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Items: 1 to 20 of 66

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. Review.

PMID:
27134041
2.

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.

3.

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.

PMID:
22862844
4.

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. 2016 Oct 18. doi: 10.1002/mds.26824. [Epub ahead of print]

PMID:
27753167
5.

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
6.

A novel splice-site mutation in ALS2 establishes the diagnosis of juvenile amyotrophic lateral sclerosis in a family with early onset anarthria and generalized dystonias.

Siddiqi S, Foo JN, Vu A, Azim S, Silver DL, Mansoor A, Tay SK, Abbasi S, Hashmi AH, Janjua J, Khalid S, Tai ES, Yeo GW, Khor CC.

PLoS One. 2014 Dec 4;9(12):e113258. doi: 10.1371/journal.pone.0113258.

7.

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.

PMID:
22607940
8.

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.

PMID:
25662902
9.

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.

10.

Exome sequencing identifies a novel CEACAM16 mutation associated with autosomal dominant nonsyndromic hearing loss DFNA4B in a Chinese family.

Wang H, Wang X, He C, Li H, Qing J, Grati M, Hu Z, Li J, Hu Y, Xia K, Mei L, Wang X, Yu J, Chen H, Jiang L, Liu Y, Men M, Zhang H, Guan L, Xiao J, Zhang J, Liu X, Feng Y.

J Hum Genet. 2015 Mar;60(3):119-26. doi: 10.1038/jhg.2014.114.

11.

Homozygosity mapping and exome sequencing reveal GATAD1 mutation in autosomal recessive dilated cardiomyopathy.

Theis JL, Sharpe KM, Matsumoto ME, Chai HS, Nair AA, Theis JD, de Andrade M, Wieben ED, Michels VV, Olson TM.

Circ Cardiovasc Genet. 2011 Dec;4(6):585-94. doi: 10.1161/CIRCGENETICS.111.961052.

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.

Heterozygous de-novo mutations in ATP1A3 in patients with alternating hemiplegia of childhood: a whole-exome sequencing gene-identification study.

Rosewich H, Thiele H, Ohlenbusch A, Maschke U, Altmüller J, Frommolt P, Zirn B, Ebinger F, Siemes H, Nürnberg P, Brockmann K, Gärtner J.

Lancet Neurol. 2012 Sep;11(9):764-73. doi: 10.1016/S1474-4422(12)70182-5.

PMID:
22850527
14.

Exome-sequencing confirms DNAJC5 mutations as cause of adult neuronal ceroid-lipofuscinosis.

Benitez BA, Alvarado D, Cai Y, Mayo K, Chakraverty S, Norton J, Morris JC, Sands MS, Goate A, Cruchaga C.

PLoS One. 2011;6(11):e26741. doi: 10.1371/journal.pone.0026741.

15.

Homozygosity mapping and whole exome sequencing reveal a novel homozygous COL18A1 mutation causing Knobloch syndrome.

Haghighi A, Tiwari A, Piri N, Nürnberg G, Saleh-Gohari N, Haghighi A, Neidhardt J, Nürnberg P, Berger W.

PLoS One. 2014 Nov 13;9(11):e112747. doi: 10.1371/journal.pone.0112747.

16.

An exome study of Parkinson's disease in Sardinia, a Mediterranean genetic isolate.

Quadri M, Yang X, Cossu G, Olgiati S, Saddi VM, Breedveld GJ, Ouyang L, Hu J, Xu N, Graafland J, Ricchi V, Murgia D, Guedes LC, Mariani C, Marti MJ, Tarantino P, Asselta R, Valldeoriola F, Gagliardi M, Pezzoli G, Ezquerra M, Quattrone A, Ferreira J, Annesi G, Goldwurm S, Tolosa E, Oostra BA, Melis M, Wang J, Bonifati V.

Neurogenetics. 2015 Jan;16(1):55-64. doi: 10.1007/s10048-014-0425-x.

PMID:
25294124
17.

Exome sequencing reveals a novel Moroccan founder mutation in SLC19A3 as a new cause of early-childhood fatal Leigh syndrome.

Gerards M, Kamps R, van Oevelen J, Boesten I, Jongen E, de Koning B, Scholte HR, de Angst I, Schoonderwoerd K, Sefiani A, Ratbi I, Coppieters W, Karim L, de Coo R, van den Bosch B, Smeets H.

Brain. 2013 Mar;136(Pt 3):882-90. doi: 10.1093/brain/awt013.

PMID:
23423671
18.

Identification of p.Gln858* in ATP13A2 in two EOPD patients and presentation of their clinical features.

Malakouti-Nejad M, Shahidi GA, Rohani M, Shojaee SM, Hashemi M, Klotzle B, Fan JB, Elahi E.

Neurosci Lett. 2014 Aug 8;577:106-11. doi: 10.1016/j.neulet.2014.06.023.

PMID:
24949580
19.

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.

PMID:
27038930
20.

Maternal uniparental isodisomy of chromosome 6 reveals a TULP1 mutation as a novel cause of cone dysfunction.

Roosing S, van den Born LI, Hoyng CB, Thiadens AA, de Baere E, Collin RW, Koenekoop RK, Leroy BP, van Moll-Ramirez N, Venselaar H, Riemslag FC, Cremers FP, Klaver CC, den Hollander AI.

Ophthalmology. 2013 Jun;120(6):1239-46. doi: 10.1016/j.ophtha.2012.12.005.

PMID:
23499059
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