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학술연구/단체지원/교육 등 연구자 활동을 지속하도록 DBpia가 지원하고 있어요.
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논문 유사도에 따라 DBpia 가 추천하는 논문입니다. 함께 보면 좋을 연관 논문을 확인해보세요!
Novel Pathogenic Variant of SPAST (c.1413+4A>G) in a Patient with Hereditary Spastic Paraplegia
Journal of Clinical Neurology
2019 .01
Pure or Complex Hereditary Spastic Paraplegia Type 4?
Journal of Clinical Neurology
2019 .01
A Novel Homozygous CAPN1 Pathogenic Variant in a Chinese Patient with Pure Hereditary Spastic Paraplegia
Journal of Clinical Neurology
2019 .01
Hereditary Spastic Paraplegia with Axonal Sensorimotor Polyneuropathy in a Korean Family Caused by Pathogenic Variant of KIF5A (c.611G>A)
Journal of Clinical Neurology
2020 .01
Re: Comments on “Pure or Complex Hereditary Spastic Paraplegia Type 4?”: The Authors Respond
Journal of Clinical Neurology
2019 .01
Novel SPG4 Mutation in a Patient with Sporadic Hereditary Spastic Paraplegia and Elevated Cerebrospinal Fluid Protein
Journal of Clinical Neurology
2021 .01
Rapidly Progressive Behavioral Syndrome Without Spastic Paraplegia in a Patient With SPAST p.Pro26Thr Variant
Dementia and Neurocognitive Disorders(대한치매학회지)
2022 .04
Hereditary spastic paraplegia with thin corpus callosum due to novel homozygous mutation in SPG11 gene
Annals of Clinical Neurophysiology
2020 .01
Hereditary Frontotemporal Dementia Linked to the Pathogenic p.L266V Variant of the MAPT Gene in Korea
Journal of Clinical Neurology
2021 .01
Identification of the CFAP410 Pathogenic Variants in a Korean Patient with Autosomal Recessive Retinitis Pigmentosa and Skeletal Anomalies
Korean Journal of Ophthalmology
2020 .01
Clinical and Pathological Findings of a Korean Family with Pathogenic Variants of the TTN Gene
Journal of Clinical Neurology
2017 .01
Prenatal Diagnosis of a Fatal Case of Fetal Autosomal Dominant Polycystic Kidney Disease
Perinatology
2023 .03
Spectrum of MNX1 Pathogenic Variants and Associated Clinical Features in Korean Patients with Currarino Syndrome
Annals of Laboratory Medicine
2018 .01
Hereditary cancer panel and clinical application
대한외과학회 학술대회 초록집
2016 .11
A Compound Heterozygous Pathogenic Variant in B4GALNT1 Is Associated With Axonal Charcot-Marie-Tooth Disease
Journal of Clinical Neurology
2021 .10
A new phenotype of TUBB4A mutation in a family with adult-onset progressive spastic paraplegia and isolated hypomyelination leukodystrophy: A case report and literature review
Journal Of Movement Disorders
2024 .01
Spectrum of Novel Hereditary Hemorrhagic Telangiectasia Variants in an Austrian Patient Cohort
Clinical and Experimental Otorhinolaryngology
2019 .01
Optical Coherence Tomography Findings Facilitate the Diagnosis of Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay
Korean Journal of Ophthalmology
2021 .01
Paraplegia Due to Aortic Occlusion from a Fungal Ball
Journal of Clinical Neurology
2021 .01
Novel Pathogenic Missense NF1-Variant Associated With Cognitive Impairment
Dementia and Neurocognitive Disorders(대한치매학회지)
2024 .01
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