Cargando…

Lifetime risk of autosomal recessive neurodegeneration with brain iron accumulation (NBIA) disorders calculated from genetic databases

BACKGROUND: Neurodegeneration with brain iron accumulation (NBIA) are a group of clinically and genetically heterogeneous diseases characterized by iron overload in basal ganglia and progressive neurodegeneration. Little is known about the epidemiology of NBIA disorders. In the absence of large-scal...

Descripción completa

Detalles Bibliográficos
Autores principales:	Kolarova, Hana, Tan, Jing, Strom, Tim M., Meitinger, Thomas, Wagner, Matias, Klopstock, Thomas
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Elsevier 2022
Materias:	Articles
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8856992/ https://www.ncbi.nlm.nih.gov/pubmed/35180557 http://dx.doi.org/10.1016/j.ebiom.2022.103869

Ejemplares similares

Lifetime risk of autosomal recessive mitochondrial disorders calculated from genetic databases
por: Tan, Jing, et al.
Publicado: (2020)

Emerging Disease-Modifying Therapies in Neurodegeneration With Brain Iron Accumulation (NBIA) Disorders
por: Iankova, Vassilena, et al.
Publicado: (2021)

Corrigendum to “Lifetime risk of autosomal recessive mitochondrial disorders calculated from genetic databases” [EBioMedicine 54 (2020) 102730]
por: Tan, Jing, et al.
Publicado: (2020)

Treat Iron-Related Childhood-Onset Neurodegeneration (TIRCON)—An International Network on Care and Research for Patients With Neurodegeneration With Brain Iron Accumulation (NBIA)
por: Karin, Ivan, et al.
Publicado: (2021)

Genetics and Pathophysiology of Neurodegeneration with Brain Iron Accumulation (NBIA)
por: Schneider, Susanne A, et al.
Publicado: (2013)

Mitochondrial Dysfunction, Oxidative Stress and Neuroinflammation in Neurodegeneration with Brain Iron Accumulation (NBIA)
por: Hinarejos, Isabel, et al.
Publicado: (2020)

An international registry for neurodegeneration with brain iron accumulation
por: Kalman, Bernadette, et al.
Publicado: (2012)

A Brief History of NBIA Gene Discovery
por: Hayflick, Susan J.
Publicado: (2023)

Cortical pencil lining on SWI MRI in NBIA and healthy aging
por: van der Weijden, Marlous C. M., et al.
Publicado: (2019)

Self-Mutilation in Neurodegeneration with Brain Iron Accumulation
por: Chandra, Sadanandavalli Retnaswami, et al.
Publicado: (2015)

Neurodegeneration with Brain Iron Accumulation
por: Batla, Amit, et al.
Publicado: (2019)

Long-Term Neuroradiological and Clinical Evaluation of NBIA Patients Treated with a Deferiprone Based Iron-Chelation Therapy
por: Romano, Nicola, et al.
Publicado: (2022)

Autosomal Recessive Stickler Syndrome
por: Nixon, Thomas R. W., et al.
Publicado: (2022)

Genetics of Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS) and Role of Sacsin in Neurodegeneration
por: Bagaria, Jaya, et al.
Publicado: (2022)

Adductor laryngeal breathing dystonia in NBIA treated with botulinum toxin-A
por: Rai, Vinod, et al.
Publicado: (2013)

Neurodegeneration with Brain Iron Accumulation: An Overview
por: TONEKABONI, Seyed Hassan, et al.
Publicado: (2014)

NBIA: a network-based integrative analysis framework – applied to pathway analysis
por: Nguyen, Tin, et al.
Publicado: (2020)

Autosomal recessive cerebellar ataxias
por: Palau, Francesc, et al.
Publicado: (2006)

Neurodegeneration with Brain Iron Accumulation: Diagnosis and Management
por: Hogarth, Penelope
Publicado: (2015)

An exome sequencing strategy to diagnose lethal autosomal recessive disorders
por: Ellard, Sian, et al.
Publicado: (2015)

Autosomal recessive polycystic kidney disease diagnosed in fetus
por: Thomas, Joseph, et al.
Publicado: (2007)

HACE1 deficiency causes an autosomal recessive neurodevelopmental syndrome
por: Hollstein, Ronja, et al.
Publicado: (2015)

Neurodegeneration with brain iron accumulation: update on pathogenic mechanisms
por: Levi, Sonia, et al.
Publicado: (2014)

Neurodegeneration with brain iron accumulation: A case report
por: Nassif, Daniel, et al.
Publicado: (2016)

Eye-of-the-tiger Sign in Neurodegeneration with Brain Iron Accumulation
por: Goldberg, Madeline, et al.
Publicado: (2019)

Vicious cycle of lipid peroxidation and iron accumulation in neurodegeneration
por: Villalón-García, Irene, et al.
Publicado: (2022)

Autosomal recessive myotonia congenita in sheep
por: Moore, GA, et al.
Publicado: (1997)

Autosomal Recessive Polycystic Kidney Disease
por: Salati, Sajad Ahmad
Publicado: (2014)

Genetics of autosomal recessive intellectual disability
por: Jamra, Rami
Publicado: (2018)

Autosomal Recessive Inheritance: Cystic Fibrosis
por: Goldstein, D. Yitzchak, et al.
Publicado: (2017)

Autosomal Recessive Polycystic Kidney Disease
por: Hafer, Ashley S., et al.
Publicado: (2017)

Autosomal recessive bestrophinopathy with macular hole
por: Hirawat, Raj Shri, et al.
Publicado: (2020)

Zebrafish Models of Autosomal Recessive Ataxias
por: Quelle-Regaldie, Ana, et al.
Publicado: (2021)

Autosomal recessive osteopetrosis: mechanisms and treatments
por: Penna, Sara, et al.
Publicado: (2021)

Animal Models of Autosomal Recessive Parkinsonism
por: Bastioli, Guendalina, et al.
Publicado: (2021)

Autosomal recessive limb-girdle muscular dystrophies in the Czech Republic
por: Stehlíková, Kristýna, et al.
Publicado: (2014)

A neurodegeneration gene, WDR45, links impaired ferritinophagy to iron accumulation
por: Aring, Luisa, et al.
Publicado: (2021)

Mutations in RELT cause autosomal recessive amelogenesis imperfecta
por: Kim, Jung‐Wook, et al.
Publicado: (2018)

Late Onset Neurodegeneration with Brain-Iron Accumulation Presenting as Parkinsonism
por: Fekete, Robert
Publicado: (2012)

Brain MRI Pattern Recognition in Neurodegeneration With Brain Iron Accumulation
por: Lee, Jae-Hyeok, et al.
Publicado: (2020)

Cannot write session to /tmp/vufind_sessions/sess_ie2mht6tasdnrnhd92r303p970