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Brain Dopamine–Serotonin Vesicular Transport Disease and Its Treatment

The New England journal of medicine, 2013-02, Vol.368 (6), p.543-550

2013

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Neuronal ceroid lipofuscinoses

Epileptic disorders, 2016-09, Vol.18 (s2), p.S73-S88

2016

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Sexually Divergent Mortality and Partial Phenotypic Rescue After Gene Therapy in a Mouse Model of Dravet Syndrome

Human gene therapy, 2020-03, Vol.31 (5-6), p.339-351

2020

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Pathogenesis of Lafora Disease: Transition of Soluble Glycogen to Insoluble Polyglucosan

International journal of molecular sciences, 2017-08, Vol.18 (8), p.1743

2017

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Diagnostic yield of genetic testing in epileptic encephalopathy in childhood

Epilepsia (Copenhagen), 2015-05, Vol.56 (5), p.707-716

2015

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Amylopectinosis of the fatal epilepsy Lafora disease resists autophagic glycogen catabolism

EMBO molecular medicine, 2024-05, Vol.16 (5), p.1047-1050

2024

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Lafora disease in miniature Wirehaired Dachshunds

PloS one, 2017-08, Vol.12 (8), p.e0182024-e0182024

2017

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Ppp1r3d deficiency preferentially inhibits neuronal and cardiac Lafora body formation in a mouse model of the fatal epilepsy Lafora disease

Journal of neurochemistry, 2021-06, Vol.157 (6), p.1897-1910

2021

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Global characterization of copy number variants in epilepsy patients from whole genome sequencing

PLoS genetics, 2018-04, Vol.14 (4), p.e1007285-e1007285

2018

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Epileptic Encephalopathy Caused by Mutations in the Guanine Nucleotide Exchange Factor DENND5A

American journal of human genetics, 2016-12, Vol.99 (6), p.1359-1367

2016

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From Genetic Testing to Precision Medicine in Epilepsy

Neurotherapeutics, 2020-04, Vol.17 (2), p.609-615

2020

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Laforin targets malin to glycogen in Lafora progressive myoclonus epilepsy

Disease models & mechanisms, 2023-01, Vol.16 (1)

2023

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Skeletal Muscle Glycogen Chain Length Correlates with Insolubility in Mouse Models of Polyglucosan-Associated Neurodegenerative Diseases

Cell reports (Cambridge), 2019-04, Vol.27 (5), p.1334-1344.e6

2019

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The Novel Neuronal Ceroid Lipofuscinosis Gene MFSD8 Encodes a Putative Lysosomal Transporter

American journal of human genetics, 2007-07, Vol.81 (1), p.136-146

2007

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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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Transition from glycogen to starch metabolism in Archaeplastida

Trends in plant science, 2014-01, Vol.19 (1), p.18-28

2014

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Alleviation of a polyglucosan storage disorder by enhancement of autophagic glycogen catabolism

EMBO molecular medicine, 2021-10, Vol.13 (10), p.e14554-n/a

2021

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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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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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Structural basis of glycogen branching enzyme deficiency and pharmacologic rescue by rational peptide design

Human molecular genetics, 2015-10, Vol.24 (20), p.5667-5676

2015

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The history of progressive myoclonus epilepsies

Epileptic disorders, 2016-09, Vol.18 (s2), p.S3-S10

2016

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Abnormal glycogen chain length pattern, not hyperphosphorylation, is critical in Lafora disease

EMBO molecular medicine, 2017-07, Vol.9 (7), p.906-917

2017

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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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Retinal Phenotyping of a Murine Model of Lafora Disease

Genes, 2023-03, Vol.14 (4), p.854

2023

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Brain Dopamine–Serotonin Vesicular Transport Disease and Its Treatment

Neuronal ceroid lipofuscinoses

Sexually Divergent Mortality and Partial Phenotypic Rescue After Gene Therapy in a Mouse Model of Dravet Syndrome

Pathogenesis of Lafora Disease: Transition of Soluble Glycogen to Insoluble Polyglucosan

Diagnostic yield of genetic testing in epileptic encephalopathy in childhood

Amylopectinosis of the fatal epilepsy Lafora disease resists autophagic glycogen catabolism

Lafora disease in miniature Wirehaired Dachshunds

Ppp1r3d deficiency preferentially inhibits neuronal and cardiac Lafora body formation in a mouse model of the fatal epilepsy Lafora disease

Global characterization of copy number variants in epilepsy patients from whole genome sequencing

Epileptic Encephalopathy Caused by Mutations in the Guanine Nucleotide Exchange Factor DENND5A

From Genetic Testing to Precision Medicine in Epilepsy

Laforin targets malin to glycogen in Lafora progressive myoclonus epilepsy

Skeletal Muscle Glycogen Chain Length Correlates with Insolubility in Mouse Models of Polyglucosan-Associated Neurodegenerative Diseases

The Novel Neuronal Ceroid Lipofuscinosis Gene MFSD8 Encodes a Putative Lysosomal Transporter

PTG protein depletion rescues malin-deficient Lafora disease in mouse

Inhibiting glycogen synthesis prevents lafora disease in a mouse model

Transition from glycogen to starch metabolism in Archaeplastida

Alleviation of a polyglucosan storage disorder by enhancement of autophagic glycogen catabolism

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

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

Structural basis of glycogen branching enzyme deficiency and pharmacologic rescue by rational peptide design

The history of progressive myoclonus epilepsies

Abnormal glycogen chain length pattern, not hyperphosphorylation, is critical in Lafora disease

Abnormal Metabolism of Glycogen Phosphate as a Cause for Lafora Disease

Retinal Phenotyping of a Murine Model of Lafora Disease

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