Atypical presentations in an RTD patient and report of novel SLC52A3 and SLC52A2 mutations-Reference-Cited by-同舟云学术

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Atypical presentations in an RTD patient and report of novel SLC52A3 and SLC52A2 mutations

Published:2024-07-04 Issue:4 Volume:124 Page:1363-1370
ISSN:0300-9009
Container-title:Acta Neurologica Belgica
language:en
Short-container-title:Acta Neurol Belg

Author:

Sabeghi Donya,InanlooRahatloo Kolsoum,Mirzadeh Hanieh S.,Khani Marzieh,Shamshiri Hosein,Taghavi Tarannomsadat,Alavi Afagh,Boostani Reza,Tonekaboni Seyed Hassan,Akhondian Javad,Ebrahimi Masoomah,Salehi Najmeh,Nafissi Shahriar,Elahi Elahe

Funder

Tehran University of Medical Sciences and Health Services

Iran National Science Foundation

Publisher

Springer Science and Business Media LLC

Link

https://link.springer.com/content/pdf/10.1007/s13760-024-02598-7.pdf

Reference33 articles.

1. BROWN CH (1894) Infantile amyotrophic lateral sclerosis of the family type. J Nerv Ment Dis 19(11):707–716

2. Vialetto E (1936) Contributo alla forma ereditaria della paralisi bulbare progressiva. Riv Sper Freniat 40:1–24

3. Van Laere J (1966) Paralysie bulbo-pontine chronique progressive familiale avec surdité. Un cas de syndrome de Klippel-Trenaunay Dans La même fratrie. Problèmes diagnostiques et génétiques. Rev Neurol 115:289–295

4. Manole A, Jaunmuktane Z, Hargreaves I, Ludtmann MHR, Salpietro V, Bello OD et al (2017) Clinical, pathological and functional characterization of riboflavin-responsive neuropathy. Brain 140(11):2820–2837

5. Sathasivam S (2008) Brown-Vialetto-Van Laere syndrome. Orphanet J Rare Dis 3:9

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