https://orcid.org/0000-0002-3952-9265
References
- Orban, P., Devon, R. S., Hayden, M. R., & Leavitt, B. R. (2007). Chapter 15 Juvenile amyotrophic lateral sclerosis. In Handbook of Clinical Neurology (pp. 301–312). Elsevier. https://doi.org/10.1016/s0072-9752(07)80018-2
- Logroscino G, Traynor BJ, Hardiman O, Chiò A, Mitchell D, Swingler RJ, EURALS, et al. Incidence of amyotrophic lateral sclerosis in Europe. J Neurol Neurosurg Psychiatry. 2010;81:385–90.
- Chen L. FUS mutation is probably the most common pathogenic gene for JALS, especially sporadic JALS. Rev Neurol. 2021;177:333–40.
- Naruse H, Ishiura H, Mitsui J, Takahashi Y, Matsukawa T, Toda T, et al. Juvenile amyotrophic lateral sclerosis with complex phenotypes associated with novel SYNE1 mutations. Amyotroph Lateral Scler Frontotemporal Degener. 2020;1:1–3.
- Cortese A, Zhu Y, Rebelo AP, Negri S, Courel S, Abreu L, Inherited Neuropathy Consortium, et al. Biallelic mutations in SORD cause a common and potentially treatable hereditary neuropathy with implications for diabetes. Nat Genet. 2020;52:473–81.
- Rossor AM, Kalmar B, Greensmith L, Reilly MM. The distal hereditary motor neuropathies. J Neurol Neurosurg Psychiatry. 2012;83:6–14.
- Menon P, Kiernan MC, Yiannikas C, Stroud J, Vucic S. Split-hand index for the diagnosis of amyotrophic lateral sclerosis. Clin Neurophysiol. 2013;124:410–6.
- Hwang JJ, Jiang L, Hamza M, Dai F, Belfort-DeAguiar R, Cline G, Rothman DL, et al. The human brain produces fructose from glucose. JCI Insight. 2017;2:e90508.
- Tourrière H, Chebli K, Zekri L, Courselaud B, Blanchard JM, Bertrand E, et al. The RasGAP-associated endoribonuclease G3BP assembles stress granules. J Cell Biol. 2003;160:823–31.
- Zhang Y, Gu J, Sun Q. Aberrant stress granule dynamics and aggrephagy in ALS pathogenesis. Cells 2021;10:2247.