label: url

en: Increase in the amyotrophic lateral sclerosis age of onset: Analysis of cases originating in 2011-2020

ja: 筋萎縮性側索硬化症の発症年齢の上昇:2011年から2020年に発症した症例の解析

en: The Journal of Medical Investigation : JMI


en: Magnetic Susceptibility and Area in the Subthalamic Nucleus Measured by QSM for Diagnosis of Progressive Supranuclear Palsy

en: Movement Disorders Clinical Practice

ja: Movement Disorders Clinical Practice


en: Intermediate phenotype between CMT2Z and DIGFAN associated with a novel MORC2 variant: a case report.

en: Charcot-Marie-Tooth disease type 2Z is caused by MORC2 mutations and presents with axonal neuropathy. MORC2 mutations can also manifest as developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy (DIGFAN). We report a patient exhibiting an intermediate phenotype between these diseases associated with a novel MORC2 variant. A literature review revealed that the genotype‒phenotype correlation in MORC2-related disorders is complex and that the same mutation can cause a variety of phenotypes.

en: Human Genome Variation

ja: Human Genome Variation


en: Segmental Zoster Paresis Accompanied by Horner's Syndrome.

en: We herein report a 90-year-old immunocompromised woman who developed right upper limb weakness and right ptosis with a miotic pupil 1 week after oral therapy for zoster on the right T2 dermatome. The right pupil was dilated with instillation of 1% apraclonidine, indicating Horner's syndrome. The patient was treated with intravenous acyclovir and methylprednisolone. Focal weakness related to zoster, generally known as segmental zoster paresis, improved over five months, but Horner's syndrome remained. We suggest that aggressive intravenous treatment should be considered for rare cases of zoster that occur with a combination of these two neurological conditions.

en: Internal Medicine

ja: Internal Medicine


en: 広範な血栓性静脈炎を呈し腸管ベーチェット病が疑われた1例

ja: 広範な血栓性静脈炎を呈し腸管ベーチェット病が疑われた1例

en: Hifuka No Rinsho

ja: 皮膚科の臨床