Results 111 to 120 of about 13,979 (223)

The Leukodystrophies [PDF]

Proceedings of the Royal Society of Medicine, 1975
openaire   +2 more sources

Dystonia in RNA Polymerase III-Related Leukodystrophy

, 2019
Objectives: To identify the prevalence of dystonia in a RNA Polymerase III (POLR3)-related leukodystrophy patient cohort and to further characterize their dystonic features.
Geneviève Bernard, Kether Guerrero, Ghalia Al Yazidi, Tran, Luan T., Sylvain Chouinard, Bernard, Geneviève, Nicole I. Wolf, Wolf, Nicole I., Al Yazidi, Ghalia, Guerrero, Kether, Adeline Vanderver, Schiffmann, Raphael, Raphael Schiffmann, Chouinard, Sylvain, Vanderver, Adeline, Luan T. Tran   +15 more
core   +1 more source

Diagnosing and Managing Pelizaeus‐Merzbacher Disease: A Pediatric Struggle

Clinical Case Reports
Prompt diagnosis of rare genetic conditions like Pelizaeus‐Merzbacher Disease enables timely care. Coordinated, multidisciplinary support and proactive prevention, particularly of issues like aspiration pneumonia, are vital to enhancing quality of life ...
Sajjad Ahmed Khan, Naphibanroi Lamar, Ishan Shrestha, Sagar Bhagat   +3 more
doaj   +1 more source

Editorial: White matter dementia: neuropathological and neuropsychological underpinnings and state of the art diagnosis methods and treatments

Frontiers in Neurology, 2023
Christopher M. Filley, Iris-Katharina Penner, Lisa Schäfer, Wolfgang Köhler   +3 more
doaj   +1 more source

Generation and characterization of a zebrafish gain-of-function ACOX1 Mitchell disease model

Frontiers in Pediatrics
BackgroundMitchell syndrome is a rare, neurodegenerative disease caused by an ACOX1 gain-of-function mutation (c.710A>G; p.N237S), with fewer than 20 reported cases. Affected patients present with leukodystrophy, seizures, and hearing loss.
Quentin Raas, Quentin Raas, Austin Wood, Tamara J. Stevenson, Shanna Swartwood, Suzanne Liu, Rangaramanujam M. Kannan, Sujatha Kannan, Sujatha Kannan, Joshua L. Bonkowsky, Joshua L. Bonkowsky   +10 more
doaj   +1 more source

Clinically Important Endpoints in Individuals With Leukodystrophy: A Multisite Study

Annals of the Child Neurology Society
Importance Leukodystrophies are a diverse group of rare disorders that disrupt central myelination. These disorders present with a broad spectrum of neurological severity and are associated with a range of potential secondary complications, such as ...
Emma R. Kotes, Sarah Woidill, Russell D'Aiello, Amina Khan, Jacob McCann, Mark Ramos, Francesco Gavazzi, Stephanie Keller, Keith Van Haren, Ali Fatemi, Florian Eichler, Joshua Bonkowsky, Jamie Fraser, Lisa Emrick, Omar Sherbini, Ashley Hackett, Jeilo Gauna, Dandre Amos, Jordan Goodman, Amena Smith Fine, Amanda Nagy, Seungil Lee, Nicole Page, Johanna Schmidt, Amy Pizzino, Kayla Muirhead, Mariko Bennett, Amy Waldman, Justine Shults, Laura Adang, Robert Grundmeier, Adeline Vanderver   +31 more
doaj   +1 more source

Late Infantile Metachromatic Leukodystrophy 1례

, 1996
Metachromatic leukodystrophy (MLD) is a neurodegeneratve disease inherited as an autosomal recessive trait, in which sulfatide is excessively accumulated in the lysosomes of the central and peripheral nervous system as well as many other tissues ...
김, 성환, 노, 수용, 심, 철
core   +1 more source

Leukodystrophy Imaging: Insights for Diagnostic Dilemmas

Leukodystrophies, a group of rare demyelinating disorders, mainly affect the CNS. Clinical presentation of different types of leukodystrophies can be nonspecific, and thus, imaging techniques like MRI can be used for a more definitive diagnosis.
Ivelina P. Kioutchoukova, Drashti Patel, Raja Al-Bahou, Pranith Reddy, Rajvi N. Thakkar, Devon T. Foster, Brandon Lucke-Wold   +6 more
core   +1 more source

Metachromatic Leukodystrophy: Diagnosis, Modeling, and Treatment Approaches

, 2020
© Copyright © 2020 Shaimardanova, Chulpanova, Solovyeva, Mullagulova, Kitaeva, Allegrucci and Rizvanov. Metachromatic leukodystrophy is a lysosomal storage disease, which is characterized by damage of the myelin sheath that covers most of nerve fibers of
Chulpanova D.S., Mullagulova A.I., Kitaeva K.V., Shaimardanova A.A., Solovyeva V.V., Allegrucci C., Rizvanov A.A.   +6 more
core  

Advances in Research on <i>AARS1</i>/<i>AARS2</i>-Related Disorders: A Focus on Leukodystrophies. [PDF]

Genes (Basel)
Yang Z, Zhang W, Yu F, Duan X, Zhou M, Tang B.   +5 more
europepmc   +1 more source