Results 101 to 110 of about 2,625 (156)

Pilot Study of Fingolimod Treatment in Neuronal Ceroid Lipofuscinosis Type 1. [PDF]

Neurol Genet
Messina M, Whiteley R, Gan C, Heywood WE, Heslegrave AJ, Keating M, Taylor S, Footitt E, Mills P, Hemingway C, Gissen P, Vecchiato K.   +11 more
europepmc   +1 more source

Cln3-mutations underlying juvenile neuronal ceroid lipofuscinosis cause significantly reduced levels of Palmitoyl-protein thioesterases-1 (Ppt1)-protein and Ppt1-enzyme activity in the lysosome. [PDF]

J Inherit Metab Dis, 2019
Appu AP, Bagh MB, Sadhukhan T, Mondal A, Casey S, Mukherjee AB.   +5 more
europepmc   +1 more source

Recommendations for the diagnosis and management of cln3 disease (batten disease) using the Delphi consensus methodology. [PDF]

Orphanet J Rare Dis
Mink JW, Adams HR, Ahrens-Nicklas R, Andersen BN, Augustine E, Boustany RM, Cooper JD, Levin A, Gissen P, Laine M, Mason HL, Mole SE, Nickel M, Ostergaard JR, Sikorra L, Treat L, Whiteman IT, Williams R, Schulz A.   +18 more
europepmc   +1 more source

Diagnostic analysis of adult neuronal ceroid lipofuscinosis caused by CLN6 gene mutation: a case report. [PDF]

Clin Park Relat Disord
Hu Y, Sun H, Jiang Q, Wang J, Zhang S, Lin X.   +5 more
europepmc   +1 more source

Patient and Family Perspective on Transition from Ventricular Access Device to Chest-Sited Port for Intracerebroventricular Infusion in CLN2 Disease. [PDF]

Children (Basel)
Gopalka M, Patel J, Votoupal M, Lam S.
europepmc   +1 more source

Long-term follow-up of a Tay-Sachs disease patient with cherry-red spot. [PDF]

Am J Ophthalmol Case Rep
Tsutsumi N, Sakata S, Ikari R, Ebihara N.   +3 more
europepmc   +1 more source

Long-Term Open-Label Study Evaluating Oral Miglustat Treatment in Patients With Neuronal Ceroid Lipofuscinosis Type 3. [PDF]

Neurology
Pietrafusa N, Trivisano M, Calabrese C, De Dominicis A, Cappelletti S, Correale C, Salimbene L, Vallesi L, Corsetti T, Specchio N.   +9 more
europepmc   +1 more source

Progress and challenges in intrathecal gene therapy for neurological disorders. [PDF]

EBioMedicine
Kagiava A, Chen X, Finkel RS, Gray SJ, Kleopa KA.   +4 more
europepmc   +1 more source

Stratified obstetric management for heterogeneous rare diseases: a precision medicine framework based on four genetic archetypes. [PDF]

Front Med (Lausanne)
Lv S, Yang H, Cui Y, Yang H.
europepmc   +1 more source