Cargando…

A Novel KCND3 Variant in a Korean Family With SCA19

Detalles Bibliográficos
Autores principales:	Ha, Hongmin, Kim, Minkyeong, Chung, Bora, Lee, Chan Hyun, Oh, Seung Hwan, Kang, Heeyoung, Kwon, Oh-Young
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Korean Neurological Association 2022
Materias:	Letter to the Editor
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8762501/ https://www.ncbi.nlm.nih.gov/pubmed/35021282 http://dx.doi.org/10.3988/jcn.2022.18.1.90

Ejemplares similares

Spinocerebellar Ataxia 13 Presenting with Pure Cerebellar Syndrome in a Korean Family
por: Kim, Minkyeong, et al.
Publicado: (2020)

Rare KCND3 Loss-of-Function Mutation Associated With the SCA19/22
por: Li, Mengjie, et al.
Publicado: (2022)

A case of adult-onset leukoencephalopathy with axonal spheroids and pigmented glia presenting with alien hand syndrome
por: Chung, Bora, et al.
Publicado: (2022)

Clinical and Pathological Findings of a Korean Family with Pathogenic Variants of the TTN Gene
por: Park, Hyung Jun, et al.
Publicado: (2017)

The First Korean Family With Boucher-Neuhäuser Syndrome Carrying a Novel Mutation in PNPLA6
por: Chung, Eun Joo, et al.
Publicado: (2022)

Novel KCND3 Variant Underlying Nonprogressive Congenital Ataxia or SCA19/22 Disrupt K(V)4.3 Protein Expression and K+ Currents with Variable Effects on Channel Properties
por: Zanni, Ginevra, et al.
Publicado: (2021)

V374A KCND3 Pathogenic Variant Associated With Paroxysmal Ataxia Exacerbations
por: Paucar, Martin, et al.
Publicado: (2021)

KCND3 potassium channel gene variant confers susceptibility to electrocardiographic early repolarization pattern
por: Teumer, Alexander, et al.
Publicado: (2019)

Association of Cardiac Electrical Disorders With KCND3 Gene Mutation
por: Ahammed, Md Ripon, et al.
Publicado: (2023)

scaRNAs and snoRNAs: Are they limited to specific classes of substrate RNAs?
por: Deryusheva, Svetlana, et al.
Publicado: (2019)

Rare Gain-of-Function KCND3 Variant Associated with Cerebellar Ataxia, Parkinsonism, Cognitive Dysfunction, and Brain Iron Accumulation
por: Hsiao, Cheng-Tsung, et al.
Publicado: (2021)

An E280K Missense Variant in KCND3/Kv4.3—Case Report and Functional Characterization
por: Ågren, Richard, et al.
Publicado: (2023)

Pathogenic Variant of REEP1 in a Korean Family with Autosomal-Dominant Hereditary Spastic Paraplegia
por: Park, Hyung Jun, et al.
Publicado: (2018)

First Identification of Compound Heterozygous FKRP Mutations in a Korean Patient with Limb-Girdle Muscular Dystrophy
por: Park, Hyung Jun, et al.
Publicado: (2016)

KCND3-Related Neurological Disorders: From Old to Emerging Clinical Phenotypes
por: Pollini, Luca, et al.
Publicado: (2020)

KCND2: A prognostic biomarker and regulator of immune function in gastric cancer
por: Zhou, Hongying, et al.
Publicado: (2023)

WHIM Syndrome With a Novel CXCR4 Variant in a Korean Child
por: Shin, Dong Woo, et al.
Publicado: (2017)

Spontaneous Intracranial Hypotension as a Cause of Subdural Hematoma in a Patient with Cerebral Venous Thrombosis on Anticoagulation Treatment
por: Kim, Min Ok, et al.
Publicado: (2020)

Investigation of the Neutralizing Antibody Response of Healthcare Workers at a Korean University Hospital Six Months After the Introduction of the COVID-19 Vaccine
por: Choi, Seong-Ho, et al.
Publicado: (2022)

