Relevant bibliographies by topics / Leukodystrophies

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  1. Journal articles
  2. Dissertations / Theses
  3. Books
  4. Book chapters
  5. Conference papers

Academic literature on the topic 'Leukodystrophies'

Author: Grafiati
Published: 4 June 2021
Last updated: 1 February 2022

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Journal articles on the topic "Leukodystrophies"

1

van der Knaap, Marjo S., Nicole I. Wolf, and Vivi M. Heine. "Leukodystrophies." Neurology: Clinical Practice 6, no. 6 (2016): 506–14. http://dx.doi.org/10.1212/cpj.0000000000000289.

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Lyon, Gilles, Aviva Fattal-Valevski, and Edwin H. Kolodny. "Leukodystrophies." Topics in Magnetic Resonance Imaging 17, no. 4 (2006): 219–42. http://dx.doi.org/10.1097/rmr.0b013e31804c99d4.

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Costello, Daniel J., April F. Eichler, and Florian S. Eichler. "Leukodystrophies." Neurologist 15, no. 6 (2009): 319–28. http://dx.doi.org/10.1097/nrl.0b013e3181b287c8.

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Barañano, Kristin. "Leukodystrophies." Seminars in Neurology 36, no. 04 (2016): 362–66. http://dx.doi.org/10.1055/s-0036-1585455.

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Waldman, Amy T. "Leukodystrophies." CONTINUUM: Lifelong Learning in Neurology 24, no. 1 (2018): 130–49. http://dx.doi.org/10.1212/con.0000000000000560.

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Leite, Claudia Costa, Leandro Tavares Lucato, Germana Titoneli Santos, Fernando Kok, Anderson Rodrigues Brandão, and Mauricio Castillo. "Imaging of adult leukodystrophies." Arquivos de Neuro-Psiquiatria 72, no. 8 (2014): 625–32. http://dx.doi.org/10.1590/0004-282x20140095.

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Leukodystrophies are genetically determined white matter disorders. Even though leukodystrophies essentially affect children in early infancy and childhood, these disorders may affect adults. In adults, leukodystrophies may present a distinct clinical and imaging presentation other than those found in childhood. Clinical awareness of late-onset leukodystrophies should be increased as new therapies emerge. MRI is a useful tool to evaluate white matter disorders and some characteristics findings can help the diagnosis of leukodystrophies. This review article briefly describes the imaging charact
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Lindquist, Diana, and Kim Cecil. "Primary leukodystrophies." Journal of Pediatric Neuroradiology 02, no. 01 (2015): 033–45. http://dx.doi.org/10.3233/pnr-13045.

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8

Powers, James M., and Ana Rubio. "Selected leukodystrophies." Seminars in Pediatric Neurology 2, no. 3 (1995): 200–210. http://dx.doi.org/10.1016/s1071-9091(05)80031-2.

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Köhler, Wolfgang, Julian Curiel, and Adeline Vanderver. "Adulthood leukodystrophies." Nature Reviews Neurology 14, no. 2 (2018): 94–105. http://dx.doi.org/10.1038/nrneurol.2017.175.

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Menkes, John H. "The Leukodystrophies." New England Journal of Medicine 322, no. 1 (1990): 54–55. http://dx.doi.org/10.1056/nejm199001043220110.

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Dissertations / Theses on the topic "Leukodystrophies"

1

Kaminski, Debora [Verfasser]. "Intrazerebroventrikuläre Enzymersatztherapie der Metachromatischen Leukodystrophie / Debora Kaminski." Bonn : Universitäts- und Landesbibliothek Bonn, 2014. http://d-nb.info/1061041875/34.

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Stein, Axel [Verfasser]. "Neuroinflammation in Mausmodellen der Metachromatischen Leukodystrophie / Axel Stein." Bonn : Universitäts- und Landesbibliothek Bonn, 2016. http://d-nb.info/1119888581/34.

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Depiets, Bérengère. "Etude physiopathologique de modèles murins de leucodystrophies dysmyélinisantes et approche thérapeutique." Thesis, Clermont-Ferrand 1, 2012. http://www.theses.fr/2012CLF1MM04/document.

