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Results: 7

1.

Senataxin, the yeast Sen1p orthologue: characterization of a unique protein in which recessive mutations cause ataxia and dominant mutations cause motor neuron disease.

Chen YZ, Hashemi SH, Anderson SK, Huang Y, Moreira MC, Lynch DR, Glass IA, Chance PF, Bennett CL.

Neurobiol Dis. 2006 Jul;23(1):97-108. Epub 2006 Apr 27.

PMID:
16644229
[PubMed - indexed for MEDLINE]
2.

[Autosomal recessive cerebellar ataxias with oculomotor apraxia].

Le Ber I, Rivaud-Péchoux S, Brice A, Dürr A.

Rev Neurol (Paris). 2006 Feb;162(2):177-84. Review. French.

PMID:
16518257
[PubMed - indexed for MEDLINE]
3.

New autosomal recessive cerebellar ataxias with oculomotor apraxia.

Le Ber I, Brice A, Dürr A.

Curr Neurol Neurosci Rep. 2005 Sep;5(5):411-7. Review.

PMID:
16131425
[PubMed - indexed for MEDLINE]
4.

Molecular and cellular function of ALS2/alsin: implication of membrane dynamics in neuronal development and degeneration.

Hadano S, Kunita R, Otomo A, Suzuki-Utsunomiya K, Ikeda JE.

Neurochem Int. 2007 Jul-Sep;51(2-4):74-84. Epub 2007 May 4. Review.

PMID:
17566607
[PubMed - indexed for MEDLINE]
5.

The molecular genetics of non-ALS motor neuron diseases.

James PA, Talbot K.

Biochim Biophys Acta. 2006 Nov-Dec;1762(11-12):986-1000. Epub 2006 May 5. Review.

PMID:
16765570
[PubMed - indexed for MEDLINE]
Free Article
6.

Seipinopathy: a novel endoplasmic reticulum stress-associated disease.

Ito D, Suzuki N.

Brain. 2009 Jan;132(Pt 1):8-15. doi: 10.1093/brain/awn216. Epub 2008 Sep 12. Review.

PMID:
18790819
[PubMed - indexed for MEDLINE]
Free Article
7.

Laboratory diagnosis and molecular classification of von Willebrand disease.

Gadisseur A, Hermans C, Berneman Z, Schroyens W, Deckmyn H, Michiels JJ.

Acta Haematol. 2009;121(2-3):71-84. doi: 10.1159/000214846. Epub 2009 Jun 8. Review.

PMID:
19506352
[PubMed - indexed for MEDLINE]

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