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Results: 1 to 20 of 129

Similar articles for PubMed (Select 11222808)

1.

Clinical and pathologic abnormalities in a family with parkinsonism and parkin gene mutations.

van de Warrenburg BP, Lammens M, Lücking CB, Denèfle P, Wesseling P, Booij J, Praamstra P, Quinn N, Brice A, Horstink MW.

Neurology. 2001 Feb 27;56(4):555-7.

PMID:
11222808
2.

A Peruvian family with a novel PARK2 mutation: Clinical and pathological characteristics.

Cornejo-Olivas MR, Torres L, Mata IF, Mazzetti P, Rivas D, Cosentino C, Inca-Martinez M, Cuba JM, Zabetian CP, Leverenz JB.

Parkinsonism Relat Disord. 2015 May;21(5):444-8. doi: 10.1016/j.parkreldis.2015.01.005. Epub 2015 Jan 15.

PMID:
25817512
3.

Homozygous nonsense mutation in SYNJ1 associated with intractable epilepsy and tau pathology.

Dyment DA, Smith AC, Humphreys P, Schwartzentruber J, Beaulieu CL; FORGE Canada Consortium, Bulman DE, Majewski J, Woulfe J, Michaud J, Boycott KM.

Neurobiol Aging. 2015 Feb;36(2):1222.e1-5. doi: 10.1016/j.neurobiolaging.2014.09.005. Epub 2014 Sep 6.

PMID:
25316601
4.

Variable phenotypic expression in families with early-onset Parkinsonism due to PRKN mutations.

Karkheiran S, Krebs CE, Darvish H, Asadian M, Shahidi GA, Paisán-Ruiz C.

J Neurol. 2014 Jun;261(6):1223-6. doi: 10.1007/s00415-014-7360-5. Epub 2014 Apr 30. No abstract available.

PMID:
24781841
5.

Parkin disease: a clinicopathologic entity?

Doherty KM, Silveira-Moriyama L, Parkkinen L, Healy DG, Farrell M, Mencacci NE, Ahmed Z, Brett FM, Hardy J, Quinn N, Counihan TJ, Lynch T, Fox ZV, Revesz T, Lees AJ, Holton JL.

JAMA Neurol. 2013 May;70(5):571-9. doi: 10.1001/jamaneurol.2013.172.

6.

Lessons for Parkinson disease from the parkin genotype.

Ahlskog JE.

JAMA Neurol. 2013 May;70(5):551-2. doi: 10.1001/jamaneurol.2013.104. No abstract available.

PMID:
23459925
7.

PINK1 parkinsonism and Parkinson disease: distinguishable brain mitochondrial function and metabolomics.

Rango M, Arighi A, Marotta G, Ronchi D, Bresolin N.

Mitochondrion. 2013 Jan;13(1):59-61. doi: 10.1016/j.mito.2012.10.004. Epub 2012 Oct 10.

PMID:
23063710
8.

Pseudo-heterozygous rearrangement mutation of parkin.

Funayama M, Yoshino H, Li Y, Kusaka H, Tomiyama H, Hattori N.

Mov Disord. 2012 Apr;27(4):552-5. doi: 10.1002/mds.24906. Epub 2012 Feb 5.

PMID:
22308057
9.

[Pharmacogenetics focused on special phenotypes].

Sano A.

Nihon Shinkei Seishin Yakurigaku Zasshi. 2011 Aug;31(4):163-5. Review. Japanese.

PMID:
21941850
10.

PLA2G6 gene mutation in autosomal recessive early-onset parkinsonism in a Chinese cohort.

Shi CH, Tang BS, Wang L, Lv ZY, Wang J, Luo LZ, Shen L, Jiang H, Yan XX, Pan Q, Xia K, Guo JF.

Neurology. 2011 Jul 5;77(1):75-81. doi: 10.1212/WNL.0b013e318221acd3. Epub 2011 Jun 22.

PMID:
21700586
11.

