Results 11 to 20 of about 9,985 (202)

Hyperoxia Induced Hypomyelination

Biomedicines, 2022
We asked whether hyperoxia might induce hypomyelination of the corpus callosum, clinically described as periventricular leukomalacia (PVL) of the severely preterm infant.
Weilin Song, George Hoppe, Demiana Hanna, Tara M. DeSilva, Jonathan E. Sears   +4 more
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N-Acetylaspartylglutamate in CNS Hypomyelination [PDF]

Neuropediatrics, 2011
CSF N-acetylaspartylglutamate (NAAG) has been found to be elevated in some hypomyelinating disorders. This study addressed the question whether it could be used as a marker for hypomyelination and as a means to distinguish between hypomyelinating disorders biochemically.
Wamelink, M.M., Struys, E., Holwerda, U., Sistermans, E.A., Spaendonk, R.M.L. van, Halley, D., Willemsen, M.A.A.P., Jakobs, C., Knaap, M.S. van der, Wolf, N.I.   +9 more
openaire   +5 more sources

Pharmacological treatment and BBB-targeted genetic therapy for MCT8-dependent hypomyelination in zebrafish [PDF]

Disease Models & Mechanisms, 2016
Hypomyelination is a key symptom of Allan-Herndon-Dudley syndrome (AHDS), a psychomotor retardation associated with mutations in the thyroid-hormone (TH) transporter MCT8 (monocarboxylate transporter 8).
David Zada, Adi Tovin, Tali Lerer-Goldshtein, Lior Appelbaum   +3 more
doaj   +2 more sources

Mutations in RARS cause hypomyelination

Annals of Neurology, 2014
Hypomyelinating disorders of the central nervous system are still a diagnostic challenge, as many patients remain without genetic diagnosis. Using magnetic resonance imaging (MRI) pattern recognition and whole exome sequencing, we could ascertain compound heterozygous mutations in RARS in 4 patients with hypomyelination.
Wolf, N.I., Salomons, G.S., Rodenburg, R.J., Rodenburg, R.J., Pouwels, P.J., Schieving, J.H., Derks, T.G., Fock, J.M., Rump, P., van Beek, D.M., van der Knaap, M.S., Waisfisz, Q.   +11 more
openaire   +8 more sources

Hypomyelination and Congenital Cataract [PDF]

Archives of Neurology, 2011
ObjectiveTo further delineate the clinical spectrum of hypomyelination and congenital cataract (HCC), a rare autosomal recessive white matter disorder due to deficiency of a membrane protein, hyccin, encoded by FAM126A.DesignCase reports and literature review.SettingUniversity hospital.PatientsNine additional patients with HCC.ResultsCataract was ...
Biancheri R, Zara F, Rossi A, Mathot M, Nassogne MC, Yalcinkaya C, Erturk O, Tuysuz B, Di Rocco M, Gazzerro E, Bugiani M, van Spaendonk R, Sistermans EA, MINETTI, CARLO, van der Knaap MS, Wolf NI   +15 more
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Ataxia with Idiopathic Hypomyelination

Pediatric Neurology Briefs, 1994
A progressive ataxic diplegia syndrome of unknown etiology is reported in 4 unrelated girls evaluated at the National Institutes of Health, Bethesda, MD; Johns Hopkins University, Baltimore, MD; and Tufts, New England Medical Center, Boston, MA.
J Gordon Millichap
doaj   +4 more sources

PMP22 related congenital hypomyelination neuropathy [PDF]

Journal of Neurology, Neurosurgery & Psychiatry, 2001
The peripheral myelin protein 22 (PMP22) is a tetraspan membrane protein which is localised in the compact myelin of the peripheral nerves. In fibroblasts, where it was originally identified as growth arrest related factor 3 (Gas3), PMP22 has been shown to modulate cell proliferation; in the peripheral nervous system its roles are still debated.
G M, Fabrizi, A, Simonati, F, Taioli, T, Cavallaro, M, Ferrarini, F, Rigatelli, A, Pini, M L, Mostacciuolo, N, Rizzuto   +8 more
openaire   +3 more sources

Transcriptional Fingerprint of Hypomyelination in and () Mice

ASN Neuro, 2016
The transcriptional program that controls oligodendrocyte maturation and central nervous system (CNS) myelination has not been fully characterized. In this study, we use high-throughput RNA sequencing to analyze how the loss of a key transcription factor,
Joshua D. Aaker, Benayahu Elbaz, Yuwen Wu, Timothy J. Looney, Li Zhang, Bruce T. Lahn, Brian Popko   +6 more
doaj   +2 more sources

A hypomyelinating leukodystrophy in German Shepherd dogs [PDF]

Journal of Veterinary Internal Medicine, 2021
Background Shaking puppy syndrome is commonly attributed to abnormal myelination of the central nervous system. Hypothesis/Objectives To report the long‐term clinical course and the imaging characteristics of hypomyelinating leukodystrophy in German ...
Pia R. Quitt, Andreas Brühschwein, Kaspar Matiasek, Franziska Wielaender, Veera Karkamo, Marjo K. Hytönen, Andrea Meyer‐Lindenberg, Berett Dengler, Tosso Leeb, Hannes Lohi, Andrea Fischer   +10 more
doaj   +5 more sources

Increased apoptosis and hypomyelination in cerebral white matter of macular mutant mouse brain

Molecular Genetics and Metabolism Reports, 2015
Hypomyelination in developing brain is often accompanied by congenital metabolic disorders. Menkes kinky hair disease is an X-linked neurodegenerative disease of impaired copper transport, resulting from a mutation of the Menkes disease gene, a ...
Shoichi Takikita, Tomoyuki Takano, Tsutomu Narita, Yoshihiro Maruo   +3 more
doaj   +2 more sources