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Results: 1 to 20 of 78

1.

Rapid genetic diagnosis in single-gene movement disorders.

Singleton AB.

Mov Disord. 2012 Apr;27(4):467-9. doi: 10.1002/mds.24896. No abstract available.

PMID:
22488858
[PubMed - indexed for MEDLINE]
Free PMC Article
2.

Genetic diagnosis of neuroacanthocytosis disorders using exome sequencing.

Walker RH, Schulz VP, Tikhonova IR, Mahajan MC, Mane S, Arroyo Muniz M, Gallagher PG.

Mov Disord. 2012 Apr;27(4):539-43. doi: 10.1002/mds.24020. Epub 2011 Oct 28.

PMID:
22038564
[PubMed - indexed for MEDLINE]
3.

Antisocial behaviour and neuroacanthocytosis.

Danek A, Bader B, Walker RH.

Int J Clin Pract. 2007 Aug;61(8):1419; author reply 1419. No abstract available.

PMID:
17627720
[PubMed - indexed for MEDLINE]
4.

Dominant transmission of chorea-acanthocytosis with VPS13A mutations remains speculative.

Bader B, Velayos-Baeza A, Walker RH, Danek A.

Acta Neuropathol. 2009 Jan;117(1):95-6; author reply 97-8. doi: 10.1007/s00401-008-0418-7. Epub 2008 Jul 26. No abstract available.

PMID:
18661137
[PubMed - indexed for MEDLINE]
5.

Chorea-acanthocytosis genotype in the original critchley kentucky neuroacanthocytosis kindred.

Velayos-Baeza A, Holinski-Feder E, Neitzel B, Bader B, Critchley EM, Monaco AP, Danek A, Walker RH.

Arch Neurol. 2011 Oct;68(10):1330-3. doi: 10.1001/archneurol.2011.239.

PMID:
21987550
[PubMed - indexed for MEDLINE]
6.

Epilepsy, progessive movement disorder and cognitive decline.

Robertson B, Evans AH, Walterfang M, Ng AP, Velakoulis D.

J Clin Neurosci. 2008 Jul;15(7):812. No abstract available.

PMID:
18589883
[PubMed - indexed for MEDLINE]
7.

[McLeod syndrome: Multisystem involvement associated with neuroacanthocytosis linked to X chromosome. report of two related cases].

Miranda C M, Castiglioni T C, Regonesi L C, Aravena A P, Villagra M L, Quiroz M A, Merino G R, Mena G I.

Rev Med Chil. 2006 Nov;134(11):1436-42. Epub 2007 Jan 2. Spanish.

PMID:
17277857
[PubMed - indexed for MEDLINE]
Free Article
8.

Chorea-acanthocytosis with upper motor neuron degeneration and 3419_3420 delCA and 3970_3973 delAGTC VPS13A mutations.

Miki Y, Nishie M, Ichiba M, Nakamura M, Mori F, Ogawa M, Kaimori M, Sano A, Wakabayashi K.

Acta Neuropathol. 2010 Feb;119(2):271-3. doi: 10.1007/s00401-009-0617-x. Epub 2009 Dec 1. No abstract available.

PMID:
19949804
[PubMed - indexed for MEDLINE]
9.

Comprehensive analysis of the genes responsible for neuroacanthocytosis in mood disorder and schizophrenia.

Shimo H, Nakamura M, Tomiyasu A, Ichiba M, Ueno S, Sano A.

Neurosci Res. 2011 Mar;69(3):196-202. doi: 10.1016/j.neures.2010.12.001. Epub 2010 Dec 9.

PMID:
21145924
[PubMed - indexed for MEDLINE]
10.

Special report: exome sequencing for clinical diagnosis of patients with suspected genetic disorders.

Blue Cross and Blue Shield Association.

Technol Eval Cent Assess Program Exec Summ. 2013 Aug;28(3):1-4. No abstract available.

PMID:
24066368
[PubMed - indexed for MEDLINE]
11.

Exome sequencing can improve diagnosis and alter patient management.

Dixon-Salazar TJ, Silhavy JL, Udpa N, Schroth J, Bielas S, Schaffer AE, Olvera J, Bafna V, Zaki MS, Abdel-Salam GH, Mansour LA, Selim L, Abdel-Hadi S, Marzouki N, Ben-Omran T, Al-Saana NA, Sonmez FM, Celep F, Azam M, Hill KJ, Collazo A, Fenstermaker AG, Novarino G, Akizu N, Garimella KV, Sougnez C, Russ C, Gabriel SB, Gleeson JG.

