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Items: 1 to 20 of 91

1.

Mutation in ADORA1 identified as likely cause of early-onset parkinsonism and cognitive dysfunction.

Jaberi E, Rohani M, Shahidi GA, Nafissi S, Arefian E, Soleimani M, Moghadam A, Arzenani MK, Keramatian F, Klotzle B, Fan JB, Turk C, Steemers F, Elahi E.

Mov Disord. 2016 Jul;31(7):1004-11. doi: 10.1002/mds.26627. Epub 2016 May 2. Review.

PMID:
27134041
2.

PTRHD1 (C2orf79) mutations lead to autosomal-recessive intellectual disability and parkinsonism.

Khodadadi H, Azcona LJ, Aghamollaii V, Omrani MD, Garshasbi M, Taghavi S, Tafakhori A, Shahidi GA, Jamshidi J, Darvish H, Paisán-Ruiz C.

Mov Disord. 2017 Feb;32(2):287-291. doi: 10.1002/mds.26824. Epub 2016 Oct 18.

3.

The Sac1 domain of SYNJ1 identified mutated in a family with early-onset progressive Parkinsonism with generalized seizures.

Krebs CE, Karkheiran S, Powell JC, Cao M, Makarov V, Darvish H, Di Paolo G, Walker RH, Shahidi GA, Buxbaum JD, De Camilli P, Yue Z, Paisán-Ruiz C.

Hum Mutat. 2013 Sep;34(9):1200-7. doi: 10.1002/humu.22372. Epub 2013 Jul 19.

4.

ADORA1 mutations are not a common cause of Parkinson's disease and dementia with Lewy bodies.

Blauwendraat C, Nalls MA, Federoff M, Pletnikova O, Ding J, Letson C, Geiger JT, Gibbs JR, Hernandez DG, Troncoso JC, Simón-Sánchez J, Scholz SW; International Parkinson's Disease Genomics Consortium.

Mov Disord. 2017 Feb;32(2):298-299. doi: 10.1002/mds.26886. Epub 2016 Dec 17. No abstract available.

5.

Genetic Identification Is Critical for the Diagnosis of Parkinsonism: A Chinese Pedigree with Early Onset of Parkinsonism.

Yang Y, Tang BS, Weng L, Li N, Shen L, Wang J, Zuo CT, Yan XX, Xia K, Guo JF.

PLoS One. 2015 Aug 21;10(8):e0136245. doi: 10.1371/journal.pone.0136245. eCollection 2015.

6.

Mutation in the SYNJ1 gene associated with autosomal recessive, early-onset Parkinsonism.

Quadri M, Fang M, Picillo M, Olgiati S, Breedveld GJ, Graafland J, Wu B, Xu F, Erro R, Amboni M, Pappatà S, Quarantelli M, Annesi G, Quattrone A, Chien HF, Barbosa ER; International Parkinsonism Genetics Network, Oostra BA, Barone P, Wang J, Bonifati V.

Hum Mutat. 2013 Sep;34(9):1208-15. doi: 10.1002/humu.22373. Epub 2013 Aug 6.

PMID:
23804577
7.

A homozygous parkin p.G284R mutation in a Chinese family with autosomal recessive juvenile parkinsonism.

Chen H, Huang X, Yuan L, Xia H, Xu H, Yang Y, Zheng W, Deng H.

Neurosci Lett. 2016 Jun 15;624:100-4. doi: 10.1016/j.neulet.2016.05.011. Epub 2016 May 10.

PMID:
27177722
8.

Excessive penile norepinephrine level underlies impaired erectile function in adenosine A1 receptor deficient mice.

Ning C, Qi L, Wen J, Zhang Y, Zhang W, Wang W, Blackburn M, Kellems R, Xia Y.

J Sex Med. 2012 Oct;9(10):2552-61. doi: 10.1111/j.1743-6109.2012.02896.x. Epub 2012 Aug 2.

PMID:
22862844
9.

CHCHD2 mutations in autosomal dominant late-onset Parkinson's disease: a genome-wide linkage and sequencing study.

Funayama M, Ohe K, Amo T, Furuya N, Yamaguchi J, Saiki S, Li Y, Ogaki K, Ando M, Yoshino H, Tomiyama H, Nishioka K, Hasegawa K, Saiki H, Satake W, Mogushi K, Sasaki R, Kokubo Y, Kuzuhara S, Toda T, Mizuno Y, Uchiyama Y, Ohno K, Hattori N.

