List of works - Haitian Nan - Paulina

List of works by Haitian Nan

Clinical and Genetic Study of the First Japanese FTDP-17 Patient with a Mutation of +3 in Intron 10 in the MAPT Gene

scientific article published on 17 April 2019

Exome Sequencing Reveals a Novel Homozygous Frameshift Mutation in the CYP7B1 Gene in a Japanese Patient with SPG5

article

Novel GARS mutation presenting as autosomal dominant intermediate Charcot-Marie-Tooth disease

scientific article published on 23 November 2018

Novel SLC20A2 mutation in primary familial brain calcification with disturbance of sustained phonation and orofacial apraxia

scientific article published on 27 March 2018

PLA2G6-associated neurodegeneration presenting as a complicated form of hereditary spastic paraplegia

scientific article published on 09 October 2018

Pathological findings in a patient with non-dystrophic myotonia with a mutation of the SCN4A gene; a case report.

scientific article published on 12 June 2019

UBAP1 mutations cause juvenile-onset hereditary spastic paraplegias (SPG80) and impair UBAP1 targeting to endosomes

scientific article published on 12 September 2019

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