Results 111 to 120 of about 10,122 (170)

소아 신경영상에서 보이는 비선천성 원인의 영상 소견: 임상 화보. [PDF]

J Korean Soc Radiol
Gala F, Jain N, Salunke N.
europepmc   +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

"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

Editorial: Advances in systems neurogenetics. [PDF]

Front Neurosci
Carney P, Zhang B.
europepmc   +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

CRISPR-mediated genomic repair of ARSA mutations in metachromatic leukodystrophy: a transformative step toward precision neuromodulation. [PDF]

Ann Med Surg (Lond)
Mahin FE, Rubab M, Fatima M, Talha M, Rehman UU.   +4 more
europepmc   +1 more source

Spatially resolved lipids in a mouse brain model of globoid cell leukodystrophy via IR-MALDESI MSI and parallel reaction monitoring MSI. [PDF]

Anal Bioanal Chem
Hunter SN, Wang MF, Thomas BN, Filiano AJ, Muddiman DC.   +4 more
europepmc   +1 more source

Consensus-Based Expert Recommendations for Diagnosis and Clinical Management of Vanishing White Matter. [PDF]

Neurology
van Voorst RJ, Schoenmakers DH, Bonkowsky JL, Vanderver A, Krägeloh-Mann I, Bernard G, Bertini E, Fatemi A, Sgobbi PV, Wolf NI, Groeschel S, Tonduti D, Sevin C, Orthmann-Murphy JL, Schöls L, Salsano E, Brais B, Jaffe N, Ter Horst KW, Hannema SE, Hayes KG, Meyburg J, van Heerde M, Sbrocchi AM, van Spaendonk R, Thiffault I, Hofsteenge GH, Sudmeier-Broek C, Timmer C, Skwirut D, Buck A, Hollberg B, Chapleau R, Dekker H, Campbell SG, Abbink TEM, Leferink PS, van der Knaap MS.   +37 more
europepmc   +1 more source

Infantile-Onset Vanishing White Matter Disease in an Azerbaijani Infant With a Homozygous EIF2B5 p.(Arg195His) Variant. [PDF]

Cureus
Isayev C, Haciyeva I, Hasanov E, Hasanova F, Samadov P.   +4 more
europepmc   +1 more source