Results 101 to 110 of about 4,597 (153)

Neuronal ceroid lipofuscinosis type 2 disease in a 4-year-old child with epilepsy and concerns for stuttering

Brain and Development Case Reports
Lorena Galvan, Dorota Szczepaniak, Bri Dingmann, Emily Myers   +3 more
openaire   +1 more source

Development of national biobank for lysosomal storage disorders in India- a step towards advancing research and precision medicine. [PDF]

Orphanet J Rare Dis
Sheth J, Nair A, Bhavsar R, Kamate M, Gowda VK, Bavdekar A, Kadam S, Nampoothiri S, Datar C, Panigrahi I, Kaur A, Shah S, Mehta S, Jagadeesan S, Suresh I, Prabha CR, Kapoor S, Bajaj S, Devi RR, Prajapati A, Godbole K, Patel H, Luhar Z, Shah RC, Iyer A, Bijarnia-Mahay S, Puri R, Muranjan M, Shah A, Magar S, Gupta N, Tayade N, Kabra M, Jalan A, Solanki D, Dalal A, Sheth F, Sheth H.   +37 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

The role of protein palmitoylation in disease pathogenesis and therapeutic innovation. [PDF]

Ann Med
Lin X, Xing J, Jia K, Liu S, Liu Y, Gu Y, Guo K, Yi J.   +7 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

CLN3 mediates chloride efflux from lysosomes. [PDF]

Neuron
Wang Y, Li K, Chen W, Chen C, Yong AJH, Zhang X, Tynan-La Fontaine M, Jan YN, Jan LY.   +8 more
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

A Flupirtine Benzyl Carbamate Improves Neurocognitive Deficits and Molecular Pathology in the <i>Cln6^nclf</i> Mouse. [PDF]

Cells
Chaoul V, Shmoury O, Alam R, Saab S, Makoukji J, Aridi LA, Makhoul NJ, Soueid J, V Carmona A, Simeon P, Trippier PC, Boustany RM.   +11 more
europepmc   +1 more source

Resolution of the Expert Council “Open questions in the management of patients with neuronal ceroid lipofuscinosis type 2”

Russian Journal of Child Neurology
openaire   +1 more source

Neurodegenerative Diseases in Children: A Comprehensive Review. [PDF]

Int J Mol Sci
Ailioaie C, Ailioaie LM, Stan CI, Sava A, Chiran DA.   +4 more
europepmc   +1 more source