List of works - Takuya Konno - Paulina

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List of works by Takuya Konno

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Haploinsufficiency of CSF-1R and clinicopathologic characterization in patients with HDLS.

scientific article published on 13 December 2013

A blinded international study on the reliability of genetic testing for GGGGCC-repeat expansions in C9orf72 reveals marked differences in results among 14 laboratories

scientific article

Japanese amyotrophic lateral sclerosis patients with GGGGCC hexanucleotide repeat expansion in C9ORF72.

scientific article published on 25 September 2012

Increased cytoplasmic TARDBP mRNA in affected spinal motor neurons in ALS caused by abnormal autoregulation of TDP-43

scientific article published on 02 June 2016

Familial idiopathic basal ganglia calcification: Histopathologic features of an autopsied patient with an SLC20A2 mutation.

scientific article published on 4 December 2015

Diagnostic Value of Brain Calcifications in Adult-Onset Leukoencephalopathy with Axonal Spheroids and Pigmented Glia.

scientific article published on 15 September 2016

A Japanese family with idiopathic basal ganglia calcification with novel SLC20A2 mutation presenting with late-onset hallucination and delusion.

scientific article published on 10 December 2013

Variable expression of microglial DAP12 and TREM2 genes in Nasu-Hakola disease.

scientific article

Characteristic microglial features in patients with hereditary diffuse leukoencephalopathy with spheroids

scientific article published on 4 August 2016

Heterogeneity of cerebral TDP-43 pathology in sporadic amyotrophic lateral sclerosis: Evidence for clinico-pathologic subtypes

scientific article published on 23 June 2016

Bunina bodies in motor and non-motor neurons revisited: a pathological study of an ALS patient after long-term survival on a respirator

scientific article published on 20 January 2014

Comparison of clinical features among Parkinson's disease subtypes: A large retrospective study in a single center

scientific article

Cerebral peduncle angle: Unreliable in differentiating progressive supranuclear palsy from other neurodegenerative diseases

scientific article

C9ORF72 repeat-associated non-ATG-translated polypeptides are distributed independently of TDP-43 in a Japanese patient with c9ALS.

scientific article

Toward allele-specific targeting therapy and pharmacodynamic marker for spinocerebellar ataxia type 3

scientific article published on 01 October 2020