Clinicopathological features of adult-onset neuronal intranuclear inclusion disease

Jun Sone, Keiko Mori, Tomonori Inagaki, +29

Brain

Neurological DisorderCorticobasal DegenerationPathologyDermatologyAlzheimer's Disease +15

Clinical and genetic characterization of adult‐onset leukoencephalopathy with axonal spheroids and pigmented glia associated with <i><scp>CSF</scp>1R</i> mutation

Takuya Konno, Kunihiro Yoshida, Toshiki Mizuno, +8

European Journal of Neurology

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

Chizuru Akimoto, Alexander E. Volk, Marka van Blitterswijk, +40

Journal of Medical Genetics

Haploinsufficiency of <i>CSF-1R</i> and clinicopathologic characterization in patients with HDLS

Takuya Konno, Masayoshi Tada, Mari Tada, +20

Neurology

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

Akihide Koyama, Akihiro Sugai, Taisuke Kato, +11

Nucleic Acids Research

Synaptic SignalingSocial SciencesTranscriptional RegulationAbnormal AutoregulationDegenerative Pathology +16

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

Takuya Konno, Atsushi Shiga, Akira Tsujino, +9

Journal of Neurology Neurosurgery & Psychiatry

Diagnostic criteria for adult‐onset leukoencephalopathy with axonal spheroids and pigmented glia due to <i><scp>CSF</scp>1R</i> mutation

Takuya Konno, K. Yoshida, Ikuko Mizuta, +7

European Journal of Neurology

Hypertrophic olivary degeneration: A clinico-radiologic study

Takuya Konno, Daniel F. Broderick, Paweł Tacik, +2

Parkinsonism & Related Disorders

HistopathologyPathologyDegenerative DiseaseHypertrophic Olivary DegenerationMedicine

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

Takuya Konno, Daniel F. Broderick, Naomi Mezaki, +11

American Journal of Neuroradiology

Familial idiopathic basal ganglia calcification: Histopathologic features of an autopsied patient with an <i>SLC20A2</i> mutation

Tadashi Kimura, Takeshi Miura, Kenju Aoki, +7

Neuropathology

Basal GangliaCorticobasal DegenerationNeurological DisorderPathologyGlioma +16