430 makale bulundu

Metabolik sendrom LRRK2 ve GBA ile ilişkili Parkinson hastalığının fenotipini etkilemez.

Metabolic syndrome does not influence the phenotype of LRRK2 and GBA related Parkinson's disease.

Thaler A, Shenhar-Tsarfaty S, Shaked Y, Gurevich T, Omer N, Bar-Shira A, Gana-Weisz M, Goldstein O, Kestenbaum M, Cedarbaum JM, Orr-Urtreger A, Giladi N, Mirelman A.

Sci Rep · 2020-06-09

DOI: 10.1038/s41598-020-66319-9PMID: 32518334

Parkinson hastalığı hastalarında GBA mutasyonları olan bilateral subtalamik derin beyin stimülasyonundan sonra erken bilişsel düşüş.

Early cognitive decline after bilateral subthalamic deep brain stimulation in Parkinson's disease patients with GBA mutations.

Mangone G, Bekadar S, Cormier-Dequaire F, Tahiri K, Welaratne A, Czernecki V, Pineau F, Karachi C, Castrioto A, Durif F, Tranchant C, Devos D, Thobois S, Meissner WG, Navarro MS, Cornu P, Lesage S, Brice A, Welter ML, Corvol JC, contributors/investigators.

Parkinsonism Relat Disord · 2020-06-09

DOI: 10.1016/j.parkreldis.2020.04.002PMID: 32866938

Gaucher Hastalığı ve ⁇ i>GBA1 ⁇ /i>-Bağımlı Parkinson Hastalığının Tedavisi için Küçük Molekül Chaperones.

Small Molecule Chaperones for the Treatment of Gaucher Disease and <i>GBA1</i>-Associated Parkinson Disease.

Han TU, Sam R, Sidransky E.

Front Cell Dev Biol · 2020-05-19

DOI: 10.3389/fcell.2020.00271PMID: 32509770

LRRK2 ve GBA Varyantları Parkinson Hastalığına Özel Metabolik Ağlarda Belirgin Etkiler Sürdürür.

LRRK2 and GBA Variants Exert Distinct Influences on Parkinson's Disease-Specific Metabolic Networks.

Schindlbeck KA, Vo A, Nguyen N, Tang CC, Niethammer M, Dhawan V, Brandt V, Saunders-Pullman R, Bressman SB, Eidelberg D.

Cereb Cortex · 2020-05-01

DOI: 10.1093/cercor/bhz280PMID: 31813991

Can Leucine-Rich Repeat Kinase 2 Inhibition Benefit GBA-Parkinson's Disease?

Bonet-Ponce PhD L, Cookson MR.

Mov Disord · 2020-05-01

DOI: 10.1002/mds.28029PMID: 32415718

G2019S Mutasyonunun LRRK2 Geninde GBA Parkinson Hastalığı Üzerinde Olası Bir Değiştirici Etkisi.

A Possible Modifying Effect of the G2019S Mutation in the LRRK2 Gene on GBA Parkinson's Disease.

Omer N, Giladi N, Gurevich T, Bar-Shira A, Gana-Weisz M, Goldstein O, Kestenbaum M, Cedarbaum JM, Orr-Urtreger A, Mirelman A, Thaler A.

Mov Disord · 2020-04-30

DOI: 10.1002/mds.28066PMID: 32353202

&lt;i&gt;GBA1&lt;/i&gt; Parkinson hastalığında uzun süreli klinik ilerleme ve mortalite üzerinde varyantlar.

Impact of &lt;i&gt;GBA1&lt;/i&gt; variants on long-term clinical progression and mortality in incident Parkinson's disease.

Stoker TB, Camacho M, Winder-Rhodes S, Liu G, Scherzer CR, Foltynie T, Evans J, Breen DP, Barker RA, Williams-Gray CH.

J Neurol Neurosurg Psychiatry · 2020-04-17

DOI: 10.1136/jnnp-2020-322857PMID: 32303560

&lt;i&gt;SNCA&lt;/i&gt;'deki yaygın bir polimorfizm, &lt;i&gt;GBA&lt;/i&gt;-Parkinson hastalığı'ndaki hızlandırılmış motor düşüşü ile ilişkilidir.

A common polymorphism in &lt;i&gt;SNCA&lt;/i&gt; is associated with accelerated motor decline in &lt;i&gt;GBA&lt;/i&gt;-Parkinson's disease.

