Literature DB >> 7611286

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

P L Kramer, Q Yue, S T Gancher, J G Nutt, R Baloh, E Smith, D Browne, K Bussey, E Lovrien, S Nelson.   

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Year:  1995        PMID： 7611286      PMCID： PMC1801225     

Source DB:  PubMed          Journal:  Am J Hum Genet        ISSN： 0002-9297            Impact factor:   11.025


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  15 in total

1.  Familial periodic cerebellar ataxia: a problem of cerebellar intracellular pH homeostasis.

Authors:  P G Bain; M D O'Brien; S F Keevil; D A Porter
Journal:  Ann Neurol       Date:  1992-02       Impact factor: 10.422

2.  Shadow bands seen when typing polymorphic dinucleotide repeats: some causes and cures.

Authors:  M Litt; X Hauge; V Sharma
Journal:  Biotechniques       Date:  1993-08       Impact factor: 1.993

3.  Avoiding recomputation in linkage analysis.

Authors:  A A Schäffer; S K Gupta; K Shriram; R W Cottingham
Journal:  Hum Hered       Date:  1994 Jul-Aug       Impact factor: 0.444

4.  Integrated human genome-wide maps constructed using the CEPH reference panel.

Authors:  K H Buetow; J L Weber; S Ludwigsen; T Scherpbier-Heddema; G M Duyk; V C Sheffield; Z Wang; J C Murray
Journal:  Nat Genet       Date:  1994-04       Impact factor: 38.330

5.  Polymorphic DNA region adjacent to the 5' end of the human insulin gene.

Authors:  G I Bell; J H Karam; W J Rutter
Journal:  Proc Natl Acad Sci U S A       Date:  1981-09       Impact factor: 11.205

6.  Acetazolamide-responsive vestibulocerebellar syndrome: clinical and oculographic features.

Authors:  R W Baloh; A Winder
Journal:  Neurology       Date:  1991-03       Impact factor: 9.910

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

Authors:  B von Brederlow; A F Hahn; W J Koopman; G C Ebers; D E Bulman
Journal:  Hum Mol Genet       Date:  1995-02       Impact factor: 6.150

8.  A gene for familial hemiplegic migraine maps to chromosome 19.

Authors:  A Joutel; M G Bousser; V Biousse; P Labauge; H Chabriat; A Nibbio; J Maciazek; B Meyer; M A Bach; J Weissenbach
Journal:  Nat Genet       Date:  1993-09       Impact factor: 38.330

Review 9.  Transporters, channels and human disease.

Authors:  F M Ashcroft; J Röper
Journal:  Curr Opin Cell Biol       Date:  1993-08       Impact factor: 8.382

10.  Autosomal dominant episodic ataxia: a heterogeneous syndrome.

Authors:  S T Gancher; J G Nutt
Journal:  Mov Disord       Date:  1986       Impact factor: 10.338
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  10 in total

Review 1.  In vivo analysis of voltage-dependent calcium channels.

Authors:  Ling Liu; Theresa A Zwingman; Colin F Fletcher
Journal:  J Bioenerg Biomembr       Date:  2003-12       Impact factor: 2.945

Review 2.  Genetic analysis of voltage-dependent calcium channels.

Authors:  C F Fletcher; N G Copeland; N A Jenkins
Journal:  J Bioenerg Biomembr       Date:  1998-08       Impact factor: 2.945

Review 3.  The inherited ataxias and the new genetics.

Authors:  S R Hammans
Journal:  J Neurol Neurosurg Psychiatry       Date:  1996-10       Impact factor: 10.154

Review 4.  Neuronal P/Q-type calcium channel dysfunction in inherited disorders of the CNS.

Authors:  Sanjeev Rajakulendran; Diego Kaski; Michael G Hanna
Journal:  Nat Rev Neurol       Date:  2012-01-17       Impact factor: 42.937

5.  Abnormal excitability and episodic low-frequency oscillations in the cerebral cortex of the tottering mouse.

Authors:  Samuel W Cramer; Laurentiu S Popa; Russell E Carter; Gang Chen; Timothy J Ebner
Journal:  J Neurosci       Date:  2015-04-08       Impact factor: 6.167

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

Authors:  J Doyle; X Ren; G Lennon; L Stubbs
Journal:  Mamm Genome       Date:  1997-02       Impact factor: 2.957

7.  Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy, genetic homogeneity, and mapping of the locus within a 2-cM interval.

Authors:  A Ducros; T Nagy; S Alamowitch; A Nibbio; A Joutel; K Vahedi; H Chabriat; M T Iba-Zizen; J Julien; P Davous; J Y Goas; O Lyon-Caen; B Dubois; X Ducrocq; F Salsa; M Ragno; P Burkhard; C Bassetti; M Hutchinson; M Vérin; F Viader; F Chapon; M Levasseur; J L Mas; O Delrieu
Journal:  Am J Hum Genet       Date:  1996-01       Impact factor: 11.025

8.  CACNA1A Mutations Associated With Epilepsies and Their Molecular Sub-Regional Implications.

Authors:  Xue-Lian Li; Zong-Jun Li; Xiao-Yu Liang; De-Tian Liu; Mi Jiang; Liang-Di Gao; Huan Li; Xue-Qing Tang; Yi-Wu Shi; Bing-Mei Li; Na He; Bin Li; Wen-Jun Bian; Yong-Hong Yi; Chuan-Fang Cheng; Jie Wang
Journal:  Front Mol Neurosci       Date:  2022-05-04       Impact factor: 5.639

9.  Next-generation sequencing identifies novel CACNA1A gene mutations in episodic ataxia type 2.

Authors:  Neven Maksemous; Bishakha Roy; Robert A Smith; Lyn R Griffiths
Journal:  Mol Genet Genomic Med       Date:  2016-01-20       Impact factor: 2.183

10.  Cadasil - genetic and ultrastructural diagnosis. Case report.

Authors:  Julio Cesar Vasconcelos da Silva; Leila Chimelli; Felipe Kenji Sudo; Eliasz Engelhardt
Journal:  Dement Neuropsychol       Date:  2015 Oct-Dec
  10 in total

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