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Clinical follow-up and histopathology of the temporal bones in Nathalie syndrome.
de Heer AM, Merchant SN, Kammeraad JA, Cruysberg JR, Huygen PL, Cremers CW. de Heer AM, et al. Audiol Neurootol. 2012;17(4):219-27. doi: 10.1159/000336212. Epub 2012 Apr 5. Audiol Neurootol. 2012. PMID: 22487897
The Nathalie syndrome (OMIM 255990) comprises a combination of features that do not resemble any other known syndrome and is as such an independent, rare entity. ...Audiometry showed a downsloping configuration that corresponded to the findings at histopathological …
The Nathalie syndrome (OMIM 255990) comprises a combination of features that do not resemble any other known syndrome and is a …
Madras motor neuron disease (MMND) is distinct from the riboflavin transporter genetic defects that cause Brown-Vialetto-Van Laere syndrome.
Nalini A, Pandraud A, Mok K, Houlden H. Nalini A, et al. J Neurol Sci. 2013 Nov 15;334(1-2):119-22. doi: 10.1016/j.jns.2013.08.003. Epub 2013 Aug 13. J Neurol Sci. 2013. PMID: 24139842 Free PMC article.
There is a considerable overlap in the phenotype of MMND with Brown-Vialetto-Van Laere syndrome (BVVL) Boltshauser syndrome, Nathalie syndrome and Fazio-Londe syndrome. Recently a number of BVVL cases and families have been described with mutations in two riboflavin …
There is a considerable overlap in the phenotype of MMND with Brown-Vialetto-Van Laere syndrome (BVVL) Boltshauser syndrome, Nathalie …