1.220 makale bulundu

Subtalamik çekirdek stimülasyonu Parkinsonizm ve LRRK2 mutasyonu olan hastalarda etkilidir.

Subthalamic nucleus stimulation is efficacious in patients with Parkinsonism and LRRK2 mutations.

Schüpbach M, Lohmann E, Anheim M, Lesage S, Czernecki V, Yaici S, Worbe Y, Charles P, Welter ML, Pollak P, Dürr A, Agid Y, Brice A.

Mov Disord · 2007-01-01

DOI: 10.1002/mds.21178PMID: 17080443

Küresel dağılım ve azalmış penetrans: İrlanda Parkinson hastalığında Lrrk2 R1441C türemiştir.

Global distribution and reduced penetrance: Lrrk2 R1441C in an Irish Parkinson's disease kindred.

Gosal D, Lynch T, Ross OA, Haugarvoll K, Farrer MJ, Gibson JM.

Mov Disord · 2007-01-01

DOI: 10.1002/mds.21200PMID: 17089395

Lrrk2'deki R1514Q ikamesi patojenik Parkinson hastalığı mutasyonu değildir.

R1514Q substitution in Lrrk2 is not a pathogenic Parkinson's disease mutation.

Nichols WC, Marek DK, Pauciulo MW, Pankratz N, Halter CA, Rudolph A, Shults CW, Wojcieszek J, Foroud T, Parkinson Study Group - PROGENI Investigators.

Mov Disord · 2007-01-01

DOI: 10.1002/mds.21233PMID: 17149721

Parkinson hastalığının LRRK2 Ile1371Val mutasyonu ile ilişkili nöropatolojisi.

Neuropathology of Parkinson's disease associated with the LRRK2 Ile1371Val mutation.

Giordana MT, D'Agostino C, Albani G, Mauro A, Di Fonzo A, Antonini A, Bonifati V.

Mov Disord · 2007-01-01

DOI: 10.1002/mds.21281PMID: 17149743

Yunan sporadik ve otozomal dominant Parkinson hastalığında SNCA ve LRRK2 mutasyonları için tarama: iki roman LRRK2 varyantının tanımlanması.

Screening for SNCA and LRRK2 mutations in Greek sporadic and autosomal dominant Parkinson's disease: identification of two novel LRRK2 variants.

Xiromerisiou G, Hadjigeorgiou GM, Gourbali V, Johnson J, Papakonstantinou I, Papadimitriou A, Singleton AB.

Eur J Neurol · 2007-01-01

DOI: 10.1111/j.1468-1331.2006.01551.xPMID: 17222106

Lrrk2 G2019S için tarama ve Tunus ve Kuzey Amerika Kafkasya Parkinson hastalık ailelerinin klinik karşılaştırması.

Screening for Lrrk2 G2019S and clinical comparison of Tunisian and North American Caucasian Parkinson's disease families.

Ishihara L, Gibson RA, Warren L, Amouri R, Lyons K, Wielinski C, Hunter C, Swartz JE, Elango R, Akkari PA, Leppert D, Surh L, Reeves KH, Thomas S, Ragone L, Hattori N, Pahwa R, Jankovic J, Nance M, Freeman A, Gouider-Khouja N, Kefi M, Zouari M, Ben Sassi S, Ben Yahmed S, El Euch-Fayeche G, Middleton L, Burn DJ, Watts RL, Hentati F.

Mov Disord · 2007-01-01

DOI: 10.1002/mds.21180PMID: 17115391

Norveç'te LRRK2 ve Parkinson hastalığı.

LRRK2 and Parkinson's disease in Norway.

Toft M, Haugarvoll K, Ross OA, Farrer MJ, Aasly JO.

Acta Neurol Scand Suppl · 2007-01-01

DOI: 10.1111/j.1600-0404.2007.00852.xPMID: 17419834

Parkinson hastalığı olan kardeşlerde LRRK2 G2019S mutasyonunun sıklığı.

Frequency of the LRRK2 G2019S mutation in siblings with Parkinson's disease.

Lesage S, Leclere L, Lohmann E, Borg M, Ruberg M, Dürr A, Brice A, French Parkinson's Disease Genetics Study Group.

Neurodegener Dis · 2007-01-01

DOI: 10.1159/000101844PMID: 17596714

[A PARK8 form of Parkinson's disease: a mutational analysis of the LRRK2 gene in Russian population].

Shadrina MI, Illarioshkin SN, Bagyeva GKh, Bespalova EV, Zagorodskaia TB, Slominskiĭ PA, Markova ED, Kliushnikov SA, Limborskaia SA, Ivanova-Smolenskaia IA.

Zh Nevrol Psikhiatr Im S S Korsakova · 2007-01-01

PMID: 18379513

Rusya'da ailesel ve sporadik Parkinson hastalığında G2019S LRRK2 mutasyonu.

G2019S LRRK2 mutation in familial and sporadic Parkinson's disease in Russia.

Pchelina SN, Yakimovskii AF, Ivanova ON, Emelianov AK, Zakharchuk AH, Schwarzman AL.

Mov Disord · 2006-12-01

DOI: 10.1002/mds.21134PMID: 17044089

G2019S dışındaki LRRK2'deki mutasyonlar, Kuzey Amerika merkezli bir ailesel Parkinson hastalığında nadirdir.

Mutations in LRRK2 other than G2019S are rare in a north American-based sample of familial Parkinson's disease.

Pankratz N, Pauciulo MW, Elsaesser VE, Marek DK, Halter CA, Rudolph A, Shults CW, Foroud T, Nichols WC, Parkinson Study Group-PROGENI Investigators.

Mov Disord · 2006-12-01

DOI: 10.1002/mds.21162PMID: 17078063

Digenik parkinsonizm: PRKN ve LRRK2'nin sinerjik etkilerinin araştırılması.

Digenic parkinsonism: investigation of the synergistic effects of PRKN and LRRK2.

Dächsel JC, Mata IF, Ross OA, Taylor JP, Lincoln SJ, Hinkle KM, Huerta C, Ribacoba R, Blazquez M, Alvarez V, Farrer MJ.

Neurosci Lett · 2006-12-01

DOI: 10.1016/j.neulet.2006.06.068PMID: 17095157