PME of Unverricht-Lundborg type in the Mediterranean region: linkage and linkage disequilibrium confirm the assignment to the EPM1 locus (Q71999891)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8005591%20AND%20SRC:MED&resulttype=core&format=json

22 October 2019

title

PME of Unverricht-Lundborg type in the Mediterranean region: linkage and linkage disequilibrium confirm the assignment to the EPM1 locus (English)

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22 October 2019

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linkage disequilibrium

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2

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22 October 2019

Roberto Michelucci

4

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22 October 2019

Albert de la Chapelle

8

object named as

A de la Chapelle

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22 October 2019

author name string

A E Lehesjoki

1

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22 October 2019

G Avanzini

3

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22 October 2019

S Franceschetti

5

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22 October 2019

A Antonelli

6

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22 October 2019

G Rubboli

7

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22 October 2019

publication date

1 June 1994

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22 October 2019

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22 October 2019

volume

93

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22 October 2019

issue

6

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22 October 2019

page(s)

668-674

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https://scigraph.springernature.com/pub.10.1007/bf00201568

22 October 2019

exact match

0 references

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12 December 2020

Identical genetic locus for Baltic and Mediterranean myoclonus

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12 December 2020

Localization of the EPM1 gene for progressive myoclonus epilepsy on chromosome 21: linkage disequilibrium allows high resolution mapping

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12 December 2020

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Mapping complex genetic traits in humans: new methods using a complete RFLP linkage map

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The Ramsay Hunt syndrome is no longer a useful diagnostic category

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A Linkage Map of Human Chromosome 21: 43 PCR Markers at Average Intervals of 2.5 cM

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Progressive myoclonus epilepsies: specific causes and diagnosis

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Linkage mapping of D21S171 to the distal long arm of human chromosome 21 using a polymorphic (AC)n dinucleotide repeat

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Dinucleotide repeat polymorphism at the human liver-type 6-phosphofructokinase (PFKL) gene

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12 December 2020

Linkage studies in progressive myoclonus epilepsy: Unverricht-Lundborg and Lafora's diseases

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12 December 2020

Dyssynergia cerebellaris myoclonica (Ramsay Hunt syndrome): a condition unrelated to mitochondrial encephalomyopathies

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"Baltic" myoclonus epilepsy: hereditary disorder of childhood made worse by phenytoin

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Myoclonic cerebellar dyssynergy (Ramsay Hunt syndrome)

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The Ramsay Hunt syndrome revisited: Mediterranean myoclonus versus mitochondrial encephalomyopathy with ragged-red fibers and Baltic myoclonus.

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12 December 2020

Identifiers

DOI

10.1007/BF00201568

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8005591%20AND%20SRC:MED&resulttype=core&format=json

22 October 2019

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