Novel compound heterozygous variants of SPG11 gene associated with young-adult amyotrophic lateral sclerosis

Acta Neurol Belg. 2023 Aug;123(4):1627-1629. doi: 10.1007/s13760-022-02148-z. Epub 2022 Nov 29.

Cláudia Santos Silva^#^{1

2}, Miguel Oliveira Santos^#^{3

4}, João Madureira^{4

5}, Sofia Reimão^{4

5}, Mamede de Carvalho^{3

4}

¹ Department of Neurosciences and Mental Health, Hospital de Santa Maria, Centro Hospitalar Universitário Lisboa-Norte, Avenida Professor Egas Moniz, 1649-035, Lisbon, Portugal. csantosilva2@gmail.com.
² Faculty of Medicine-Instituto de Medicina Molecular, Universidade de Lisboa, Avenida Professor Egas Moniz, 1649-035, Lisbon, Portugal. csantosilva2@gmail.com.
³ Department of Neurosciences and Mental Health, Hospital de Santa Maria, Centro Hospitalar Universitário Lisboa-Norte, Avenida Professor Egas Moniz, 1649-035, Lisbon, Portugal.
⁴ Faculty of Medicine-Instituto de Medicina Molecular, Universidade de Lisboa, Avenida Professor Egas Moniz, 1649-035, Lisbon, Portugal.
⁵ Department of Neuroradiology, Hospital de Santa Maria, Centro Hospitalar Universitário Lisboa-Norte, Lisbon, Portugal.

^# Contributed equally.

No abstract available

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