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List of works by Katsuya Nakamura

A novel CACNA1A nonsense variant in a patient presenting with paroxysmal exertion-induced dyskinesia

scientific article published on 01 March 2019

A novel frameshift mutation of SYNE1 in a Japanese family with autosomal recessive cerebellar ataxia type 8.

scientific article published on 26 October 2017

A novel nonsense mutation in a Japanese family with ataxia with oculomotor apraxia type 2 (AOA2)

scientific article published on 06 November 2009

A novel nonsense mutation in the TITF-1 gene in a Japanese family with benign hereditary chorea

scientific article published on 05 October 2011

Autosomal-recessive complicated spastic paraplegia with a novel lysosomal trafficking regulator gene mutation

scientific article published on 12 February 2014

Clinical and serial MRI findings of a sialidosis type I patient with a novel missense mutation in the NEU1 gene

scientific article published in January 2013

Hypertrophic Pachymeningitis as an Early Manifestation of Relapsing Polychondritis: Case Report and Review of the Literature.

scientific article published on September 2016

Idiopathic cerebellar ataxia (IDCA): Diagnostic criteria and clinical analyses of 63 Japanese patients

scientific article published on 7 November 2017

Inter-generational instability of inserted repeats during transmission in spinocerebellar ataxia type 31.

scientific article published on 22 June 2017

Natural History of Spinocerebellar Ataxia Type 31: a 4-Year Prospective Study.

scientific article published on 9 November 2016

Prevalence of Fabry disease and GLA c.196G>C variant in Japanese stroke patients

scientific article published on 9 March 2017

Response to Satomura et al

scientific article published on 01 August 2014

Severity and progression rate of cerebellar ataxia in 16q-linked autosomal dominant cerebellar ataxia (16q-ADCA) in the endemic Nagano Area of Japan

scientific article published in March 2009

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