Results 81 to 90 of about 2,680 (134)

Detection of ER Stress in iPSC-Derived Neurons Carrying the p.N370S Mutation in the GBA1 Gene. [PDF]

Biomedicines
Yarkova ES, Grigor'eva EV, Medvedev SP, Tarasevich DA, Pavlova SV, Valetdinova KR, Minina JM, Zakian SM, Malakhova AA.   +8 more
europepmc   +1 more source

Patient-specific midbrain organoids with CRISPR correction recapitulate neuronopathic Gaucher disease phenotypes and enable evaluation of novel therapies. [PDF]

Elife
Lin Y, Liou B, Fannin V, Adler S, Mayhew CN, Hammonds JE, Hu YC, Tchieu J, Zhang W, Zhao X, Beres RL, Setchell KDR, Kaynak A, Qi X, Feldman RA, Sun Y.   +15 more
europepmc   +1 more source

Analyzing the 'bradykinesia complex' in GBA1-associated Parkinson's disease: A series of three cases. [PDF]

Clin Park Relat Disord
De Riggi M, Birreci D, Martini A, Aloisio S, Angelini L, Grandolfo AS, Bologna M.   +6 more
europepmc   +1 more source

mTOR Inhibition Drives Mutation-Specific Remodeling of Lysosomal and Autophagic Pathways and GCase Activity in PBMC-Derived Macrophages from Patients with GBA1-Associated Parkinson's Disease. [PDF]

Curr Issues Mol Biol
Bezrukova A, Basharova K, Emelyanov A, Lavrinova A, Krapova A, Galkina E, Skudarnova E, Baydakova G, Miliukhina I, Zakharova E, Pchelina S, Usenko T.   +11 more
europepmc   +1 more source

Genotype-phenotype correlations and mutation spectrum of GBA1 in Gaucher disease across Asian populations: a systematic review. [PDF]

Hum Genomics
Konarbayeva A, Atavliyeva S, Auganova D, Baduanova S, Tarlykov P.   +4 more
europepmc   +1 more source

Family studies in Gaucher Disease: a key resource for early diagnosis and personalized treatment strategies. [PDF]

Orphanet J Rare Dis
Vinci M, Giacomarra M, D'Errico A, Fischetto R, Palumbo G, Tartaglione I, Tirelli P, Messina E, Russo M, Francofonte D, Colomba P, Duro G, Zizzo C.   +12 more
europepmc   +1 more source

LRRK2 and GBA1 in Lewy body diseases: neuropathological subtypes at opposite ends of a spectrum? [PDF]

Mol Neurodegener
Jha V, Kalia LV.
europepmc   +1 more source

Microbiome signature of Parkinson's disease in healthy and genetically at-risk individuals. [PDF]

Nat Med
Menozzi E, Ren Y, Geiger M, Macnaughtan J, Avenali M, Toffoli M, Gilles M, Calabrese R, Mitrotti P, Gallo L, Famechon A, Del Pozo SL, Mezabrovschi R, Koletsi S, Loefflad N, Yalkic S, Limbachiya N, Clasen F, Yildirim S, Shoaie S, Blottière H, Morabito C, David A, Quinquis B, Pons N, Le Chatelier E, Valzania F, Cavallieri F, Fioravanti V, Toschi G, Blandini F, Almeida M, Ehrlich SD, Meslier V, Schapira AHV.   +34 more
europepmc   +1 more source

Genetic Variants and Clinical Characteristics of Young-Onset Parkinson's Disease in the Hakka Population of Western Fujian. [PDF]

Brain Behav
Pan LY, Guo F, Zheng C, Hu XH, Chen YG, Lin RR.   +5 more
europepmc   +1 more source

Large-scale genetic characterization of Parkinson's disease in the African and African admixed populations. [PDF]

Brain
Akçimen F, Paquette K, Wild Crea P, Step K, Waldo E, Koretsky MJ, Saffie-Awad P, Achoru C, Taiwo F, Ozomma S, Onwuegbuzie G, Khani M, Grant S, Owolabi L, Okereke C, Oshinaike O, Iwuozo E, Akerman SC, Lee PS, Oyakhire S, Osemwegie N, Daida K, Abubakar S, Olusanya A, Isayan M, Alvarez C, Traurig R, Ogunmodede A, Samuel S, Makarious MB, Sa'ad F, Olanigan R, Levine K, Ogbimi EM, Vitale D, Odiase F, Ojini F, Odeniyi O, Fang ZH, Obianozie N, Hall DA, Nwazor E, Xie T, Nwaokorie F, Padmanaban M, Nwani P, Shamim EA, Nnama A, Standaert D, Komolafe M, Dean M, Osaigbovo G, Disbrow E, Ishola I, Rawls A, Imarhiagbe F, Chandra S, Erameh C, Hinson V, Louie N, Idowu A, Solle J, Norris SA, Ibrahim A, Kilbane C, Sukumar G, Shulman LM, Ezuduemoih D, Staisch J, Breaux S, Dalgard C, Foster ER, Bello A, Ameri A, Real R, Ikwenu E, Morris HR, Anyanwu R, Furr Stimming E, Billingsley K, Alaofin W, Alvarez Jerez P, Agabi O, Hernandez DG, Akinyemi R, Arepalli S, Malik L, Owolabi R, Nyandaiti Y, Leonard HL, Wahab K, Abiodun O, Hernandez CF, Abdulai F, Iwaki H, Bardien S, Klein C, Hardy J, Houlden H, Galvelis KG, Nalls MA, Dahodwala N, Aamodt W, Hill E, Espay A, Factor S, Branson C, Blauwendraat C, Singleton AB, Ojo O, Chahine LM, Okubadejo N, Bandres-Ciga S.   +112 more
europepmc   +1 more source