Cargando…

Novel Ferritin Light Chain Gene Mutation in a Korean Patient with Neuroferritinopathy

Detalles Bibliográficos
Autores principales:	Yoon, So Hoon, Kim, Nan Young, Kim, Yun Joong, Lyoo, Chul Hyoung
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	The Korean Movement Disorder Society 2019
Materias:	Letter to the Editor
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6369382/ https://www.ncbi.nlm.nih.gov/pubmed/30732435 http://dx.doi.org/10.14802/jmd.18062

Ejemplares similares

A Patient with Neuroferritinopathy Presenting with Juvenile-Onset Voice Tremor
por: Park, Chan Wook, et al.
Publicado: (2020)

Neuroferritinopathy: From ferritin structure modification to pathogenetic mechanism
por: Levi, Sonia, et al.
Publicado: (2015)

Heterozygous nonsense variants in the ferritin heavy-chain gene FTH1 cause a neuroferritinopathy
por: Shieh, Joseph T., et al.
Publicado: (2023)

Clinical features and natural history of neuroferritinopathy caused by the 458dupA FTL mutation
por: Devos, David, et al.
Publicado: (2009)

Heterozygous Nonsense Variants in the Ferritin Heavy Chain Gene FTH1 Cause a Novel Pediatric Neuroferritinopathy
por: Shieh, Joseph T, et al.
Publicado: (2023)

FTL mutation in a Chinese pedigree with neuroferritinopathy
por: Ni, Wang, et al.
Publicado: (2016)

MRI Findings in Neuroferritinopathy
por: Ohta, Emiko, et al.
Publicado: (2012)

Neuroferritinopathy: iron in the brain
por: Burn, John
Publicado: (2014)

Conservative Iron Chelation for Neuroferritinopathy
por: Marchand, Felix, et al.
Publicado: (2022)

Behavioral Characterization of Mouse Models of Neuroferritinopathy
por: Capoccia, Sara, et al.
Publicado: (2015)

Sequential heart and autologous stem cell transplantation for light-chain cardiac amyloidosis
por: Huh, Jin-Young, et al.
Publicado: (2017)

Presynaptic Dopaminergic Dysfunction Was Overestimated in Huntington’s Disease Presenting as Young Age-Onset Parkinsonism
por: Kim, Taewon, et al.
Publicado: (2022)

Neuroferritinopathy: Pathophysiology, Presentation, Differential Diagnoses and Management
por: Kumar, Niraj, et al.
Publicado: (2016)

Asymmetric Parkinsonism With Progressive Nigrosomal Change Secondary to Kernohan’s Notch Phenomenon
por: Kim, Han-Kyeol, et al.
Publicado: (2022)

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

Comparing Neurofilament Light Chain Levels in Serum and Plasma
por: Kwon, Hyuk Sung, et al.
Publicado: (2023)

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

Radiofrequency Radiation and Human Ferritin
por: Wiwanitkit, Viroj
Publicado: (2013)

Ferritin levels and COVID-19
por: Vargas-Vargas, Manuel, et al.
Publicado: (2020)

Comparison of serum and urine free light chain analysis in clinical diagnosis
por: Cho, Jooyoung, et al.
Publicado: (2022)

Relationship between Serum Ferritin Levels and Dyslipidemia in Korean Adolescents
por: Kim, Young-Eun, et al.
Publicado: (2016)

Gene Mutation Analysis in a Korean Patient with Early-Onset and Recalcitrant Generalized Pustular Psoriasis
por: Song, Hyo Sang, et al.
Publicado: (2014)

Considering the inter-assay harmonization status of ferritin measurements when using serum ferritin for research on COVID-19
por: Kotani, Kazuhiko
Publicado: (2022)

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

Effects of a Korean Traditional Dance Program on Health-related Fitness and Blood Lipid Profiles in Korean Elderly Females
por: KIM, Su-Mi, et al.
Publicado: (2018)

Reply on "Characteristics and Survival of Korean Anal Cancer From the Korea Central Cancer Registry Data"
por: Park, Hyoung-Chul, et al.
Publicado: (2014)

Leber's 'Plus' in a Korean Patient with 14484/ND6 Mutation
por: Kim, Sung-Hee, et al.
Publicado: (2016)

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)

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

Reply on "Data on the Characteristics and the Survival of Korean Patients With Colorectal Cancer From the Korea Central Cancer Registry"
por: Park, Hyoung-Chul, et al.
Publicado: (2014)

Serum ferritin as a biomarker of polycythemia vera?
por: Langabeer, Stephen E.
Publicado: (2018)

Correlation between Blood Pressure and Skin Health in Korean College Female Students
por: LEE, Jeong-Hyun, et al.
Publicado: (2020)

Ferritin light chain gene mutations in two Brazilian families with hereditary hyperferritinemia-cataract syndrome
por: Petroni, Roberta Cardoso, et al.
Publicado: (2017)

Effects of the Tui-na and Thai Massage Techniques on Vascular Arterial Compliance in Middle-aged Korean Men
por: KANG, So-Hyung, et al.
Publicado: (2018)

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)

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

Repression of ferritin light chain translation by human eIF3
por: Pulos-Holmes, Mia C, et al.
Publicado: (2019)

Differences in Skin Health Outcomes according to Physical Activity Level among Korean Female College Students
por: LEE, Jeong-Hyun, et al.
Publicado: (2019)

Light chain deposition disease; there are reasons for confusion
por: Ardalan, Mohammad-Reza
Publicado: (2013)

Light chain cardiac amyloidosis in a nonagenarian
por: Takahashi, Koji, et al.
Publicado: (2022)

Cannot write session to /tmp/vufind_sessions/sess_tidqek13c2edtq59s67ks3nrtq