4.5 Article

Italian cohort of Lafora disease: Clinical features, disease evolution, and genotype-phenotype correlations

相关参考文献

注意:仅列出部分参考文献,下载原文获取全部文献信息。
Article Clinical Neurology

The presenting symptoms of Lafora Disease: An electroclinical and genetic study in five Apulian (Southern Italy) families

Giuseppe d'Orsi et al.

SEIZURE-EUROPEAN JOURNAL OF EPILEPSY (2020)

Article Clinical Neurology

Early Parkinsonism in a Senegalese girl with Lafora disease

Francesca Ragona et al.

EPILEPTIC DISORDERS (2020)

Article Clinical Neurology

Genotypes and phenotypes of patients with Lafora disease living in Germany

David Brenner et al.

NEUROLOGICAL RESEARCH AND PRACTICE (2019)

Article Biochemistry & Molecular Biology

Astrocytes: new players in progressive myoclonus epilepsy of Lafora type

Carla Rubio-Villena et al.

HUMAN MOLECULAR GENETICS (2018)

Review Biochemistry & Molecular Biology

Lafora disease offers a unique window into neuronal glycogen metabolism

Matthew S. Gentry et al.

JOURNAL OF BIOLOGICAL CHEMISTRY (2018)

Review Clinical Neurology

Lafora disease - from pathogenesis to treatment strategies

Felix Nitschke et al.

NATURE REVIEWS NEUROLOGY (2018)

Review Cell Biology

Lafora Disease: A Ubiquitination-Related Pathology

Maria Adelaida Garcia-Gimeno et al.

Article Clinical Neurology

A novel EPM2A mutation in a patient with Lafora disease presenting with early parkinsonism symptoms in childhood

Edibe Pembegul Yildiz et al.

SEIZURE-EUROPEAN JOURNAL OF EPILEPSY (2017)

Article Genetics & Heredity

Clinical and genetic data on Lafora disease patients of Serbian/Montenegrin origin

M. Kecmanovic et al.

CLINICAL GENETICS (2016)

Article Clinical Neurology

Mild Lafora disease: Clinical, neurophysiologic, and genetic findings

Edoardo Ferlazzo et al.

EPILEPSIA (2014)

Article Clinical Neurology

Progressive myoclonic epilepsies Definitive and still undetermined causes

Silvana Franceschetti et al.

NEUROLOGY (2014)

Article Clinical Neurology

Lafora disease: Severe phenotype associated with homozygous deletion of the NHLRC1 gene

Miljana Kecmanovic et al.

JOURNAL OF THE NEUROLOGICAL SCIENCES (2013)

Article Clinical Neurology

Presentation of an unusual patient with Lafora disease

Selim Gokdemir et al.

EPILEPTIC DISORDERS (2012)

Article Multidisciplinary Sciences

A PTG Variant Contributes to a Milder Phenotype in Lafora Disease

Rosa Guerrero et al.

PLOS ONE (2011)

Article Clinical Neurology

MRI volumetry and proton MR spectroscopy of the brain in Lafora disease

V Villanueva et al.

EPILEPSIA (2006)

Article Clinical Neurology

Clinical and genetic findings in 26 Italian patients with Lafora disease

S Franceschetti et al.

EPILEPSIA (2006)

Article Clinical Neurology

Lafora disease due to EPM2B mutations -: A clinical and genetic study

C Gomez-Abad et al.

NEUROLOGY (2005)

Article Genetics & Heredity

Mutations in NHLRC1 cause progressive myoclonus epilepsy

EM Chan et al.

NATURE GENETICS (2003)

Article Genetics & Heredity

Genetic mapping of a new Lafora progressive myoclonus epilepsy locus (EPM2B) on 6p22

EM Chan et al.

JOURNAL OF MEDICAL GENETICS (2003)

Article Clinical Neurology

Long-term observations of two siblings with Lafora disease treated with zonisamide

I Yoshimura et al.

EPILEPSY RESEARCH (2001)

Review Clinical Neurology

Lafora's disease: Towards a clinical, pathologic, and molecular synthesis

BA Minassian

PEDIATRIC NEUROLOGY (2001)