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Items: 1 to 20 of 96

1.

Neuroscience. Preventable forms of autism?

Beaudet AL.

Science. 2012 Oct 19;338(6105):342-3. doi: 10.1126/science.1229178. No abstract available.

2.

Mutations in BCKD-kinase lead to a potentially treatable form of autism with epilepsy.

Novarino G, El-Fishawy P, Kayserili H, Meguid NA, Scott EM, Schroth J, Silhavy JL, Kara M, Khalil RO, Ben-Omran T, Ercan-Sencicek AG, Hashish AF, Sanders SJ, Gupta AR, Hashem HS, Matern D, Gabriel S, Sweetman L, Rahimi Y, Harris RA, State MW, Gleeson JG.

Science. 2012 Oct 19;338(6105):394-7. doi: 10.1126/science.1224631. Epub 2012 Sep 6.

3.

A common susceptibility factor of both autism and epilepsy: functional deficiency of GABA A receptors.

Kang JQ, Barnes G.

J Autism Dev Disord. 2013 Jan;43(1):68-79. doi: 10.1007/s10803-012-1543-7. Review.

PMID:
22555366
4.

[Positional cloning of genes responsible for epilepsy and autism using a patient with chromosomal translocation].

Isomura M, Nakamura Y.

Tanpakushitsu Kakusan Koso. 1997 Dec;42(17 Suppl):2786-90. Review. Japanese. No abstract available.

PMID:
9455194
5.

The autism diet.

Alpert M.

Sci Am. 2007 Apr;296(4):19-20. No abstract available.

PMID:
17479620
6.

Duplication of the 15q11-13 region in a patient with autism, epilepsy and ataxia.

Bundey S, Hardy C, Vickers S, Kilpatrick MW, Corbett JA.

Dev Med Child Neurol. 1994 Aug;36(8):736-42.

PMID:
8050626
7.

Phosphatase and tensin homolog (PTEN) gene mutations and autism: literature review and a case report of a patient with Cowden syndrome, autistic disorder, and epilepsy.

Conti S, Condò M, Posar A, Mari F, Resta N, Renieri A, Neri I, Patrizi A, Parmeggiani A.

J Child Neurol. 2012 Mar;27(3):392-7. doi: 10.1177/0883073811420296. Epub 2011 Sep 29. Review.

PMID:
21960672
8.

A new rat model for vulnerability to epilepsy and autism spectrum disorders.

Gilby KL.

Epilepsia. 2008 Nov;49 Suppl 8:108-10. doi: 10.1111/j.1528-1167.2008.01851.x. Review.

9.

The EL mouse: a natural model of autism and epilepsy.

Meidenbauer JJ, Mantis JG, Seyfried TN.

Epilepsia. 2011 Feb;52(2):347-57. doi: 10.1111/j.1528-1167.2010.02898.x. Epub 2011 Jan 4.

10.

Implication of sex differences in the familial transmission of infantile autism.

Tsai L, Stewart MA, August G.

J Autism Dev Disord. 1981 Jun;11(2):165-73.

PMID:
6927702
11.

Convulsing toward the pathophysiology of autism.

Tuchman R, Moshé SL, Rapin I.

Brain Dev. 2009 Feb;31(2):95-103. doi: 10.1016/j.braindev.2008.09.009. Epub 2008 Nov 8. Review.

12.

[Autism, epilepsy and genetics].

Muñoz-Yunta JA, Palau-Baduell M, Salvadó-Salvadó B, Valls-Santasusana A, Rosendo-Moreno N, Clofent-Torrentó M, Manchado F.

Rev Neurol. 2008;46 Suppl 1:S71-7. Review. Spanish.

13.

Branched chain alpha-keto acid dehydrogenase, E1-beta subunit gene is associated with premature ovarian failure.

Kang H, Lee SK, Cho SW, Lee SH, Kwack K.

Fertil Steril. 2008 Mar;89(3):728-31. Epub 2007 May 24.

PMID:
17524396
14.

Autism-epilepsy phenotype with macrocephaly suggests PTEN, but not GLIALCAM, genetic screening.

Marchese M, Conti V, Valvo G, Moro F, Muratori F, Tancredi R, Santorelli FM, Guerrini R, Sicca F.

BMC Med Genet. 2014 Feb 27;15:26. doi: 10.1186/1471-2350-15-26.

15.

Identification of a founder mutation for maple syrup urine disease in Hutterites.

Mroch A, Davis-Keppen L, Matthes C, Stein Q.

S D Med. 2014 Apr;67(4):141-3.

PMID:
24791375
17.

Molecular characterization of maple syrup urine disease patients from Tunisia.

Jaafar N, Moleirinho A, Kerkeni E, Monastiri K, Seboui H, Amorim A, Prata MJ, Quental S.

Gene. 2013 Mar 15;517(1):116-9. doi: 10.1016/j.gene.2012.12.097. Epub 2013 Jan 9.

PMID:
23313820
18.

A family genetic study of autism associated with profound mental retardation.

Starr E, Berument SK, Pickles A, Tomlins M, Bailey A, Papanikolaou K, Rutter M.

J Autism Dev Disord. 2001 Feb;31(1):89-96.

PMID:
11439758
19.

De novo SYNGAP1 mutations in nonsyndromic intellectual disability and autism.

Hamdan FF, Daoud H, Piton A, Gauthier J, Dobrzeniecka S, Krebs MO, Joober R, Lacaille JC, Nadeau A, Milunsky JM, Wang Z, Carmant L, Mottron L, Beauchamp MH, Rouleau GA, Michaud JL.

Biol Psychiatry. 2011 May 1;69(9):898-901. doi: 10.1016/j.biopsych.2010.11.015. Epub 2011 Jan 15.

PMID:
21237447
20.

The role of epilepsy and epileptiform EEGs in autism spectrum disorders.

Spence SJ, Schneider MT.

Pediatr Res. 2009 Jun;65(6):599-606. doi: 10.1203/PDR.0b013e31819e7168. Review.

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