Results 181 to 190 of about 21,243 (259)

Hematopoietic Stem Cell Transplantation to Treat Leukodystrophies: Clinical Practice Guidelines from the Hunter's Hope Leukodystrophy Care Network

, 2019
Kristin Page, Elizabeth Stenger, James A. Connelly, David C. Shyr, Tara West, Susan Wood, Laura E. Case, Maureen Kester, Soo Shim, Lauren Hammond, Matthew D. Hammond, Christin Webb, Alessandra Biffi, Barbara Bambach, Ali Fatemi, Joanne Kurtzberg   +15 more
openalex   +1 more source

Analyzing accessibility and suitability of online Krabbe disease resources. [PDF]

J Community Genet
Zieber M, Weaver WC, Felter E, Brackbill L, Rajan D, Durst A.   +5 more
europepmc   +1 more source

A Pre-Pilot Newborn Screening Study for Metachromatic Leukodystrophy Identified and Referred a Late Infantile Case for Treatment

Teresa Hoi-Yee Wu, Heather A. Brown, Heather J. Church, Christopher J. Kershaw, Rebekah Hutton, Christine Egerton, James A. Cooper, Karen Tylee, Rebecca N. Cohen, David Gokhale, Dipak Ram, Michael W. Henderson, Brian Bigger, Simon Jones   +13 more
openalex   +1 more source

"Case report": Whole-exome sequencing reveals compound heterozygous variants in the <i>EIF2B5</i> gene in a familial case of vanishing white matter. [PDF]

Front Genet
Savy S, Montes FA, Grosso CL, Laróvere LE, Silvera-Ruiz SM, Carro GH, Guelbert G, Becerra A, Morales D, Nicola JP.   +9 more
europepmc   +1 more source

Effective Gene Therapy for Metachromatic Leukodystrophy Achieved with Minimal Lentiviral Genomic Integrations [PDF]

Lucas Tricoli, Sunetra Sase, Julia Hacker, Vi Pham, Sidney Smith, Maxwell Chappell, Laura Breda, Stephanie N. Hurwitz, Naoto Tanaka, Carlo Castruccio Castracani, Amaliris Guerra, Zhongqi Hou, Lars Schlotawa, Karthikeyan Radhakrishnan, Peter Kurre, Rebecca C. Ahrens‐Nicklas, Laura Adang, Adeline Vanderver, Stefano Rivella   +18 more
openalex   +1 more source

Retinal Vasculopathy With Cerebral Leukodystrophy: Clinicopathologic Features of an Autopsied Patient With a Heterozygous TREX 1 Mutation [PDF]

, 2018
Rie Saito, Hiroaki Nozaki, Taisuke Kato, Yasuko Toyoshima, Hajime Tanaka, Yutaka Tsubata, Tetsuo Morioka, Yoh Horikawa, Kiyomitsu Oyanagi, Takashi Morita, Osamu Onodera, Akiyoshi Kakita   +11 more
openalex   +1 more source

Editorial: Advances in systems neurogenetics. [PDF]

Front Neurosci
Carney P, Zhang B.
europepmc   +1 more source

LSM7 variants involving key amino acids for LSM complex function cause a neurodevelopmental disorder with leukodystrophy and cerebellar atrophy

Matis Crespin, Karine Siquier-Pernet, Pauline Marzin, Christine Bôle‐Feysot, Valérie Malan, Patrick Nitschké, Marie Hully, Charles‐Joris Roux, M. Lemoine, Marlène Rio, Nathalie Boddaert, Thomas Courtin, Vincent Cantagrel   +12 more
openalex   +1 more source

Paternal uniparental isodisomy of chromosome 22 in a patient with metachromatic leukodystrophy [PDF]

, 2012
Yo Niida, Mondo Kuroda, Yusuke Mitani, Ayano Yokoi, Mamoru Ozaki   +4 more
openalex   +1 more source

Stem cell and gene therapies for leukodystrophies. [PDF]

Mol Ther Methods Clin Dev
Lin W, Zhang M, Zheng S, Lian Q.
europepmc   +1 more source