Results 101 to 110 of about 2,195 (134)

The glucocerobrosidase E326K variant predisposes to Parkinson's disease, but does not cause Gaucher's disease. [PDF]

Mov Disord, 2013
Duran R, Mencacci NE, Angeli AV, Shoai M, Deas E, Houlden H, Mehta A, Hughes D, Cox TM, Deegan P, Schapira AH, Lees AJ, Limousin P, Jarman PR, Bhatia KP, Wood NW, Hardy J, Foltynie T.   +17 more
europepmc   +1 more source

Rare biochemical & genetic conditions: clues for broader mechanistic insights. [PDF]

Cell Mol Life Sci
Mentis AA, Dalamaga M.
europepmc   +1 more source

GPNMB, LRRK2, and lysosome exocytosis in Parkinson's. [PDF]

Sci Adv
Pfeffer SR.
europepmc   +1 more source

The lysosome and proteostatic stress at the intersection of pediatric neurological disorders and adult neurodegenerative diseases. [PDF]

Prog Neurobiol
Lane-Donovan C, Paredes M, Kao AW.
europepmc   +1 more source

Non-neuronopathic Gaucher disease (Type I) in an elderly female: a case report. [PDF]

Ann Med Surg (Lond)
Bohara S, Bhattarai S, Khadka M, Ghimire D, Karki S, Poudel N, Aryal G, Dhakal SS.   +7 more
europepmc   +1 more source

Advances in Cell and Gene Therapy for Rare Disease Treatment. [PDF]

Int J Stem Cells
Baek HJ, Nam Y, Rim YA, Ju JH.
europepmc   +1 more source

Base and translation of β-glucocerebrosidase and its transporter LIMP-2 in neuropathies. [PDF]

Neural Regen Res
Arnold P, Zunke F.
europepmc   +1 more source

Gaucher's disease and retinitis pigmentosa : A case report

The Turkish Journal of Gastroenterology, 1998
Nadir KAYA, Mustafa KETENCİ, Arif KOŞAR, Nurşen ARITÜRK, İlkser AKPOLAT, Levent ALTINTOP, Hakkı KAHRAMAN   +6 more
doaj  

Aseptic osteonecrosis of the jaw in a patient with HIV on tenofovir. [PDF]

Proc (Bayl Univ Med Cent)
Bhattarai S, Bhattarai S, Dondapati L, Macapinlac E, Kolade V.   +4 more
europepmc   +1 more source