Cargando…

FTL mutation in a Chinese pedigree with neuroferritinopathy

Detalles Bibliográficos
Autores principales:	Ni, Wang, Li, Hong-Fu, Zheng, Yi-Cen, Wu, Zhi-Ying
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Wolters Kluwer 2016
Materias:	Clinical/Scientific Notes
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4851275/ https://www.ncbi.nlm.nih.gov/pubmed/27158664 http://dx.doi.org/10.1212/NXG.0000000000000074

Ejemplares similares

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

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

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

A novel neuroferritinopathy mouse model (FTL 498InsTC) shows progressive brain iron dysregulation, morphological signs of early neurodegeneration and motor coordination deficits
por: Maccarinelli, Federica, et al.
Publicado: (2015)

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)

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

Novel Ferritin Light Chain Gene Mutation in a Korean Patient with Neuroferritinopathy
por: Yoon, So Hoon, et al.
Publicado: (2019)

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

FtlA and FtlB Are Candidates for Inclusion in a Next-Generation Multiantigen Subunit Vaccine for Lyme Disease
por: Camire, Andrew C., et al.
Publicado: (2022)

Paroxysmal Kinesigenic Dyskinesia Caused by 16p11.2 Microdeletion and Related Clinical Features
por: Chen, Yu-Lan, et al.
Publicado: (2022)

Expression of Ferritin Light Chain (FTL) Is Elevated in Glioblastoma, and FTL Silencing Inhibits Glioblastoma Cell Proliferation via the GADD45/JNK Pathway
por: Wu, Tingfeng, et al.
Publicado: (2016)

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

Spinocerebellar ataxia type 10 in Chinese Han
por: Wang, Kang, et al.
Publicado: (2015)

Adenomatous Polyposis Coli Gene Mutations in 22 Chinese Pedigrees with Familial Adenomatous Polyposis
por: Wang, Dan, et al.
Publicado: (2019)

Moyamoya-like cerebrovascular disease in a child with a novel mutation in myosin heavy chain 11
por: Keylock, Annette, et al.
Publicado: (2018)

Novel GRN mutation presenting as an aphasic dementia and evolving into corticobasal syndrome
por: Botha, Hugo, et al.
Publicado: (2017)

Paraneoplastic cerebellar degeneration associated with noncutaneous Merkel cell carcinoma
por: Zhang, Cen, et al.
Publicado: (2014)

Rapid progressive ALS in a patient with a DNAJC7 loss-of-function mutation
por: Jih, Kang-Yang, et al.
Publicado: (2020)

WDR45 mutations may cause a MECP2 mutation-negative Rett syndrome phenotype
por: Kulikovskaja, Leonora, et al.
Publicado: (2018)

Pathogenic mtDNA mutations causing mitochondrial myopathy: The need for muscle biopsy
por: Hardy, Steven A., et al.
Publicado: (2016)

Herpes simplex virus 2 encephalitis in a patient heterozygous for a TLR3 mutation
por: Hautala, Timo, et al.
Publicado: (2020)

Progressive multifocal leukoencephalopathy and granule cell neuronopathy with novel mutation flanking VP1 C-terminus in natalizumab-extended interval dosing
por: Rempe, Torge, et al.
Publicado: (2020)

Progressive myoclonus epilepsy associated with SACS gene mutations
por: Nascimento, Fábio A., et al.
Publicado: (2016)

Missense mutations in DYT-TOR1A dystonia
por: Iqbal, Zafar, et al.
Publicado: (2019)

TNNI1 Mutated in Autosomal Dominant Proximal Arthrogryposis
por: Nishimori, Yukako, et al.
Publicado: (2021)

Identification of a novel compound heterozygous IDUA mutation underlies Mucopolysaccharidoses type I in a Chinese pedigree
por: Zhou, Yong‐An, et al.
Publicado: (2019)

The m.13051G>A mitochondrial DNA mutation results in variable neurology and activated mitophagy
por: Dombi, Eszter, et al.
Publicado: (2016)

Novel mutation in mitochondrial DNA in 2 siblings with Leigh syndrome
por: Veerapandiyan, Aravindhan, et al.
Publicado: (2016)

Posterior reversible encephalopathy syndrome is not associated with mutations in aquaporin-4
por: Matiello, Marcelo, et al.
Publicado: (2015)

SPG7 mutations are a common cause of undiagnosed ataxia
por: Pfeffer, Gerald, et al.
Publicado: (2015)

PUS3 mutations are associated with intellectual disability, leukoencephalopathy, and nephropathy
por: de Paiva, Anderson Rodrigues Brandão, et al.
Publicado: (2019)

Deoxyguanosine kinase mutation producing juvenile-onset mitochondrial myopathy
por: Komal, F.N.U., et al.
Publicado: (2018)

Galloping tongue syndrome in a PRRT2 mutation carrier
por: Vilas, Dolores, et al.
Publicado: (2019)

Adult-onset leukoencephalopathy with homozygous LAMB1 missense mutation
por: Yasuda, Rei, et al.
Publicado: (2020)

White matter involvement in a family with a novel PDGFB mutation
por: Biancheri, Roberta, et al.
Publicado: (2016)

Homozygous GNAL mutation associated with familial childhood-onset generalized dystonia
por: Masuho, Ikuo, et al.
Publicado: (2016)

Multiple sequential antibody-associated syndromes with a recurrent mutated neuroblastoma
por: Amini, Ali, et al.
Publicado: (2016)

Epidermolysis bullosa simplex with muscular dystrophy associated with PLEC deletion mutation
por: Alvarez, Valeria Carolina, et al.
Publicado: (2016)

Extensive Analysis of GmFTL and GmCOL Expression in Northern Soybean Cultivars in Field Conditions
por: Guo, Guangyu, et al.
Publicado: (2015)

Cannot write session to /tmp/vufind_sessions/sess_h8dgmppotok2it30slc8s11cg6