(Q61981684)

English

Mutations in the Cacnl1a4 calcium channel gene are associated with seizures, cerebellar degeneration, and ataxia in tottering and leaner mutant mice

scientific article published in February 1997

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scholarly article

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9060410%20AND%20SRC:MED&resulttype=core&format=json

1 November 2019

Mutations in the Cacnl1a4 calcium channel gene are associated with seizures, cerebellar degeneration, and ataxia in tottering and leaner mutant mice (English)

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9060410%20AND%20SRC:MED&resulttype=core&format=json

1 November 2019

4

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9060410%20AND%20SRC:MED&resulttype=core&format=json

1 November 2019

author name string

J Doyle

1

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9060410%20AND%20SRC:MED&resulttype=core&format=json

1 November 2019

X Ren

2

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9060410%20AND%20SRC:MED&resulttype=core&format=json

1 November 2019

G Lennon

3

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9060410%20AND%20SRC:MED&resulttype=core&format=json

1 November 2019

publication date

1 February 1997

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9060410%20AND%20SRC:MED&resulttype=core&format=json

1 November 2019

number of pages

8

1 reference

based on heuristic

inferred from page(s)

Mammalian Genome

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9060410%20AND%20SRC:MED&resulttype=core&format=json

1 November 2019

8

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9060410%20AND%20SRC:MED&resulttype=core&format=json

1 November 2019

2

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9060410%20AND%20SRC:MED&resulttype=core&format=json

1 November 2019

113-120

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9060410%20AND%20SRC:MED&resulttype=core&format=json

1 November 2019

https://scigraph.springernature.com/pub.10.1007/s003359900369

0 references

Three syndromes produced by two mutant genes in the mouse. Clinical, pathological, and ultrastructural bases of tottering, leaner, and heterozygous mice

1 reference

https://pubmed.ncbi.nlm.nih.gov/9060410

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A potassium channel mutation in weaver mice implicates membrane excitability in granule cell differentiation

1 reference

https://pubmed.ncbi.nlm.nih.gov/9060410

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A gene for familial hemiplegic migraine maps to chromosome 19

1 reference

https://pubmed.ncbi.nlm.nih.gov/9060410

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Excessive intra- and supragranular mossy fibers in the dentate gyrus of tottering (tg/tg) mice.

1 reference

https://pubmed.ncbi.nlm.nih.gov/9060410

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Episodic ataxias as channelopathies

1 reference

https://pubmed.ncbi.nlm.nih.gov/9060410

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Primary structure and functional expression from complementary DNA of a brain calcium channel

1 reference

https://pubmed.ncbi.nlm.nih.gov/9060410

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mouse chromosome 8

1 reference

https://pubmed.ncbi.nlm.nih.gov/9060410

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Evidence for allelism of leaner and tottering in the mouse

1 reference

https://pubmed.ncbi.nlm.nih.gov/9060410

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A Macintosh program for storage and analysis of experimental genetic mapping data

1 reference

https://pubmed.ncbi.nlm.nih.gov/9060410

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Characterization and functional expression of a cDNA encoding egasyn (esterase-22): the endoplasmic reticulum-targeting protein of β-glucuronidase

1 reference

https://pubmed.ncbi.nlm.nih.gov/9060410

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Cerebellar cell degeneration in the leaner mutant mouse.

1 reference

https://pubmed.ncbi.nlm.nih.gov/9060410

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Autosomal dominant episodic ataxia: a heterogeneous syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/9060410

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Inherited epilepsy: spike-wave and focal motor seizures in the mutant mouse tottering

1 reference

https://pubmed.ncbi.nlm.nih.gov/9060410

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Familial periodic cerebellar ataxia without myokymia maps to a 19-cM region on 19p13

1 reference

https://pubmed.ncbi.nlm.nih.gov/9060410

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The tottering mouse: a critical review of its usefulness in the study of the neuronal mechanisms underlying epilepsy

1 reference

https://pubmed.ncbi.nlm.nih.gov/9060410

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Episodic ataxia/myokymia syndrome is associated with point mutations in the human potassium channel gene, KCNA1

