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PTG protein depletion rescues malin-deficient Lafora disease in mouse

Annals of neurology, 2014-03, Vol.75 (3), p.442-446

2014

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Inhibiting glycogen synthesis prevents lafora disease in a mouse model

Annals of neurology, 2013-08, Vol.74 (2), p.297-300

2013

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Abnormal Metabolism of Glycogen Phosphate as a Cause for Lafora Disease

The Journal of biological chemistry, 2008-12, Vol.283 (49), p.33816-33825

2008

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PTG depletion removes Lafora bodies and rescues the fatal epilepsy of Lafora disease

PLoS genetics, 2011-04, Vol.7 (4), p.e1002037-e1002037

2011

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Laforin is a glycogen phosphatase, deficiency of which leads to elevated phosphorylation of glycogen in vivo

Proceedings of the National Academy of Sciences - PNAS, 2007-12, Vol.104 (49), p.19262-19266

2007

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Glycogen hyperphosphorylation underlies lafora body formation

Annals of neurology, 2010-12, Vol.68 (6), p.925-933

2010

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Mutations in CLN7/MFSD8 are a common cause of variant late-infantile neuronal ceroid lipofuscinosis

Brain (London, England : 1878), 2009-03, Vol.132 (3), p.810-819

2009

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Increased Laforin and Laforin Binding to Glycogen Underlie Lafora Body Formation in Malin-deficient Lafora Disease

The Journal of biological chemistry, 2012-07, Vol.287 (30), p.25650-25659

2012

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Expanded repeat in canine epilepsy

Science (American Association for the Advancement of Science), 2005-01, Vol.307 (5706), p.81-81

2005

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Mutation of the CLN6 Gene in Teenage-Onset Progressive Myoclonus Epilepsy

Pediatric neurology, 2012-09, Vol.47 (3), p.205-208

2012

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Laforin Negatively Regulates Cell Cycle Progression through Glycogen Synthase Kinase 3β-Dependent Mechanisms

Molecular and Cellular Biology, 2008-12, Vol.28 (23), p.7236-7244

2008

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Lafora disease

Epileptic disorders, 2016-09, Vol.18 (s2), p.S38-S62

2016

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Unverricht-Lundborg Progressive Myoclonus Epilepsy in Oman

Pediatric neurology, 2008-04, Vol.38 (4), p.252-255

2008

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Compassion through tele-empathy: technology-mediated symptom transference

Future healthcare journal, 2017-10, Vol.4 (3), p.219-220

2017

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The autosomal recessively inherited progressive myoclonus epilepsies and their genes

Epilepsia (Copenhagen), 2009-05, Vol.50 (s5), p.29-36

2009

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Antisense Oligonucleotide Therapy for Lafora Disease (S53.005)

Neurology, 2018-04, Vol.90 (15_supplement)

2018

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Hyperphosphorylation of Glucosyl C6 Carbons and Altered Structure of Glycogen in the Neurodegenerative Epilepsy Lafora Disease

Cell metabolism, 2013-05, Vol.17 (5), p.756-767

2013

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Early-onset Lafora body disease

Brain (London, England : 1878), 2012-09, Vol.135 (Pt 9), p.2684-2698

2012

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Deep intronic GBE1 mutation in manifesting heterozygous patients with adult polyglucosan body disease

JAMA neurology, 2015-04, Vol.72 (4), p.441

2015

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Mild Lafora disease: Clinical, neurophysiologic, and genetic findings

Epilepsia (Copenhagen), 2014-12, Vol.55 (12), p.e129-e133

2014

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CLN6 Mutations Cause Teenage-Onset Progressive Myoclonus Epilepsy (P2.183)

Neurology, 2014-04, Vol.82 (10_supplement)

2014

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

Human molecular genetics, 2005-09, Vol.14 (18), p.2727-2736

2005

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Progressive myoclonus epilepsy

Handbook of Clinical Neurology, 2013, Vol.113, p.1731-1736

2013

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Deficiency of a Glycogen Synthase-associated Protein, Epm2aip1, Causes Decreased Glycogen Synthesis and Hepatic Insulin Resistance

The Journal of biological chemistry, 2013-11, Vol.288 (48), p.34627-34637

2013

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An exon trap with proper poly-A site in the GBE1 is the common missing cause in Adult Polyglucosan Body Disease (S42.006)

Neurology, 2015-04, Vol.84 (14_supplement)

2015

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PTG protein depletion rescues malin-deficient Lafora disease in mouse

Inhibiting glycogen synthesis prevents lafora disease in a mouse model

Abnormal Metabolism of Glycogen Phosphate as a Cause for Lafora Disease

PTG depletion removes Lafora bodies and rescues the fatal epilepsy of Lafora disease

Laforin is a glycogen phosphatase, deficiency of which leads to elevated phosphorylation of glycogen in vivo

Glycogen hyperphosphorylation underlies lafora body formation

Mutations in CLN7/MFSD8 are a common cause of variant late-infantile neuronal ceroid lipofuscinosis

Increased Laforin and Laforin Binding to Glycogen Underlie Lafora Body Formation in Malin-deficient Lafora Disease

Expanded repeat in canine epilepsy

Mutation of the CLN6 Gene in Teenage-Onset Progressive Myoclonus Epilepsy

Laforin Negatively Regulates Cell Cycle Progression through Glycogen Synthase Kinase 3β-Dependent Mechanisms

Lafora disease

Unverricht-Lundborg Progressive Myoclonus Epilepsy in Oman

Compassion through tele-empathy: technology-mediated symptom transference

The autosomal recessively inherited progressive myoclonus epilepsies and their genes

Antisense Oligonucleotide Therapy for Lafora Disease (S53.005)

Hyperphosphorylation of Glucosyl C6 Carbons and Altered Structure of Glycogen in the Neurodegenerative Epilepsy Lafora Disease

Early-onset Lafora body disease

Deep intronic GBE1 mutation in manifesting heterozygous patients with adult polyglucosan body disease

Mild Lafora disease: Clinical, neurophysiologic, and genetic findings

CLN6 Mutations Cause Teenage-Onset Progressive Myoclonus Epilepsy (P2.183)

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

Progressive myoclonus epilepsy

Deficiency of a Glycogen Synthase-associated Protein, Epm2aip1, Causes Decreased Glycogen Synthesis and Hepatic Insulin Resistance

An exon trap with proper poly-A site in the GBE1 is the common missing cause in Adult Polyglucosan Body Disease (S42.006)

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