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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1963 1
1964 1
1965 1
1966 1
1967 3
1969 2
1972 2
1973 5
1974 2
1975 4
1976 6
1977 8
1978 6
1979 4
1980 2
1981 4
1982 3
1983 4
1984 4
1985 5
1986 1
1987 4
1988 5
1989 3
1990 6
1991 8
1992 5
1993 8
1994 7
1995 17
1996 6
1997 9
1998 15
1999 6
2000 16
2001 13
2002 16
2003 16
2004 12
2005 17
2006 15
2007 18
2008 23
2009 21
2010 21
2011 18
2012 22
2013 34
2014 31
2015 26
2016 48
2017 25
2018 27
2019 34
2020 32
2021 33
2022 26
2023 33
2024 14

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682 results

Results by year

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Page 1
Young-onset dementia.
Kuruppu DK, Matthews BR. Kuruppu DK, et al. Semin Neurol. 2013 Sep;33(4):365-85. doi: 10.1055/s-0033-1359320. Epub 2013 Nov 14. Semin Neurol. 2013. PMID: 24234358 Free PMC article. Review.
Late-onset forms of childhood neurodegenerative conditions may also present as young-onset dementia and include mitochondrial disorders, lysosomal storage disorders, and leukodystrophies. Potentially reversible etiologies including inflammatory disorders, infectious diseas …
Late-onset forms of childhood neurodegenerative conditions may also present as young-onset dementia and include mitochondrial disorders, lys …
Lysosomal storage diseases.
Platt FM, d'Azzo A, Davidson BL, Neufeld EF, Tifft CJ. Platt FM, et al. Nat Rev Dis Primers. 2018 Oct 1;4(1):27. doi: 10.1038/s41572-018-0025-4. Nat Rev Dis Primers. 2018. PMID: 30275469 Review.
Adulthood leukodystrophies.
Köhler W, Curiel J, Vanderver A. Köhler W, et al. Nat Rev Neurol. 2018 Feb;14(2):94-105. doi: 10.1038/nrneurol.2017.175. Epub 2018 Jan 5. Nat Rev Neurol. 2018. PMID: 29302065 Review.
This Review focuses on leukodystrophies with major prevalence or primary onset in adulthood. We summarize 20 leukodystrophies with adult presentations, providing information on the underlying genetic mutations and on biochemical assays that aid diagnosis, where avai …
This Review focuses on leukodystrophies with major prevalence or primary onset in adulthood. We summarize 20 leukodystrophies …
Diagnosis, prognosis, and treatment of leukodystrophies.
van der Knaap MS, Schiffmann R, Mochel F, Wolf NI. van der Knaap MS, et al. Lancet Neurol. 2019 Oct;18(10):962-972. doi: 10.1016/S1474-4422(19)30143-7. Epub 2019 Jul 12. Lancet Neurol. 2019. PMID: 31307818 Review.
Leukodystrophies comprise a large group of rare genetic disorders primarily affecting CNS white matter. Historically, the diagnostic process was slow and patient prognosis regarded as poor because curative treatment was only available for very few leukodystrophies i …
Leukodystrophies comprise a large group of rare genetic disorders primarily affecting CNS white matter. Historically, the diagnostic …
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.
Introduction: Leukodystrophies constitute heterogenous group of rare heritable disorders primarily affecting the white matter of central nervous system. ...The diagnosis is, therefore, challenging in most cases.Area covered: Herein, the authors discuss different aspects of …
Introduction: Leukodystrophies constitute heterogenous group of rare heritable disorders primarily affecting the white matter of cent …
Case definition and classification of leukodystrophies and leukoencephalopathies.
Vanderver A, Prust M, Tonduti D, Mochel F, Hussey HM, Helman G, Garbern J, Eichler F, Labauge P, Aubourg P, Rodriguez D, Patterson MC, Van Hove JL, Schmidt J, Wolf NI, Boespflug-Tanguy O, Schiffmann R, van der Knaap MS; GLIA Consortium. Vanderver A, et al. Mol Genet Metab. 2015 Apr;114(4):494-500. doi: 10.1016/j.ymgme.2015.01.006. Epub 2015 Jan 29. Mol Genet Metab. 2015. PMID: 25649058 Free PMC article. Review.
METHOD: Thirteen experts at multiple institutions participated in iterative consensus building surveys to achieve definition and classification of disorders as leukodystrophies using a modified Delphi approach. RESULTS: A case definition for the leukodystrophies was …
METHOD: Thirteen experts at multiple institutions participated in iterative consensus building surveys to achieve definition and classificat …
Krabbe disease: New hope for an old disease.
Bradbury AM, Bongarzone ER, Sands MS. Bradbury AM, et al. Neurosci Lett. 2021 May 1;752:135841. doi: 10.1016/j.neulet.2021.135841. Epub 2021 Mar 22. Neurosci Lett. 2021. PMID: 33766733 Free PMC article. Review.
Krabbe disease (globoid cell leukodystrophy) is a lysosomal storage disease (LSD) characterized by progressive and profound demyelination. ...
Krabbe disease (globoid cell leukodystrophy) is a lysosomal storage disease (LSD) characterized by progressive and profound demyelina …
Gene Therapy of Sphingolipid Metabolic Disorders.
Shaimardanova AA, Solovyeva VV, Issa SS, Rizvanov AA. Shaimardanova AA, et al. Int J Mol Sci. 2023 Feb 11;24(4):3627. doi: 10.3390/ijms24043627. Int J Mol Sci. 2023. PMID: 36835039 Free PMC article. Review.
This group of lysosomal storage diseases includes more than 10 genetic disorders, including GM1-gangliosidosis, Tay-Sachs disease, Sandhoff disease, the AB variant of GM2-gangliosidosis, Fabry disease, Gaucher disease, metachromatic leukodystrophy, Krabbe disease, Niemann- …
This group of lysosomal storage diseases includes more than 10 genetic disorders, including GM1-gangliosidosis, Tay-Sachs disease, Sandhoff …
Practical approach to the diagnosis of adult-onset leukodystrophies: an updated guide in the genomic era.
Lynch DS, Wade C, Paiva ARB, John N, Kinsella JA, Merwick Á, Ahmed RM, Warren JD, Mummery CJ, Schott JM, Fox NC, Houlden H, Adams ME, Davagnanam I, Murphy E, Chataway J. Lynch DS, et al. J Neurol Neurosurg Psychiatry. 2019 May;90(5):543-554. doi: 10.1136/jnnp-2018-319481. Epub 2018 Nov 22. J Neurol Neurosurg Psychiatry. 2019. PMID: 30467211 Free PMC article. Review.
Adult-onset leukodystrophies and genetic leukoencephalopathies comprise a diverse group of neurodegenerative disorders of white matter with a wide age of onset and phenotypic spectrum. ...
Adult-onset leukodystrophies and genetic leukoencephalopathies comprise a diverse group of neurodegenerative disorders of white matte …
Adult Leukodystrophies: A Step-by-Step Diagnostic Approach.
Resende LL, de Paiva ARB, Kok F, da Costa Leite C, Lucato LT. Resende LL, et al. Radiographics. 2019 Jan-Feb;39(1):153-168. doi: 10.1148/rg.2019180081. Radiographics. 2019. PMID: 30620693 Review.
Leukodystrophies usually affect children, but in the last several decades, many instances of adult leukodystrophies have been reported in the medical literature. ...A step-by-step approach to assist in the diagnosis of adult leukodystrophies is proposed in th …
Leukodystrophies usually affect children, but in the last several decades, many instances of adult leukodystrophies have been …
682 results