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Page 1
Leukodystrophy Imaging: Insights for Diagnostic Dilemmas.
Thakkar RN, Patel D, Kioutchoukova IP, Al-Bahou R, Reddy P, Foster DT, Lucke-Wold B. Thakkar RN, et al. Med Sci (Basel). 2024 Jan 25;12(1):7. doi: 10.3390/medsci12010007. Med Sci (Basel). 2024. PMID: 38390857 Free PMC article. Review.
The leukodystrophies discussed in this paper include X-linked adrenoleukodystrophy, metachromatic leukodystrophy, Krabbe's disease, Pelizaeus-Merzbacher disease, Alexander's disease, Canavan disease, and Aicardi-Goutieres Syndrome....
The leukodystrophies discussed in this paper include X-linked adrenoleukodystrophy, metachromatic leukodystrophy, Krabbe's disease, …
Genetic mimics of cerebral palsy.
Pearson TS, Pons R, Ghaoui R, Sue CM. Pearson TS, et al. Mov Disord. 2019 May;34(5):625-636. doi: 10.1002/mds.27655. Epub 2019 Mar 26. Mov Disord. 2019. PMID: 30913345 Review.
This is particularly important in the case of genetic or metabolic disorders that have specific disease-modifying treatment. In this article, we discuss clinical features that should alert the clinician to the possibility of a cerebral palsy mimic, provide a practical fram …
This is particularly important in the case of genetic or metabolic disorders that have specific disease-modifying treatment. In this …
An update on clinical, pathological, diagnostic, and therapeutic perspectives of childhood leukodystrophies.
Ashrafi MR, Amanat M, Garshasbi M, Kameli R, Nilipour Y, Heidari M, Rezaei Z, Tavasoli AR. Ashrafi MR, et al. Expert Rev Neurother. 2020 Jan;20(1):65-84. doi: 10.1080/14737175.2020.1699060. Epub 2019 Dec 12. Expert Rev Neurother. 2020. PMID: 31829048 Review.
New genetic methods and stem cell transplantation are also under investigation to further increase the quality and duration of life in affected population.Expert opinion: The improvements in molecular diagnostic tools allow us to identify the meticulous underlying etiology of leu …
New genetic methods and stem cell transplantation are also under investigation to further increase the quality and duration of life in affec …
Pelizaeus-Merzbacher Disease: Molecular and Cellular Pathologies and Associated Phenotypes.
Inoue K. Inoue K. Adv Exp Med Biol. 2019;1190:201-216. doi: 10.1007/978-981-32-9636-7_13. Adv Exp Med Biol. 2019. PMID: 31760646 Review.
Pelizaeus-Merzbacher disease (PMD) represents a group of disorders known as hypomyelinating leukodystrophies, which are characterized by abnormal development and maintenance of myelin in the central nervous system. ...
Pelizaeus-Merzbacher disease (PMD) represents a group of disorders known as hypomyelinating leukodystrophies, which are
Neurogenetics of Pelizaeus-Merzbacher disease.
Osório MJ, Goldman SA. Osório MJ, et al. Handb Clin Neurol. 2018;148:701-722. doi: 10.1016/B978-0-444-64076-5.00045-4. Handb Clin Neurol. 2018. PMID: 29478609 Free PMC article. Review.
Pelizaeus-Merzbacher disease (PMD) is an X-linked disorder caused by mutations in the PLP1 gene, which encodes the proteolipid protein of myelinating oligodendroglia. ...A number of clinically similar Pelizaeus-Merzbacher-like disorders (PMLD) a
Pelizaeus-Merzbacher disease (PMD) is an X-linked disorder caused by mutations in the PLP1 gene, which encodes the prot
Concise Review: Stem Cell-Based Treatment of Pelizaeus-Merzbacher Disease.
Osorio MJ, Rowitch DH, Tesar P, Wernig M, Windrem MS, Goldman SA. Osorio MJ, et al. Stem Cells. 2017 Feb;35(2):311-315. doi: 10.1002/stem.2530. Epub 2016 Nov 23. Stem Cells. 2017. PMID: 27882623 Free PMC article. Review.
Pelizaeus-Merzbacher disease (PMD) is an X-linked disorder caused by mutation in the proteolipid protein-1 (PLP1) gene, which encodes the proteolipid protein of myelinating oligodendroglia. PMD exhibits phenotypic variability that reflects its considerable ge
Pelizaeus-Merzbacher disease (PMD) is an X-linked disorder caused by mutation in the proteolipid protein-1 (PLP1) gene,
Biology of oligodendrocyte and myelin in the mammalian central nervous system.
Baumann N, Pham-Dinh D. Baumann N, et al. Physiol Rev. 2001 Apr;81(2):871-927. doi: 10.1152/physrev.2001.81.2.871. Physiol Rev. 2001. PMID: 11274346 Free article. Review.
The best examples are the studies concerning the effects of the mutations affecting the most abundant protein in the central nervous myelin, the proteolipid protein, which lead to dysmyelinating diseases in animals and human (jimpy mutation and Pelizaeus-Merzbacher
The best examples are the studies concerning the effects of the mutations affecting the most abundant protein in the central nervous myelin, …
Pelizaeus-Merzbacher disease: on the cusp of myelin medicine.
Elitt MS, Tesar PJ. Elitt MS, et al. Trends Mol Med. 2024 May;30(5):459-470. doi: 10.1016/j.molmed.2024.03.005. Epub 2024 Apr 5. Trends Mol Med. 2024. PMID: 38582621 Review.
Pelizaeus-Merzbacher disease (PMD) is caused by mutations in the proteolipid protein 1 (PLP1) gene encoding proteolipid protein (PLP). ...With several novel treatments on the horizon, PMD is on the precipice of a new era in the diagnosis and treatment of pati
Pelizaeus-Merzbacher disease (PMD) is caused by mutations in the proteolipid protein 1 (PLP1) gene encoding proteolipid
Pelizaeus-Merzbacher disease: cellular pathogenesis and pharmacologic therapy.
Torii T, Miyamoto Y, Yamauchi J, Tanoue A. Torii T, et al. Pediatr Int. 2014 Oct;56(5):659-66. doi: 10.1111/ped.12450. Pediatr Int. 2014. PMID: 25040584 Review.
Pelizaeus-Merzbacher disease (PMD) is a rare leukodystrophy that causes severe dysmyelination in the central nervous system in infancy and early childhood. ...
Pelizaeus-Merzbacher disease (PMD) is a rare leukodystrophy that causes severe dysmyelination in the central nervous sy
The leukodystrophies.
Gordon HB, Letsou A, Bonkowsky JL. Gordon HB, et al. Semin Neurol. 2014 Jul;34(3):312-20. doi: 10.1055/s-0034-1386769. Epub 2014 Sep 5. Semin Neurol. 2014. PMID: 25192509 Review.
Leukodystrophies can present at any age from infancy to adulthood, with variability in disease progression and clinical presentation, ranging from developmental delay to seizures to spasticity. ...
Leukodystrophies can present at any age from infancy to adulthood, with variability in disease progression and clinical presentation, …
92 results