain disorders

Author: Hayashi, Masaharu

Source: Neuropathology, Volume 29, Number 1, February 2009 , pp. 1-8(8)

Publisher: Blackwell Publishing

The maestro don Gonzalo Rodríguez-Lafora

Authors: Nanduri, Anish S.; Kaushal, Neal; Clusmann, Hans; Binder, Devin K.

Source: Epilepsia, Volume 49, Number 6, June 2008 , pp. 943-947(5)

Publisher: Blackwell Publishing

Lafora disease proteins malin and laforin are recruited to aggresomes in response to proteasomal impairment

Authors: Mittal, Shuchi; Dubey, Deepti; Yamakawa, Kazuhiro; Ganesh, Subramaniam

Source: Human Molecular Genetics, Volume 16, Number 7, 1 April 2007 , pp. 753-762(10)

Publisher: Oxford University Press

Founder Effect with Variable Age at Onset in Arab Families with Lafora Disease and EPM2A Mutation

Authors: Gomez-Abad, Cristina; Afawi, Zaid; Korczyn, Amos D.; Misk, Adel; Shalev, Stavit A.; Spiegel, Ronen; Lerman-Sagie, Tally; Lev, Dorit; Kron, Katherine L.; Gómez-Garre, Pilar; Serratosa, Jose M.; Berkovic, Samuel F.

Source: Epilepsia, Volume 48, Number 5, May 2007 , pp. 1011-1014(4)

Publisher: Blackwell Publishing

MRI Volumetry and Proton MR Spectroscopy of the Brain in Lafora Disease

Authors: Villanueva, Vicente; Alvarez-Linera, Juan; Gómez-Garre, Pilar; Gutiérrez, Jorge; Serratosa, José M.

Source: Epilepsia, Volume 47, Number 4, April 2006 , pp. 788-792(5)

Publisher: Blackwell Publishing

Clinical and Genetic Findings in 26 Italian Patients with Lafora Disease

Authors: Franceschetti, Silvana; Gambardella, Antonio; Canafoglia, Laura; Striano, Pasquale; Lohi, Hannes; Gennaro, Elena; Ianzano, Leonarda; Veggiotti, Pierangelo; Sofia, Vito; Biondi, Roberto; Striano, Salvatore; Gellera, Cinzia; Annesi, Grazia; Madia, Francesca; Civitelli, Donata; Rocca, Francesca E.; Quattrone, Aldo; Avanzini, Giuliano; Minassian, Berge; Zara, Federico

Source: Epilepsia, Volume 47, Number 3, March 2006 , pp. 640-643(4)

Publisher: Blackwell Publishing

Late-onset and Slow-progressing Lafora Disease in Four Siblings with EPM2B Mutation

Authors: Baykan, Betul; Striano, Pasquale; Gianotti, Stefania; Bebek, Nerses; Gennaro, Elena; Gurses, Candan; Zara, Federico

Source: Epilepsia, Volume 46, Number 10, October 2005 , pp. 1695-1697(3)

Publisher: Blackwell Publishing

Novel glycogen synthase kinase 3 and ubiquitination pathways in progressive myoclonus epilepsy

Authors: Lohi, Hannes; Ianzano, Leonarda; Zhao, Xiao-Chu; Chan, Elayne M.; Turnbull, Julie; Scherer, Stephen W.; Ackerley, Cameron A.; Minassian, Berge A.

Source: Human Molecular Genetics, Volume 14, Number 18, 15 September 2005 , pp. 2727-2736(10)

Publisher: Oxford University Press

Laforin preferentially binds the neurotoxic starch-like polyglucosans, which form in its absence in progressive myoclonus epilepsy

Authors: Chan, Elayne M.; Ackerley, Cameron A.; Lohi, Hannes; Ianzano, Leonarda; Cortez, Miguel A.; Shannon, Patrick; Scherer, Stephen W.; Minassian, Berge A.

Source: Human Molecular Genetics, Volume 13, Number 11, 1 June 2004 , pp. 1117-1129(13)

Publisher: Oxford University Press

Progressive myoclonic epilepsy

Authors: Mary Zupanc; Benjamin Legros

Source: The Cerebellum, Volume 3, Number 3, September 2004 , pp. 156-171(16)

Publisher: Informa Healthcare

A Second Gene for Lafora Disease

Author: Wallace R.

Source: Epilepsy Currents, Volume 4, Number 2, March 2004 , pp. 82-83(2)

Publisher: Blackwell Publishing

The carbohydrate-binding domain of Lafora disease protein targets Lafora polyglucosan bodies

Authors: Ganesh S.; Tsurutani N.; Suzuki T.; Hoshii Y.; Ishihara T.; Delgado-Escueta A.V.; Yamakawa K.

Source: Biochemical and Biophysical Research Communications, Volume 313, Number 4, 23 January 2004 , pp. 1101-1109(9)

Publisher: Elsevier

The Spanish School of Neurology and the First American Cases of Alzheimer's Disease

Authors: García-Albea E.; Trullen J.M.P.

Source: Journal of the History of the Neurosciences, Volume 12, Number 4, December 01, 2003 , pp. 437-445(9)

Publisher: Taylor and Francis Ltd

Bioptically demonstrated Lafora disease without EPM2A mutation: a clinical and neurophysiological study of two sisters

Authors: Boccella P.; Striano P.; Zara F.; Barbieri F.; Sarappa C.; Vacca G.; de Falco F.A.; Striano S.

Source: Clinical Neurology and Neurosurgery, Volume 106, Number 1, December 2003 , pp. 56-60(5)

Publisher: Elsevier

Laforin, the dual-phosphatase responsible for Lafora disease, interacts with R5 (PTG), a regulatory subunit of protein phosphatase-1 that enhances glycogen accumulation

Authors: Fernández-Sánchez M.E.; Criado-García O.; García-Fojeda B.; Medraño-Fernández I.; Gomez-Garre P.; Sanz P.; Serratosa J.M.; Rodríguez de Córdoba S.

Source: Human Molecular Genetics, Volume 12, Number 23, 1 December 2003 , pp. 3161-3171(11)

Publisher: Oxford University Press

Epilepsy evaluation by electroencephalography and magnetoencephalography in Lafora-body disease: a case report

Authors: A Verrotti; B Salusti; D Trotta; L Madonna; F Chiarelli; V Pizzella

Source: Acta Paediatrica, Volume 92, Number 10, October 2003 , pp. 1218-1222(5)

Publisher: Informa Healthcare

Article
The Lafora disease gene product laforin interacts with HIRIP5, a phylogenetically conserved protein containing a NifU-like domain

Authors: Ganesh S.; Tsurutani N.; Suzuki T.; Ueda K.; Agarwala K.L.; Osada H.; Delgado-Escueta A.V.; Yamakawa K.

Source: Human Molecular Genetics, Volume 12, Number 18, 15 September 2003 , pp. 2359-2368(10)

Publisher: Oxford University Press

Movement-activated myoclonus in genetically defined progressive myoclonic epilepsies: EEG-EMG relationship estimated using autoregressive models

Authors: Panzica F.; Canafoglia L.; Franceschetti S.; Binelli S.; Ciano C.; Visani E.; Avanzini G.

Source: Clinical Neurophysiology, Volume 114, Number 6, June 2003 , pp. 1041-1052(12)

Publisher: Elsevier