List of works - Shoji Tsuji

A Prospective, Multicenter, Randomized Phase II Study to Evaluate the Efficacy and Safety of Eculizumab in Patients with Guillain-Barré Syndrome (GBS): Protocol of Japanese Eculizumab Trial for GBS (JET-GBS)

scientific article (publication date: 7 November 2016)

A novel homozygous mutation of the TFG gene in a patient with early onset spastic paraplegia and later onset sensorimotor polyneuropathy

scientific article published on 22 November 2018

Adrenoleukodystrophy siblings with a novel ABCD1 missense variant presenting with phenotypic differences: a case report and literature review

scientific article published on 30 October 2020

Amnionless-mediated glycosylation is crucial for cell surface targeting of cubilin in renal and intestinal cells.

scientific article

Chronic cerebral hypoperfusion shifts the equilibrium of amyloid β oligomers to aggregation-prone species with higher molecular weight

scientific article published on 26 February 2019

Clinical and Genetic Features of Multiplex Families with Multiple System Atrophy and Parkinson’s Disease

scientific article published in 2022

Clinical features of inherited neuropathy with BSCL2 mutations in Japan

scientific article published on 28 February 2020

Expansions of intronic TTTCA and TTTTA repeats in benign adult familial myoclonic epilepsy.

scientific article published on 5 March 2018

Functional evaluation of PDGFB-variants in idiopathic basal ganglia calcification, using patient-derived iPS cells

scientific article published on 05 April 2019

Intronic ATTTC repeat expansions in STARD7 in familial adult myoclonic epilepsy linked to chromosome 2

scientific article published on 29 October 2019

Loss-of-function variants in NEK1 are associated with an increased risk of sporadic ALS in the Japanese population

scientific article published on 12 September 2020

Noncoding CGG repeat expansions in neuronal intranuclear inclusion disease, oculopharyngodistal myopathy and an overlapping disease

scientific article published on 22 July 2019

Novel SLC20A2 variant in a Japanese patient with idiopathic basal ganglia calcification-1 (IBGC1) associated with dopa-responsive parkinsonism

scientific article published on 04 September 2019

Novel mutations in the ALDH18A1 gene in complicated hereditary spastic paraplegia with cerebellar ataxia and cognitive impairment

scientific article published on 18 June 2018

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

scientific article published on 09 October 2018

Splice-site mutations in KIF5A in the Japanese case series of amyotrophic lateral sclerosis

scientific article published on 19 August 2020

The pathogenesis linked to coenzyme Q10 insufficiency in iPSC-derived neurons from patients with multiple-system atrophy

scientific article published in Scientific Reports

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

scientific article published on 12 September 2019

List of works by Shoji Tsuji