(Q33854600)

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Autosomal recessive rolandic epilepsy with paroxysmal exercise-induced dystonia and writer's cramp: delineation of the syndrome and gene mapping to chromosome 16p12-11.2.

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Europe PubMed Central

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29 July 2017

Autosomal recessive rolandic epilepsy with paroxysmal exercise-induced dystonia and writer's cramp: delineation of the syndrome and gene mapping to chromosome 16p12-11.2. (English)

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Europe PubMed Central

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29 July 2017

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P Aridon

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R Guerrini

1

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Europe PubMed Central

PubMed publication ID

29 July 2017

P Bonanni

2

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Europe PubMed Central

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29 July 2017

N Nardocci

3

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Europe PubMed Central

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29 July 2017

L Parmeggiani

4

1 reference

Europe PubMed Central

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29 July 2017

M Piccirilli

5

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Europe PubMed Central

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29 July 2017

M De Fusco

6

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Europe PubMed Central

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29 July 2017

A Ballabio

8

1 reference

Europe PubMed Central

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29 July 2017

R Carrozzo

9

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29 July 2017

G Casari

10

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29 July 2017

publication date

1 March 1999

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29 July 2017

Annals of Neurology

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29 July 2017

45

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Europe PubMed Central

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29 July 2017

3

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Europe PubMed Central

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29 July 2017

344-352

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Europe PubMed Central

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29 July 2017

Familial infantile convulsions and paroxysmal choreoathetosis: a new neurological syndrome linked to the pericentromeric region of human chromosome 16

1 reference

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Abnormal cortical motor excitability in dystonia.

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Impaired inhibition in writer's cramp during voluntary muscle activation.

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Strategies for multilocus linkage analysis in humans

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Topographical analysis of the centrotemporal discharges in benign rolandic epilepsy of childhood

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21 January 2018

Amiloride-sensitive epithelial Na+ channel is made of three homologous subunits

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Molecular cloning, expression, and characterization of the human mitogen-activated protein kinase p44erk1

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Epilepsies with single gene inheritance.

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Unilateral opercular macrogyria and benign childhood epilepsy with centrotemporal (rolandic) spikes: report of a case.

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21 January 2018

Familial paroxysmal dystonic choreoathetosis and its differentiation from related syndromes

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21 January 2018

Familial paroxysmal dystonia induced by exercise

1 reference

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Paroxysmal hemidystonia induced by prolonged exercise and cold

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21 January 2018

Paroxysmal dyskinesias: clinical features and classification

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21 January 2018

Paroxysmal exercise-induced dystonia: eight new sporadic cases and a review of the literature

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21 January 2018

Transient paroxysmal dystonia in infancy.

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21 January 2018

Benign paroxysmal tonic upgaze of childhood

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21 January 2018

Paroxysmal tonic upgaze of childhood with ataxia: a benign transient dystonia with autosomal dominant inheritance.

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21 January 2018

Phenotypic expression of the DYT1 mutation: a family with writer's cramp of juvenile onset.

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Familial writer's cramp

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Abnormalities of short-latency somatosensory evoked potentials in parkinsonian patients

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Cortical inhibition in Parkinson's disease. A study with paired magnetic stimulation.

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Epileptic negative myoclonus.

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Selective epileptic gait disorder

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An uncommon seizure disorder: familial paroxysmal choreoathetosis

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Paroxysmal choreoathetosis. Report of Chinese cases

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The skeletal muscle chloride channel in dominant and recessive human myotonia

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Hypertension caused by a truncated epithelial sodium channel gamma subunit: genetic heterogeneity of Liddle syndrome

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Mutations in subunits of the epithelial sodium channel cause salt wasting with hyperkalaemic acidosis, pseudohypoaldosteronism type 1

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Ras involvement in signal transduction by the serotonin 5-HT2B receptor

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Spectrum of mutations in the Batten disease gene, CLN3

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Familial paroxysmal kinesigenic ataxia and continuous myokymia.

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Identifiers

10.1002/1531-8249(199903)45:3<344::AID-ANA10>3.0.CO;2-9

1 reference

Europe PubMed Central

PubMed publication ID

29 July 2017

release_gstq55qvnnf2rgd3nnqmcom72m

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29 July 2017

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