1 reference

https://pubmed.ncbi.nlm.nih.gov/9060410

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A two-motif isoform of the major calcium channel subunit in skeletal muscle

1 reference

https://pubmed.ncbi.nlm.nih.gov/9060410

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Purkinje cell loss from alternating sagittal zones in the cerebellum of leaner mutant mice

1 reference

https://pubmed.ncbi.nlm.nih.gov/9060410

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A locus for the nystagmus-associated form of episodic ataxia maps to an 11-cM region on chromosome 19p

1 reference

https://pubmed.ncbi.nlm.nih.gov/9060410

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Locations of human and mouse genes encoding the RFX1 and RFX2 transcription factor proteins

1 reference

https://pubmed.ncbi.nlm.nih.gov/9060410

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Tottering--a neuromusclar mutation in the mouse. And its linkage with oligosyndacylism

1 reference

https://pubmed.ncbi.nlm.nih.gov/9060410

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Acetazolamide-responsive episodic ataxia syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/9060410

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Chromosomal localization of the human genes for alpha 1A, alpha 1B, and alpha 1E voltage-dependent Ca2+ channel subunits

1 reference

https://pubmed.ncbi.nlm.nih.gov/9060410

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Primary structure of a calcium channel that is highly expressed in the rat cerebellum

1 reference

https://pubmed.ncbi.nlm.nih.gov/9060410

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The murine genes Hox-5.1 and Hox-4.1 belong to the same HOX complex on chromosome 2.

1 reference

https://pubmed.ncbi.nlm.nih.gov/9060410

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The molecular basis of the sparse fur mouse mutation

1 reference

https://pubmed.ncbi.nlm.nih.gov/9060410

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identification of a mutation in the gene causing hyperkalemic periodic paralysis

1 reference

https://pubmed.ncbi.nlm.nih.gov/9060410

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A gene for hereditary paroxysmal cerebellar ataxia maps to chromosome 19p

1 reference

https://pubmed.ncbi.nlm.nih.gov/9060410

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mutant mouse tottering: selective increase of locus ceruleus axons in a defined single-locus mutation

1 reference

https://pubmed.ncbi.nlm.nih.gov/9060410

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The gene encoding adenylyl cyclase VII is located in central mouse chromosome 8.

1 reference

https://pubmed.ncbi.nlm.nih.gov/9060410

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Structure and function of voltage-gated ion channels

1 reference

https://pubmed.ncbi.nlm.nih.gov/9060410

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Disturbances in developmental pathways leading to a neurological disorder of genetic origin, “leaner,” in mice

1 reference

https://pubmed.ncbi.nlm.nih.gov/9060410

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

An integrated metric physical map of human chromosome 19.

1 reference

https://pubmed.ncbi.nlm.nih.gov/9060410

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The characterization of a novel human adenylyl cyclase which is present in brain and other tissues

1 reference

https://pubmed.ncbi.nlm.nih.gov/9060410

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Peg3 imprinted gene on proximal chromosome 7 encodes for a zinc finger protein.

1 reference

https://pubmed.ncbi.nlm.nih.gov/9060410

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Characterization of cDNA clones containing CCA trinucleotide repeats derived from human brain

1 reference

https://pubmed.ncbi.nlm.nih.gov/9060410

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Cloning and characterization of the promoter of the murine lipoprotein lipase-encoding gene: structural and functional analysis

1 reference

https://pubmed.ncbi.nlm.nih.gov/9060410

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Detailed comparative map of human chromosome 19q and related regions of the mouse genome

1 reference

https://pubmed.ncbi.nlm.nih.gov/9060410

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mapping the gene for acetazolamide responsive hereditary paryoxysmal cerebellar ataxia to chromosome 19p

1 reference

https://pubmed.ncbi.nlm.nih.gov/9060410

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1007/S003359900369

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9060410%20AND%20SRC:MED&resulttype=core&format=json

1 November 2019

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9060410%20AND%20SRC:MED&resulttype=core&format=json

1 November 2019

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