Sci Transl Med. 2012 Jun 13;4(138):138ra78. doi: 10.1126/scitranslmed.3003544.

PMID:
22700954
[PubMed - indexed for MEDLINE]
Free Article
12.

Choreoacanthocytosis in a Mexican family.

Ruiz-Sandoval JL, García-Navarro V, Chiquete E, Dobson-Stone C, Monaco AP, Alvarez-Palazuelos LE, Padilla-Martínez JJ, Barrera-Chairez E, Rodríguez-Figueroa EI, Pérez-García G.

Arch Neurol. 2007 Nov;64(11):1661-4.

PMID:
17998451
[PubMed - indexed for MEDLINE]
13.

Novel pathogenic mutations and copy number variations in the VPS13A gene in patients with chorea-acanthocytosis.

Tomiyasu A, Nakamura M, Ichiba M, Ueno S, Saiki S, Morimoto M, Kobal J, Kageyama Y, Inui T, Wakabayashi K, Yamada T, Kanemori Y, Jung HH, Tanaka H, Orimo S, Afawi Z, Blatt I, Aasly J, Ujike H, Babovic-Vuksanovic D, Josephs KA, Tohge R, Rodrigues GR, Dupré N, Yamada H, Yokochi F, Kotschet K, Takei T, Rudzińska M, Szczudlik A, Penco S, Fujiwara M, Tojo K, Sano A.

Am J Med Genet B Neuropsychiatr Genet. 2011 Jul;156B(5):620-31. doi: 10.1002/ajmg.b.31206. Epub 2011 May 19.

PMID:
21598378
[PubMed - indexed for MEDLINE]
14.

[Absence of Chorein protein is the molecular basis of psychiatric and neurologic manifestations associated with acanthocytosis in a patient].

Miranda MC.

Rev Med Chil. 2010 Jun;138(6):786-7. Spanish. No abstract available.

PMID:
20919492
[PubMed - indexed for MEDLINE]
15.

Autosomal recessive transmission of chorea-acanthocytosis confirmed.

Danek A, Bader B, Velayos-Baeza A, Walker RH.

Acta Neuropathol. 2012 Jun;123(6):905-6. doi: 10.1007/s00401-012-0971-y. Epub 2012 Apr 3. No abstract available.

PMID:
22476160
[PubMed - indexed for MEDLINE]
16.

Unexpected combination of inherited chorea-acanthocytosis with MDR3 (ABCB4) defect mimicking Wilson's disease.

Anheim M, Chamouard P, Rudolf G, Ellero B, Vercueil L, Goichot B, Marescaux C, Tranchant C.

Clin Genet. 2010 Sep;78(3):294-5. doi: 10.1111/j.1399-0004.2010.01386.x. No abstract available.

PMID:
20695873
[PubMed - indexed for MEDLINE]
17.

Clinical and molecular genetic assessment of a chorea-acanthocytosis pedigree.

Ichiba M, Nakamura M, Kusumoto A, Mizuno E, Kurano Y, Matsuda M, Kato M, Agemura A, Tomemori Y, Muroya S, Nakabeppu Y, Sano A.

J Neurol Sci. 2007 Dec 15;263(1-2):124-32. Epub 2007 Aug 1.

PMID:
17673232
[PubMed - indexed for MEDLINE]
18.

The importance of rare DNA variation in neurologic disease: cautionary tale.

Haines JL.

Neurology. 2013 Mar 12;80(11):974-5. doi: 10.1212/WNL.0b013e318287289c. Epub 2013 Feb 13.

PMID:
23408868
[PubMed - indexed for MEDLINE]
19.

Peripheral blood smear technique for detecting neuroacanthocytosis: a comment.

Wiwanitkit V.

Clin Neurol Neurosurg. 2011 May;113(4):343. doi: 10.1016/j.clineuro.2010.12.012. Epub 2011 Jan 19. No abstract available.

PMID:
21251752
[PubMed - indexed for MEDLINE]
20.

Development of mesial temporal lobe epilepsy in chorea-acanthocytosis.

Scheid R, Bader B, Ott DV, Merkenschlager A, Danek A.

Neurology. 2009 Oct 27;73(17):1419-22. doi: 10.1212/WNL.0b013e3181bd80d4. No abstract available.

PMID:
19858465
[PubMed - indexed for MEDLINE]

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