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Les mutations du gène des protéolipoprotéines, PLP1, codant des protéines structurales majeures de la myéline du système nerveux central : PLP et DM20, sont responsables d'un sous-groupe de leucodystrophies dysmyélinisantes liées à l'X. La forme la plus sévère, la maladie de Pelizaeus-Merzbacher (PMD), induite principalement par des duplications du gène conduit à une hypomyélinisation majeure ; tandis que la forme la plus modérée, la paraplégie spastique de type 2 (SPG2), induite par des mutations non-sens ou des délétions du gène conduit à une myéline mal compactée et une dégénérescence axona
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Brysch, Klaudia [Verfasser]. "De- und Remyelinisierung im Mausmodell der Metachromatischen Leukodystrophie / Klaudia Brysch." Bonn : Universitäts- und Landesbibliothek Bonn, 2019. http://d-nb.info/1200019938/34.

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Redin, Claire. "NGS-based approaches for the diagnosis of intellectual disability and other genetically heterogeneous developmental disorders." Thesis, Strasbourg, 2014. http://www.theses.fr/2014STRAJ129/document.

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Certaines maladies héréditaires monogéniques sont caractérisées par une grande hétérogénéité génétique. Chez des individus présentant un phénotype clinique similaire, les mutations causales peuvent être retrouvées dans un des gènes parmi un sous-ensemble décrits comme impliqués dans la maladie. Cette hétérogénéité génétique limite considérablement les offres diagnostiques pour les patients, et une majorité reste sans diagnostic moléculaire. Nous avons développé une approche diagnostique alternative par séquençage à haut débit ciblé (ciblant spécifiquement les régions codantes des gènes d’intér
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Uhlenberg, Birgit [Verfasser]. "Klinische und genetische Aspekte bei Muskeldystrophie Duchenne und Becker und hypomyelinisierenden Leukodystrophien / Birgit Uhlenberg." Berlin : Medizinische Fakultät Charité - Universitätsmedizin Berlin, 2009. http://d-nb.info/1027813720/34.

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Zech, Isabell [Verfasser]. "Substratreduktionstherapie der Metachromatischen Leukodystrophie: Expression der Cerebrosid-Sulfotransferase und Etablierung einer hochdurchsatzfähigen Aktivitätsbestimmung / Isabell Zech." Bonn : Universitäts- und Landesbibliothek Bonn, 2013. http://d-nb.info/1044972076/34.

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Erwes, Kim Lina [Verfasser]. "Patientenspezifische induziert pluripotente Stammzellen als Modellsystem zur Untersuchung der lysosomalen Speichererkrankung Metachromatische Leukodystrophie / Kim Lina Erwes." Bonn : Universitäts- und Landesbibliothek Bonn, 2017. http://d-nb.info/1150777737/34.

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Erwes, Kim Lina [Verfasser]. "Patientenspezifische induziert pluripotente Stammzellen als Modellsystem zur Untersuchung der lysosomalen Speichererkrankung Metachromatische Leukodystrophie / Kim Lina Erwes." Bonn : Universitäts- und Landesbibliothek Bonn, 2019. http://d-nb.info/1178162303/34.

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Weißenberg, Christine [Verfasser], and Gernot [Akademischer Betreuer] Bruchelt. "Analytik von Galaktocerebrosid-3-sulfat im Urin zur Diagnostik der Metachromatischen Leukodystrophie / Christine Weißenberg ; Betreuer: Gernot Bruchelt." Tübingen : Universitätsbibliothek Tübingen, 2011. http://d-nb.info/1161464654/34.

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Books on the topic "Leukodystrophies"

1

Leukodystrophies. Mac Keith Press, 2011.

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Schrifl, Ulrike, SakkuBai Naidu, and Ali Fatemi. Leukodystrophies. Oxford University Press, 2017. http://dx.doi.org/10.1093/med/9780199937837.003.0070.

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The term “leukodystrophies” refers to a group of genetic diseases characterized by degeneration of white matter in the central nervous system. Depending on the type of leukodystrophy, the phenotype can range from early infantile-onset, rapid, progressive forms to adult-onset slowly progressive variants. The understanding, definition, and classification have been enhanced greatly by the combined use of neuroimaging, especially MRI, and genetic techniques. The window for targeted therapeutic interventions remains brief and management is often limited to symptomatic, supportive, and palliative ca
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News, PM Medical Health. 21st Century Complete Medical Guide to Leukodystrophies: Authoritative Government Documents, Clinical References, and Practical Information for Patients and Physicians. Progressive Management, 2004.