A novel KCND3 mutation associated with early-onset lone atrial fibrillation
por: Huang, Yuan, et al.
Publicado: (2017)

Cardiocerebral channelopathy caused by KCND3 mutation in a child: A case report
por: Zhang, Yi, et al.
Publicado: (2022)

A Second Case With the V374A KCND3 Pathogenic Variant in an Italian Patient With Early-Onset Spinocerebellar Ataxia
por: Palombo, Flavia, et al.
Publicado: (2022)

Is there any quality improvement in the randomized controlled trial abstracts in the Korean Journal of Anesthesiology after the publication of the CONSORT abstract guidelines in 2008?
por: Shin, Woo Jong, et al.
Publicado: (2015)

The First Korean Case of VEXAS Syndrome Caused by a UBA1 Somatic Variant
por: Yoon, Jihoon G., et al.
Publicado: (2023)

Gelsolin variant amyloidosis mimicking progressive bulbar palsy
por: Park, Jinseok, et al.
Publicado: (2022)

Real‐world outcomes of ibrutinib therapy in Korean patients with relapsed or refractory mantle cell lymphoma: a multicenter, retrospective analysis
por: Yi, Jun Ho, et al.
Publicado: (2021)

Hemoglobin Kansas: First Korean Family and Literature Review
por: Jo, Irene, et al.
Publicado: (2017)

The First Korean Case of High-Molecular-Weight Kininogen Deficiency, With a Novel Variant, c.488delG, in the KNG1 Gene
por: Jeong, Dajeong, et al.
Publicado: (2020)

Split Hand Syndrome in a Family with GARS-Associated Axonal Neuropathy
por: Kang, You-Ri, et al.
Publicado: (2019)

Ultrasonographic measurement of subclavian vein diameter and regression modeling in pediatric patients from a single Korean facility
por: Oh, Min Hye, et al.
Publicado: (2014)

Frequency of SCA8, SCA10, SCA12, SCA36, FXTAS and C9orf72 repeat expansions in SCA patients negative for the most common SCA subtypes
por: Aydin, Gülsah, et al.
Publicado: (2018)

Analysis of SCA8, SCA10, SCA12, SCA17 and SCA19 in patients with unknown spinocerebellar ataxia: a Thai multicentre study
por: Choubtum, Lulin, et al.
Publicado: (2015)

First Cases of Spinocerebellar Ataxia 42 in Two Korean Families
por: Son, Hyoshin, et al.
Publicado: (2023)

Identification of Compound Heterozygous Mutations in the BBS7 Gene in a Korean Family with Bardet-Biedl Syndrome
por: Shin, Seok Joon, et al.
Publicado: (2015)

Hereditary Spastic Paraplegia with Axonal Sensorimotor Polyneuropathy in a Korean Family Caused by Pathogenic Variant of KIF5A (c.611G>A)
por: Lee, Hyungwoo, et al.
Publicado: (2020)

Idiopathic Aquagenic Wrinkling of the Palms in Korean Patients
por: Kim, Dae-Woo, et al.
Publicado: (2015)

Genetic Spectrum of UGT1A1 in Korean Patients with Unconjugated Hyperbilirubinemia
por: Kim, Jin Ju, et al.
Publicado: (2020)

Early repolarization syndrome caused by de novo duplication of KCND3 detected by next-generation sequencing
por: Chauveau, Samuel, et al.
Publicado: (2017)

Long non-coding RNA KCND1 protects hearts from hypertrophy by targeting YBX1
por: Yang, Rui, et al.
Publicado: (2023)

Frequency of hereditary neuropathy with liability to pressure palsies (HNPP) due to 17p11.2 deletion in a Korean newborn population
por: Park, Jong Eun, et al.
Publicado: (2018)

Cannot write session to /tmp/vufind_sessions/sess_8n6865230dgvmjdhte4es0vet1