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Items: 1 to 20 of 38

1.

Expansion of the first PolyA tract of ARX causes infantile spasms and status dystonicus.

Guerrini R, Moro F, Kato M, Barkovich AJ, Shiihara T, McShane MA, Hurst J, Loi M, Tohyama J, Norci V, Hayasaka K, Kang UJ, Das S, Dobyns WB.

Neurology. 2007 Jul 31;69(5):427-33.

PMID:
17664401
2.
3.

The phenotypic spectrum of ARX mutations.

Suri M.

Dev Med Child Neurol. 2005 Feb;47(2):133-7. Review.

PMID:
15707237
4.

ARX spectrum disorders: making inroads into the molecular pathology.

Shoubridge C, Fullston T, Gécz J.

Hum Mutat. 2010 Aug;31(8):889-900. doi: 10.1002/humu.21288. Review.

PMID:
20506206
5.

A new paradigm for West syndrome based on molecular and cell biology.

Kato M.

Epilepsy Res. 2006 Aug;70 Suppl 1:S87-95. Epub 2006 Jun 23. Review.

PMID:
16806828
6.

ARX: a gene for all seasons.

Gécz J, Cloosterman D, Partington M.

Curr Opin Genet Dev. 2006 Jun;16(3):308-16. Epub 2006 May 2. Review.

PMID:
16650978
7.

X-linked mental retardation and epilepsy: pathogenetic significance of ARX mutations.

Hirose S, Mitsudome A.

Brain Dev. 2003 Apr;25(3):161-5. Review.

PMID:
12689693
8.

Genetics of the epilepsies.

Gutierrez-Delicado E, Serratosa JM.

Curr Opin Neurol. 2004 Apr;17(2):147-53. Review.

PMID:
15021241
9.

Interneuron, interrupted: molecular pathogenesis of ARX mutations and X-linked infantile spasms.

Olivetti PR, Noebels JL.

Curr Opin Neurobiol. 2012 Oct;22(5):859-65. doi: 10.1016/j.conb.2012.04.006. Epub 2012 May 5. Review.

10.

The aristaless (Arx) gene: one gene for many "interneuronopathies".

Ruggieri M, Pavone P, Scapagnini G, Romeo L, Lombardo I, Li Volti G, Corsello G, Pavone L.

Front Biosci (Elite Ed). 2010 Jan 1;2:701-10. Review.

PMID:
20036914
11.

The role of ARX in cortical development.

Friocourt G, Poirier K, Rakić S, Parnavelas JG, Chelly J.

Eur J Neurosci. 2006 Feb;23(4):869-76. Review.

PMID:
16519652
12.
13.

[Genetic and clinical aspects of lissencephaly].

Verloes A, Elmaleh M, Gonzales M, Laquerrière A, Gressens P.

Rev Neurol (Paris). 2007 May;163(5):533-47. Review. French.

PMID:
17571022
14.

[ARX--one gene--many phenotypes].

Lisik M, Sieroń AL.

Neurol Neurochir Pol. 2008 Jul-Aug;42(4):338-44. Review. Polish.

PMID:
18975239
15.

Congenital central hypoventilation syndrome from past to future: model for translational and transitional autonomic medicine.

Weese-Mayer DE, Rand CM, Berry-Kravis EM, Jennings LJ, Loghmanee DA, Patwari PP, Ceccherini I.

Pediatr Pulmonol. 2009 Jun;44(6):521-35. doi: 10.1002/ppul.21045. Review.

PMID:
19422034
16.

The genetics of primary dystonias and related disorders.

Németh AH.

Brain. 2002 Apr;125(Pt 4):695-721. Review.

PMID:
11912106
17.

Genetic testing of epileptic encephalopathies of infancy: an approach.

Sharma S, Prasad AN.

Can J Neurol Sci. 2013 Jan;40(1):10-6. Review.

PMID:
23250121
18.

In pursuit (and discovery) of a genetic basis for congenital central hypoventilation syndrome.

Weese-Mayer DE, Berry-Kravis EM, Marazita ML.

Respir Physiol Neurobiol. 2005 Nov 15;149(1-3):73-82. Epub 2005 Jul 28. Review.

PMID:
16054879
19.

Atypical ZFHX1B mutation associated with a mild Mowat-Wilson syndrome phenotype.

Zweier C, Horn D, Kraus C, Rauch A.

Am J Med Genet A. 2006 Apr 15;140(8):869-72. Review.

PMID:
16532472
20.

The other trinucleotide repeat: polyalanine expansion disorders.

Albrecht A, Mundlos S.

Curr Opin Genet Dev. 2005 Jun;15(3):285-93. Review.

PMID:
15917204

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