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Johnston, MD, Michael, Harold Adams Jr., MD, and Ali Fatemi, MD, MBA. Neurobiology of Disease. Oxford University Press, 2017. http://dx.doi.org/10.1093/med/9780199937837.001.0001.

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Neurobiology of Disease includes nearly 200 brief but substantial survey chapters on all the major disorders of the nervous system in both adults and children from the perspective of cutting edge neurobiology that is relevant to diagnosis and treatment. The chapters are written mostly by clinicians who are experts and thought leaders in their fields, and who are also active participants in clinical and/or basic research. Readers can find information about recent discoveries that are having a clinical impact, as well as reliable information about the new genetic discoveries that are driving dia
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Book chapters on the topic "Leukodystrophies"

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Perlman, Seth J., and Soe Mar. "Leukodystrophies." In Advances in Experimental Medicine and Biology. Springer US, 2012. http://dx.doi.org/10.1007/978-1-4614-0653-2_13.

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Cecil, Kim M., and Diana M. Lindquist. "Leukodystrophies." In MR Spectroscopy of Pediatric Brain Disorders. Springer New York, 2012. http://dx.doi.org/10.1007/978-1-4419-5864-8_10.

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Salsano, Ettore, and Davide Pareyson. "Leukodystrophies." In Prognosis of Neurological Diseases. Springer Milan, 2015. http://dx.doi.org/10.1007/978-88-470-5755-5_14.

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Nusbaum, Annette O. "Imaging Leukodystrophies." In Bioimaging in Neurodegeneration. Humana Press, 2005. http://dx.doi.org/10.1007/978-1-59259-888-5_20.

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Pastores, Gregory M., and Swati A. Sathe. "Leukoencephalopathies/leukodystrophies." In Non-Alzheimer's and Atypical Dementia. John Wiley & Sons, Ltd, 2016. http://dx.doi.org/10.1002/9781118797662.ch12.

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Jorge, M. S., and Marianna Bugiani. "Astroglia in Leukodystrophies." In Neuroglia in Neurodegenerative Diseases. Springer Singapore, 2019. http://dx.doi.org/10.1007/978-981-13-9913-8_9.

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Ramji, Saipriya, Frederik Barkhof, and Kshitij Mankad. "Leukodystrophies and Inherited Metabolic Conditions." In Clinical Neuroradiology. Springer International Publishing, 2019. http://dx.doi.org/10.1007/978-3-319-61423-6_33-1.

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Escolar, Maria L., and Mieke Aldenhoven. "Leukodystrophies and Lysosomal Storage Disorders." In Stem Cell Biology and Regenerative Medicine. Springer New York, 2013. http://dx.doi.org/10.1007/978-1-4614-8357-1_4.

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Ramji, Saipriya, Frederik Barkhof, and Kshitij Mankad. "Leukodystrophies and Inherited Metabolic Conditions." In Clinical Neuroradiology. Springer International Publishing, 2019. http://dx.doi.org/10.1007/978-3-319-68536-6_33.

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Bertini, Enrico, and Shamima Rahman. "Mitochondrial Neurodegenerative Disorders II: Ataxia, Dystonia and Leukodystrophies." In Diagnosis and Management of Mitochondrial Disorders. Springer International Publishing, 2019. http://dx.doi.org/10.1007/978-3-030-05517-2_15.

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Conference papers on the topic "Leukodystrophies"

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De Lucia, S., F. Renaldo, K. Boussaid, et al. "Natural History in Leukodystrophies Related to POLR3A and POLR3B Mutations: A Multicentric Survey of 21 Pediatric Cases." In Abstracts of the 47th Annual Meeting of the SENP (Société Européenne De Neurologie Pédiatrique). Georg Thieme Verlag KG, 2019. http://dx.doi.org/10.1055/s-0039-1685424.

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Gerhards, TC, M. Rullmann, S. Haars, et al. "Multimodale Bildgebung von Leukodystrophien mit [18F]Florbetaben-PET/MRT." In NuklearMedizin 2019. Georg Thieme Verlag KG, 2019. http://dx.doi.org/10.1055/s-0039-1683665.

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