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Items: 1 to 20 of 151

1.

Regional brain volume abnormalities in Lesch-Nyhan disease and its variants: a cross-sectional study.

Schretlen DJ, Varvaris M, Ho TE, Vannorsdall TD, Gordon B, Harris JC, Jinnah HA.

Lancet Neurol. 2013 Dec;12(12):1151-8.

2.

Brain white matter volume abnormalities in Lesch-Nyhan disease and its variants.

Schretlen DJ, Varvaris M, Vannorsdall TD, Gordon B, Harris JC, Jinnah HA.

Neurology. 2015 Jan 13;84(2):190-6. doi: 10.1212/WNL.0000000000001128. Epub 2014 Dec 10.

3.

Attenuated variants of Lesch-Nyhan disease.

Jinnah HA, Ceballos-Picot I, Torres RJ, Visser JE, Schretlen DJ, Verdu A, Laróvere LE, Chen CJ, Cossu A, Wu CH, Sampat R, Chang SJ, de Kremer RD, Nyhan W, Harris JC, Reich SG, Puig JG; Lesch-Nyhan Disease International Study Group.

Brain. 2010 Mar;133(Pt 3):671-89. doi: 10.1093/brain/awq013. Epub 2010 Feb 22. Review.

4.

Presynaptic dopaminergic deficits in Lesch-Nyhan disease.

Ernst M, Zametkin AJ, Matochik JA, Pascualvaca D, Jons PH, Hardy K, Hankerson JG, Doudet DJ, Cohen RM.

N Engl J Med. 1996 Jun 13;334(24):1568-72.

5.

Craniocerebral magnetic resonance imaging measurement and findings in Lesch-Nyhan syndrome.

Harris JC, Lee RR, Jinnah HA, Wong DF, Yaster M, Bryan RN.

Arch Neurol. 1998 Apr;55(4):547-53.

PMID:
9561984
6.

Genotypic and phenotypic spectrum in attenuated variants of Lesch-Nyhan disease.

Fu R, Chen CJ, Jinnah HA.

Mol Genet Metab. 2014 Aug;112(4):280-5. doi: 10.1016/j.ymgme.2014.05.012. Epub 2014 May 28. Review.

7.

Lesch-Nyhan disease and the basal ganglia.

Visser JE, Bär PR, Jinnah HA.

Brain Res Brain Res Rev. 2000 Apr;32(2-3):449-75. Review.

PMID:
10760551
8.

Brain and behaviour in children with 22q11.2 deletion syndrome: a volumetric and voxel-based morphometry MRI study.

Campbell LE, Daly E, Toal F, Stevens A, Azuma R, Catani M, Ng V, van Amelsvoort T, Chitnis X, Cutter W, Murphy DG, Murphy KC.

Brain. 2006 May;129(Pt 5):1218-28. Epub 2006 Mar 28.

PMID:
16569671
9.

Brain structural differences associated with the behavioural phenotype in children with Williams syndrome.

Campbell LE, Daly E, Toal F, Stevens A, Azuma R, Karmiloff-Smith A, Murphy DG, Murphy KC.

Brain Res. 2009 Mar 3;1258:96-107. doi: 10.1016/j.brainres.2008.11.101. Epub 2008 Dec 11.

PMID:
19118537
10.

Mapping the brain in autism. A voxel-based MRI study of volumetric differences and intercorrelations in autism.

McAlonan GM, Cheung V, Cheung C, Suckling J, Lam GY, Tai KS, Yip L, Murphy DG, Chua SE.

Brain. 2005 Feb;128(Pt 2):268-76. Epub 2004 Nov 17.

PMID:
15548557
11.

Distinct anatomical subtypes of the behavioural variant of frontotemporal dementia: a cluster analysis study.

Whitwell JL, Przybelski SA, Weigand SD, Ivnik RJ, Vemuri P, Gunter JL, Senjem ML, Shiung MM, Boeve BF, Knopman DS, Parisi JE, Dickson DW, Petersen RC, Jack CR Jr, Josephs KA.

Brain. 2009 Nov;132(Pt 11):2932-46. doi: 10.1093/brain/awp232. Epub 2009 Sep 17.

12.

Loss of dopamine phenotype among midbrain neurons in Lesch-Nyhan disease.

Göttle M, Prudente CN, Fu R, Sutcliffe D, Pang H, Cooper D, Veledar E, Glass JD, Gearing M, Visser JE, Jinnah HA.

Ann Neurol. 2014 Jul;76(1):95-107. doi: 10.1002/ana.24191. Epub 2014 Jun 20.

13.

Age-related cortical grey matter reductions in non-demented Down's syndrome adults determined by MRI with voxel-based morphometry.

Teipel SJ, Alexander GE, Schapiro MB, Möller HJ, Rapoport SI, Hampel H.

Brain. 2004 Apr;127(Pt 4):811-24. Epub 2004 Feb 25.

PMID:
14985261
14.

Changes in grey matter development in autism spectrum disorder.

Greimel E, Nehrkorn B, Schulte-Rüther M, Fink GR, Nickl-Jockschat T, Herpertz-Dahlmann B, Konrad K, Eickhoff SB.

Brain Struct Funct. 2013 Jul;218(4):929-42. doi: 10.1007/s00429-012-0439-9. Epub 2012 Jul 10.

16.

Cortical-basal ganglia imbalance in schizophrenia patients and unaffected first-degree relatives.

Oertel-Knöchel V, Knöchel C, Matura S, Rotarska-Jagiela A, Magerkurth J, Prvulovic D, Haenschel C, Hampel H, Linden DE.

Schizophr Res. 2012 Jul;138(2-3):120-7. doi: 10.1016/j.schres.2012.02.029. Epub 2012 Mar 29.

PMID:
22464726
17.

Brain benzodiazepine receptor binding and purine concentration in Lesch-Nyhan syndrome.

Kish SJ, Fox IH, Kapur BM, Lloyd K, Hornykiewicz O.

Brain Res. 1985 Jun 10;336(1):117-23.

PMID:
2988699
18.

Structural brain abnormalities in adolescents with autism spectrum disorder and patients with attention deficit/hyperactivity disorder.

Brieber S, Neufang S, Bruning N, Kamp-Becker I, Remschmidt H, Herpertz-Dahlmann B, Fink GR, Konrad K.

J Child Psychol Psychiatry. 2007 Dec;48(12):1251-8.

PMID:
18093031
19.

Decreased amino acids in various brain areas of patients with Lesch-Nyhan syndrome.

Rassin DK, Lloyd KG, Kelley WN, Fox I.

Neuropediatrics. 1982 Aug;13(3):130-4.

PMID:
7133331
20.

Cytosolic 5'-nucleotidase hyperactivity in erythrocytes of Lesch-Nyhan syndrome patients.

Pesi R, Micheli V, Jacomelli G, Peruzzi L, Camici M, Garcia-Gil M, Allegrini S, Tozzi MG.

Neuroreport. 2000 Jun 26;11(9):1827-31.

PMID:
10884027

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