(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)

1 reference

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22 October 2019

1 reference

linkage disequilibrium

1 reference

2

1 reference

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22 October 2019

Roberto Michelucci

4

1 reference

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22 October 2019

Albert de la Chapelle

8

object named as

A de la Chapelle

1 reference

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22 October 2019

author name string

A E Lehesjoki

1

1 reference

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22 October 2019

G Avanzini

3

1 reference

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22 October 2019

S Franceschetti

5

1 reference

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22 October 2019

A Antonelli

6

1 reference

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22 October 2019

G Rubboli

7

1 reference

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22 October 2019

publication date

1 June 1994

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22 October 2019

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

22 October 2019

volume

93

1 reference

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22 October 2019

issue

6

1 reference

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22 October 2019

page(s)

668-674

1 reference

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

22 October 2019

exact match

0 references

cites work

Psychological findings in progressive myoclonus epilepsy without Lafora bodies.

1 reference

12 December 2020

The Ramsay Hunt syndrome is a useful clinical entity

1 reference

12 December 2020

Progressive myoclonus epilepsy. Electroencephalographical findings

1 reference

12 December 2020

Progressive myoclonus epilepsy of Unverricht-Lundborg type: a clinical and molecular genetic study of a family from the United States with four affected sibs

1 reference

12 December 2020

Strategies for multilocus linkage analysis in humans

1 reference

12 December 2020

Linkage mapping of the cystathionine ?-synthase (CBS) gene on human chromosome 21 using a DNA polymorphism in the 3? untranslated region

1 reference

12 December 2020

Linkage disequilibrium mapping in isolated founder populations: diastrophic dysplasia in Finland

1 reference

12 December 2020

A polymorphic DNA sequence from the terminal part of chromosome 21q [D21S154]

1 reference

12 December 2020

[Electroencephalographic study of myoclonic cerebellar dyssynergia with epilepsy (Ramsay-Hunt syndrome)]

1 reference

12 December 2020

Classification of progressive myoclonus epilepsies and related disorders

1 reference

12 December 2020

Identical genetic locus for Baltic and Mediterranean myoclonus

1 reference

12 December 2020

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

1 reference

12 December 2020

Progressive myoclonus epilepsy. A clinical and histopathological study.

1 reference

12 December 2020

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

1 reference

12 December 2020

The Ramsay Hunt syndrome is no longer a useful diagnostic category

1 reference

12 December 2020

Dinucleotide repeat (GT)n markers on chromosome 21

1 reference

12 December 2020

Localization of a gene for progressive myoclonus epilepsy to chromosome 21q22

1 reference

12 December 2020

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

1 reference

12 December 2020

Progressive myoclonus epilepsies: specific causes and diagnosis

1 reference

12 December 2020

A DNA polymorphism with KpnI of the human liver-type phosphofructokinase (PFKL) gene

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

1 reference

12 December 2020

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

1 reference

12 December 2020

Myoclonic cerebellar dyssynergy (Ramsay Hunt syndrome)

1 reference

12 December 2020

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

1 reference

12 December 2020

A map of the distal region of the long arm of human chromosome 21 constructed by radiation hybrid mapping and pulsed-field gel electrophoresis

1 reference

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

1 reference