Lancet Neurol. 2015 Mar;14(3):274-82. doi: 10.1016/S1474-4422(14)70266-2. Epub 2015 Feb 4.

PMID:
25662902
10.

Association analysis of adenosine A1 receptor gene (ADORA1) polymorphisms with schizophrenia in a Japanese population.

Gotoh L, Mitsuyasu H, Kobayashi Y, Oribe N, Takata A, Ninomiya H, Stanton VP Jr, Springett GM, Kawasaki H, Kanba S.

Psychiatr Genet. 2009 Dec;19(6):328-35. doi: 10.1097/YPG.0b013e3283328e26.

PMID:
19820430
11.

Significance of the parkin and PINK1 gene in Jordanian families with incidences of young-onset and juvenile parkinsonism.

Myhre R, Steinkjer S, Stormyr A, Nilsen GL, Abu Zayyad H, Horany K, Nusier MK, Klungland H.

BMC Neurol. 2008 Dec 16;8:47. doi: 10.1186/1471-2377-8-47.

12.

A novel RAB39B gene mutation in X-linked juvenile parkinsonism with basal ganglia calcification.

Shi CH, Zhang SY, Yang ZH, Yang J, Shang DD, Mao CY, Liu H, Hou HM, Shi MM, Wu J, Xu YM.

Mov Disord. 2016 Dec;31(12):1905-1909. doi: 10.1002/mds.26828.

PMID:
27943471
13.

Expanding the phenotype of SCA19/22: Parkinsonism, cognitive impairment and epilepsy.

Huin V, Strubi-Vuillaume I, Dujardin K, Brion M, Delliaux M, Dellacherie D, Cuvellier JC, Cuisset JM, Riquet A, Moreau C, Defebvre L, Sablonnière B, Devos D.

Parkinsonism Relat Disord. 2017 Dec;45:85-89. doi: 10.1016/j.parkreldis.2017.09.014. Epub 2017 Sep 19.

PMID:
28947073
14.

Differential Expression of Adenosine P1 Receptor ADORA1 and ADORA2A Associated with Glioma Development and Tumor-Associated Epilepsy.

Huang J, Chen MN, Du J, Liu H, He YJ, Li GL, Li SY, Liu WP, Long XY.

Neurochem Res. 2016 Jul;41(7):1774-83. doi: 10.1007/s11064-016-1893-1. Epub 2016 Apr 2.

PMID:
27038930
15.

Association of adenosine receptor gene polymorphisms and in vivo adenosine A1 receptor binding in the human brain.

Hohoff C, Garibotto V, Elmenhorst D, Baffa A, Kroll T, Hoffmann A, Schwarte K, Zhang W, Arolt V, Deckert J, Bauer A.

Neuropsychopharmacology. 2014 Dec;39(13):2989-99. doi: 10.1038/npp.2014.150. Epub 2014 Jun 19.

16.

Association of ADORA1 rs2228079 and ADORA2A rs5751876 Polymorphisms with Gilles de la Tourette Syndrome in the Polish Population.

Janik P, Berdyński M, Safranow K, Żekanowski C.

PLoS One. 2015 Aug 28;10(8):e0136754. doi: 10.1371/journal.pone.0136754. eCollection 2015.

17.

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.

PMID:
20356854
18.

Familial parkinsonism with synuclein pathology: clinical and PET studies of A30P mutation carriers.

Krüger R, Kuhn W, Leenders KL, Sprengelmeyer R, Müller T, Woitalla D, Portman AT, Maguire RP, Veenma L, Schröder U, Schöls L, Epplen JT, Riess O, Przuntek H.

Neurology. 2001 May 22;56(10):1355-62.

PMID:
11376188
19.

Identification of a mutation in LARS as a novel cause of infantile hepatopathy.

Casey JP, McGettigan P, Lynam-Lennon N, McDermott M, Regan R, Conroy J, Bourke B, O'Sullivan J, Crushell E, Lynch S, Ennis S.

Mol Genet Metab. 2012 Jul;106(3):351-8. doi: 10.1016/j.ymgme.2012.04.017. Epub 2012 Apr 26.

PMID:
22607940
20.

Familial multisystem degeneration with parkinsonism associated with the 11778 mitochondrial DNA mutation.

Simon DK, Pulst SM, Sutton JP, Browne SE, Beal MF, Johns DR.

Neurology. 1999 Nov 10;53(8):1787-93.

PMID:
10563629

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