21-jährige Patientin mit progredienter Paraspastik bei infantiler Zerebralparese

Author:

Wilfling S.,Koch V.,Gaßner H.,Hehr U.,Winkler J.,Regensburger M.

Publisher

Springer Science and Business Media LLC

Reference13 articles.

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2. Krieg SI, Krägeloh-Mann I, Groeschel S, Beck-Wödl S, Husain RA, Schöls L, Kehrer C (2020) Natural history of Krabbe disease—a nationwide study in Germany using clinical and MRI data. Orphanet J Rare Dis 15(1):243. https://doi.org/10.1186/s13023-020-01489-3 (PMID: 32912261; PMCID: PMC7488349)

3. Mächtel R, Dobert JP, Hehr U, Weiss A, Kettwig M, Laugwitz L, Groeschel S, Schmidt M, Arnold P, Regensburger M, Zunke F (2024) Late-onset Krabbe disease presenting as spastic paraplegia—implications of GCase and CTSB/D. Ann Clin Transl Neurol. https://doi.org/10.1002/acn3.52078 (Epub ahead of print. PMID: 38837642)

4. Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL, ACMG Laboratory Quality Assurance Committee (2015) Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med 17(5):405–424. https://doi.org/10.1038/gim.2015.30 (Epub 2015 Mar 5. PMID: 25741868; PMCID: PMC4544753)

5. Vulinovic F, Krajka V, Hausrat TJ, Seibler P, Alvarez-Fischer D, Madoev H, Park JS, Kumar KR, Sue CM, Lohmann K, Kneussel M, Klein C, Rakovic A (2018) Motor protein binding and mitochondrial transport are altered by pathogenic TUBB4A variants. Hum Mutat 39(12):1901–1915. https://doi.org/10.1002/humu.23602 (Epub 2018 Sep 7. Erratum in: Hum Mutat. 2019 Dec;40(12):2444. PMID: 30079973.)

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