Results 121 to 130 of about 11,658 (188)

Spinal muscular atrophy in Brazil: from individual treatment to global management. [PDF]

J Pediatr (Rio J)
Servais L, Moreno CAM.
europepmc   +1 more source

A Rare Case of Vanishing White Matter Disease. [PDF]

Cureus
Thakur M, Pande V, Mane SV.
europepmc   +1 more source

Progressive demyelinating polyneuropathy after hematopoietic cell transplantation in metachromatic leukodystrophy: a case series. [PDF]

J Neurol
Beerepoot S, Boelens JJ, Lindemans C, de Witte MA, Nierkens S, Vrancken AFJE, van der Knaap MS, Bugiani M, Wolf NI.   +8 more
europepmc   +1 more source

A Rare Case of Late Infantile Form of Multiple Sulfatase Deficiency. [PDF]

Indian Dermatol Online J
Lakum MP, Padhiyar JK, Patel NH, Patel KA.   +3 more
europepmc   +1 more source

Longitudinal natural history studies based on real-world data in rare diseases: Opportunity and a novel approach. [PDF]

Mol Genet Metab
Adang LA, Sevagamoorthy A, Sherbini O, Fraser JL, Bonkowsky JL, Gavazzi F, D'Aiello R, Modesti NB, Yu E, Mutua S, Kotes E, Shults J, Vincent A, Emrick LT, Keller S, Van Haren KP, Woidill S, Barcelos I, Pizzino A, Schmidt JL, Eichler F, Fatemi A, Vanderver A.   +22 more
europepmc   +1 more source

Effective gene therapy for metachromatic leukodystrophy achieved with minimal lentiviral genomic integrations. [PDF]

Mol Ther Nucleic Acids
Tricoli L, Sase S, Hacker JL, Pham V, Chappell M, Breda L, Hurwitz SN, Tanaka N, Castruccio Castracani C, Guerra A, Hou Z, Schlotawa L, Radhakrishnan K, Hogenauer M, Roche A, Everett J, Bushman F, Kurre P, Ahrens-Nicklas R, Adang LA, Vanderver AL, Rivella S.   +21 more
europepmc   +1 more source

Higher precision, first tier newborn screening for metachromatic leukodystrophy using 16:1-OH-sulfatide. [PDF]

Mol Genet Metab
Bekri S, Bley A, Brown HA, Chanson C, Church HJ, Gelb MH, Hong X, Janzen N, Kasper DC, Mechtler T, Morton G, Murko S, Oliva P, Tebani A, Wu THY.   +14 more
europepmc   +1 more source

Single cell RNAseq to identify subpopulations of glial progenitors in iPSC-derived oligodendroglial lineage cultures. [PDF]

NPJ Syst Biol Appl
Blaszczyk GJ, Piscopo VEC, Goldsmith TM, Chapleau A, Sirois J, Bernard G, Antel JP, Durcan TM.   +7 more
europepmc   +1 more source

Framework for Multistakeholder Patient Registries in the Field of Rare Diseases: Focus on Neurogenetic Diseases. [PDF]

Neurology
Schoenmakers DH, van den Berg S, Timmers L, Adang LA, Bäumer T, Bosch A, van de Casteele M, Datema MR, Dekker H, Donnelly C, Driessens MHE, Graessner H, Greger V, Haddad T, Höglinger GU, van den Hout H, Jonker C, Langeveld M, Lambert LJ, Neacy E, Nieuwland M, Klockgether T, van der Knaap MS, Papadopoulou A, Plueschke K, van Rijn S, Rosenberg N, Saunier-Vivar EF, Dos Santos Vieira B, Hollak CEM, Goettsch WG, Wolf NI.   +31 more
europepmc   +1 more source