Loss of nuclear activity of the FBXO7 protein in patients with parkinsonian-pyramidal syndrome (PARK15).

Zhao T, De Graaff E, Breedveld GJ, Loda A, Severijnen LA, Wouters CH, Verheijen FW, Dekker MC, Montagna P, Willemsen R, Oostra BA, Bonifati V.

PLoS One. 2011 Feb 11;6(2):e16983. doi: 10.1371/journal.pone.0016983.

12.

Recessively inherited parkinsonism: effect of ATP13A2 mutations on the clinical and neuroimaging phenotype.

Brüggemann N, Hagenah J, Reetz K, Schmidt A, Kasten M, Buchmann I, Eckerle S, Bähre M, Münchau A, Djarmati A, van der Vegt J, Siebner H, Binkofski F, Ramirez A, Behrens MI, Klein C.

Arch Neurol. 2010 Nov;67(11):1357-63. doi: 10.1001/archneurol.2010.281.

PMID:
21060012
13.

PINK1-linked parkinsonism is associated with Lewy body pathology.

Samaranch L, Lorenzo-Betancor O, Arbelo JM, Ferrer I, Lorenzo E, Irigoyen J, Pastor MA, Marrero C, Isla C, Herrera-Henriquez J, Pastor P.

Brain. 2010 Apr;133(Pt 4):1128-42. doi: 10.1093/brain/awq051. Epub 2010 Mar 30.

14.

Amiodarone-induced liver cirrhosis and parkinsonism: a case report.

Ishida S, Sugino M, Hosokawa T, Sato T, Furutama D, Fukuda A, Kimura F, Kuwabara H, Shibayama Y, Hanafusa T.

Clin Neuropathol. 2010 Mar-Apr;29(2):84-8.

PMID:
20175957
15.

Roll on genetics of PARK and Parkinsonism in the developing world.

Kalaria RN, Akinyemi R.

J Neurol Neurosurg Psychiatry. 2010 Feb;81(2):128. doi: 10.1136/jnnp.2008.162834. No abstract available.

PMID:
20145023
16.

Naturally- and experimentally-designed restorations of the Parkin gene deficit in autosomal recessive juvenile parkinsonism.

Asai H, Hirano M, Kiriyama T, Ikeda M, Ueno S.

Biochem Biophys Res Commun. 2010 Jan 1;391(1):800-5. doi: 10.1016/j.bbrc.2009.11.141. Epub 2009 Nov 27.

PMID:
19945426
17.

Mitochondrial pathology in muscle of a patient with a novel parkin mutation.

Hanagasi HA, Serdaroglu P, Ozansoy M, Basak N, Tasli H, Emre M.

Int J Neurosci. 2009;119(10):1572-83.

PMID:
19922375
18.

Dopamine dysregulation syndrome in a patient with early onset Parkinsonism and Parkin gene mutations.

Sammler EM, Swingler RJ, Stuart A, Muqit M.

Mov Disord. 2009 Dec 15;24(16):2442-3. doi: 10.1002/mds.22859. No abstract available.

PMID:
19891003
19.

Genetic screening reveals high frequency of PARK2 mutations and reduced Parkin expression conferring risk for Parkinsonism in North West India.

Vinish M, Prabhakar S, Khullar M, Verma I, Anand A.

J Neurol Neurosurg Psychiatry. 2010 Feb;81(2):166-70. doi: 10.1136/jnnp.2008.157255. Epub 2009 Sep 3.

PMID:
19734163
20.

Alpha-synuclein pathology and Parkinsonism associated with POLG1 mutations and multiple mitochondrial DNA deletions.

Betts-Henderson J, Jaros E, Krishnan KJ, Perry RH, Reeve AK, Schaefer AM, Taylor RW, Turnbull DM.

Neuropathol Appl Neurobiol. 2009 Feb;35(1):120-4. doi: 10.1111/j.1365-2990.2008.00981.x. No abstract available.

PMID:
19187065
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