Lafora Disease

Known as: EPILEPSY, PROGRESSIVE MYOCLONIC, 2A, Disorder, Lafora Body, Epilepsy Progressive Myoclonic 2 
A form of stimulus sensitive myoclonic epilepsy inherited as an autosomal recessive condition. The most common presenting feature is a single seizure… (More)
National Institutes of Health

Papers overview

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Review
2017
Review
2017
Androgen receptor (AR) is a validated drug target for prostate cancer based on its role in proliferation, survival, and… (More)
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Review
2017
Review
2017
INTRODUCTION A classification framework for posterior cortical atrophy (PCA) is proposed to improve the uniformity of definition… (More)
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Highly Cited
2007
Highly Cited
2007
OBJECTIVE To examine the spectrum of neuropathology in persons from the Rush Memory and Aging Project, a longitudinal community… (More)
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Highly Cited
2005
Highly Cited
2005
Lafora disease (LD) is a fatal form of progressive myoclonus epilepsy caused by recessive mutations in either a gene encoding a… (More)
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Highly Cited
2002
Highly Cited
2002
Lafora disease (progressive myoclonus epilepsy of Lafora type) is an autosomal recessive neurodegenerative disorder resulting… (More)
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Highly Cited
1998
Highly Cited
1998
Ligand-dependent activation of transcription by nuclear receptors (NRs) is mediated by interactions with coactivators. Receptor… (More)
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Highly Cited
1998
Highly Cited
1998
The peroxisome proliferator-activated receptor-γ (PPAR-γ) is a ligand-dependent transcription factor that is important in… (More)
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Highly Cited
1997
Highly Cited
1997
Oestrogens are involved in the growth, development and homeostasis of a number of tissues. The physiological effects of these… (More)
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Highly Cited
1997
Highly Cited
1997
The rat estrogen receptor (ER) exists as two subtypes, ERa and ERb, which differ in the C-terminal ligand binding domain and in… (More)
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Highly Cited
1990
Highly Cited
1990
An A to G transition mutation at nucleotide pair 8344 in human mitochondrial DNA (mtDNA) has been identified as the cause of… (More)
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