Stoker TB, Camacho M, Winder-Rhodes S, Liu G, Scherzer CR, Foltynie T, Barker RA, Williams-Gray CH.

J Neurol Neurosurg Psychiatry · 2020-04-02

DOI: 10.1136/jnnp-2019-322210PMID: 32241921

Klinik ve Dopamin Transporter Leucine Zengin Tekrar Kinaz 2 (LRRK2) ve Glukosilseramidaz Beta (GBA) Parkinson Hastalığı Parkinson İlerleme İşaretleyicileri Girişimi Katılımcılar: Bir Kesitlerarası Çalışma.

Clinical and Dopamine Transporter Imaging Characteristics of Leucine Rich Repeat Kinase 2 (LRRK2) and Glucosylceramidase Beta (GBA) Parkinson's Disease Participants in the Parkinson's Progression Markers Initiative: A Cross-Sectional Study.

Simuni T, Brumm MC, Uribe L, Caspell-Garcia C, Coffey CS, Siderowf A, Alcalay RN, Trojanowski JQ, Shaw LM, Seibyl J, Singleton A, Toga AW, Galasko D, Foroud T, Nudelman K, Tosun-Turgut D, Poston K, Weintraub D, Mollenhauer B, Tanner CM, Kieburtz K, Chahine LM, Reimer A, Hutten S, Bressman S, Marek K, Parkinson's Progression Markers Initiative Investigators.

Mov Disord · 2020-02-19

DOI: 10.1002/mds.27989PMID: 32073681

Parkinson Hastalığı Olan Hastalarda Plazma Sitokinleri Profili GBA Genindeki Mutasyonlarla İlişkilidir.

Plasma Cytokines Profile in Patients with Parkinson's Disease Associated with Mutations in GBA Gene.

Miliukhina IV, Usenko TS, Senkevich KA, Nikolaev MA, Timofeeva AA, Agapova EA, Semenov AV, Lubimova NE, Totolyan AA, Pchelina SN.

Bull Exp Biol Med · 2020-02-01

DOI: 10.1007/s10517-020-04723-xPMID: 32146630

GBA'da risk ve yaşın başlangıcındaki genetik değiştiriciler Parkinson hastalığı ve Lewy vücut demansı ile ilişkilidir.

Genetic modifiers of risk and age at onset in GBA associated Parkinson's disease and Lewy body dementia.

Blauwendraat C, Reed X, Krohn L, Heilbron K, Bandres-Ciga S, Tan M, Gibbs JR, Hernandez DG, Kumaran R, Langston R, Langston R, Bonet-Ponce L, Alcalay RN, Hassin-Baer S, Greenbaum L, Iwaki H, Leonard HL, Grenn FP, Ruskey JA, Sabir M, Ahmed S, Makarious MB, Pihlstrøm L, Toft M, van Hilten JJ, Marinus J, Schulte C, Brockmann K, Sharma M, Siitonen A, Majamaa K, Eerola-Rautio J, Tienari PJ, 23andMe Research Team, Pantelyat A, Hillis AE, Dawson TM, Rosenthal LS, Albert MS, Resnick SM, Ferrucci L, Morris CM, Pletnikova O, Troncoso J, Grosset D, Lesage S, Corvol JC, Brice A, Noyce AJ, Masliah E, Wood N, Hardy J, Shulman LM, Jankovic J, Shulman JM, Heutink P, Gasser T, Cannon P, Scholz SW, Morris H, Cookson MR, Nalls MA, Gan-Or Z, Singleton AB.

Brain · 2020-01-01

DOI: 10.1093/brain/awz350PMID: 31755958

Ashkenazi Yahudi Hastalar Arasında Parkinson Hastalığının Başlangıcında Yaş: Çevresel Faktörlerin Katkısı, LRRK2 p.G2019S ve GBA p.N370S Mutasyonları.

Age at Onset of Parkinson's Disease Among Ashkenazi Jewish Patients: Contribution of Environmental Factors, LRRK2 p.G2019S and GBA p.N370S Mutations.

Yahalom G, Rigbi A, Israeli-Korn S, Krohn L, Rudakou U, Ruskey JA, Benshimol L, Tsafnat T, Gan-Or Z, Hassin-Baer S, Greenbaum L.

J Parkinsons Dis · 2020-01-01

DOI: 10.3233/jpd-191829PMID: 32310186