Results 131 to 140 of about 4,309 (206)

Additional file 3 of GBA1 as a risk gene for osteoporosis in the specific populations and its role in the development of Gaucher disease

Additional file 3: Characteristics of the patients with Gaucher disease in this study.
Wang, Chung-Hsing, Huang, Yu‐Nan, Liao, Wen-Ling, Hsieh, Ai-Ru, Lin, Wei-De, Liu, Kai-Wen, Lu, Wen-Li, Huang, Chieh‐Chen, Chien, Yin-Hsiu, Lee, Ni-Chung, Su, Pen-Hua, Tsai, Fuu-Jen   +11 more
openaire   +1 more source

A new glucocerebrosidase chaperone reduces α-synuclein and glycolipid levels in iPSC-derived dopaminergic neurons from patients with gaucher disease and parkinsonism [PDF]

, 2016
et al,, Fujiwara, Hideji, Ory, Daniel S, Sidhu, Rohini   +3 more
core   +1 more source

CERT depletion predicts chemotherapy benefit and mediates cytotoxic and polyploid‐specific cancer cell death through autophagy induction [PDF]

, 2012
Andre, Bielawski, Blagosklonny, Broker, Chin, Daido, de Bruin, Demasters, Desmedt, Detre, Fujiwara, Gascoigne, Gentleman, Gewirtz, Groth-Pedersen, Gyorffy, Hanada, Hess, Hothorn, Hothorn, Hoyer-Hansen, Irizarry, Juul, Karna, Lee, Lee, Li, Lu, Mehrpour, Miller, Minn, Mootha, Ogretmen, Pawitan, Saftig, Schiff, Settembre, Shi, Sotiriou, Spassieva, Subramanian, Swanton, Swanton, Tang, Tatsuka, Toth, Van Veldhoven, Wang   +47 more
core   +1 more source

The interplay between GBA1 status and age of onset on cognitive, motor and non-motor outcomes in Parkinson's disease: multicenter cross-sectional study. [PDF]

J Neurol
Ledda C, Gallo S, Avenali M, Artusi CA, Imbalzano G, Donetto F, Montanaro E, Romagnolo A, Mitrotti P, Gallo L, De Micco R, Sant'Elia V, Siciliano M, Tessitore A, Calandra-Buonaura G, Giannini G, Sambati L, Lopiano L, Valente EM, Bozzali M.   +19 more
europepmc   +1 more source

Underlying Mechanisms of GBA1 in Parkinson's Disease and Dementia with Lewy Bodies: Narrative Review. [PDF]

Genes (Basel)
Bougea A.
europepmc   +1 more source

Protocol of ASPro-PD: a phase 3 trial of ambroxol to slow progression in genetically stratified Parkinson's disease. [PDF]

J Neurol
Toffoli M, Menozzi E, Cullen M, Chowdhury K, Ahmed S, Freemantle N, Duffen J, Wyse RK, Stott SRW, Matthews H, Dexter D, Ikeji F, Moss J, Watts P, Foltynie T, Kieburtz K, Rascol O, Poewe W, Schapira AHV.   +18 more
europepmc   +1 more source

Unveiling an Uncommon Glucosylceramidase (GBA) Mutation: Gaucher Disease Due to p.Ser276Phe Substitution. [PDF]

Cureus
Kumar N, Dange P, Samadder A, Kalita S, Kaushik JS.   +4 more
europepmc   +1 more source

Refining Mouse Models of Gaucher Disease: Advancing Mechanistic Insights, Biomarker Discovery, and Therapeutic Strategies. [PDF]

Int J Mol Sci
Fattahi N, Ruan J, Belinsky G, Xing S, Mistry PK, Nair S.   +5 more
europepmc   +1 more source

Case Report: Progressive myoclonus epilepsy as an early manifestation of neuronopathic Gaucher disease. [PDF]

Front Neurosci
Fang Z, Sun X, Hu Y, Xie C, Chen X, Jiang Y.   +5 more
europepmc   +1 more source

Pathological Protein Targets in Parkinson's Disease: Progress Towards the Development of Disease-Modifying Therapies. [PDF]

CNS Drugs
Dzamko N.
europepmc   +1 more source