Results 1 to 10 of about 1,850 (182)

Iron Dyshomeostasis in Neurodegeneration with Brain Iron Accumulation (NBIA): Is It the Cause or the Effect? [PDF]

Cells
Iron is an essential metal ion implicated in several cellular processes. However, the reactive nature of iron renders this metal ion potentially dangerous for cells, and its levels need to be tightly controlled.
Francesco Agostini, Marco Bisaglia
exaly   +8 more sources

Quantitative Iron Measurements in the Basal Ganglia of NBIA Patients Using QSM : Insights From a Tertiary Center [PDF]

Annals of Clinical and Translational Neurology
Objective Neurodegeneration with brain iron accumulation (NBIA) comprises rare genetic disorders characterized by predominantly extrapyramidal symptoms and iron deposition in the basal ganglia.
Neşe Tuncer, Özge Uygun, Alpay Ozcan   +2 more
exaly   +4 more sources

Emerging Disease-Modifying Therapies in Neurodegeneration With Brain Iron Accumulation (NBIA) Disorders [PDF]

Frontiers in Neurology, 2021
Neurodegeneration with Brain Iron Accumulation (NBIA) is a heterogeneous group of progressive neurodegenerative diseases characterized by iron deposition in the globus pallidus and the substantia nigra.
Ivan Karin, Thomas Klopstock, Susanne A Schneider   +2 more
exaly   +9 more sources

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

EBioMedicine, 2022
Summary: 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.
Jing Tan, Thomas Meitinger, Matias Wagner   +2 more
exaly   +4 more sources

A Comprehensive Overview of the Clinical, Electrophysiological, and Neuroimaging Features of BPAN: Insights From a New Case Series [PDF]

Annals of Clinical and Translational Neurology
Background Neurodegeneration with brain iron accumulation (NBIA) comprises a genetically and clinically heterogeneous group of rare neurological disorders characterized particularly by iron accumulation in the basal ganglia.
Seda Susgun, Ozgu Kizek, Sibel Aylin Ugur Iseri, Ibrahim Kamaci, Ayse Deniz Elmali, Pinar Iscen, Berfin Gulkaya Guzel, Gul Yalcin Cakmakli, Bulent Elibol, Berril Donmez, Raif Cakmur, Pinar Topaloglu, Turkish NBIA Study Group, Nerses Bebek, Murat Emre, Zuhal Yapici   +15 more
doaj   +3 more sources

Exploring the genetic and genomic connection underlying neurodegeneration with brain iron accumulation and the risk for Parkinson’s disease [PDF]

npj Parkinson's Disease, 2023
Neurodegeneration with brain iron accumulation (NBIA) represents a group of neurodegenerative disorders characterized by abnormal iron accumulation in the brain. In Parkinson’s Disease (PD), iron accumulation is a cardinal feature of degenerating regions
Pilar Alvarez Jerez, Jose Luis Alcantud, Lucia de los Reyes-Ramírez, Anni Moore, Clara Ruz, Francisco Vives Montero, Noela Rodriguez-Losada, Prabhjyot Saini, Ziv Gan-Or, Chelsea X. Alvarado, Mary B. Makarious, Kimberley J. Billingsley, Cornelis Blauwendraat, Alastair J. Noyce, Andrew B. Singleton, Raquel Duran, Sara Bandres-Ciga   +16 more
doaj   +2 more sources

Neurodegeneration with Brain Iron Accumulation: Diagnosis and Management [PDF]

Journal of Movement Disorders, 2015
Neurodegeneration with brain iron accumulation (NBIA) encompasses a group of inherited disorders that share the clinical features of an extrapyramidal movement disorder accompanied by varying degrees of intellectual disability and abnormal iron ...
Penelope Hogarth
doaj   +2 more sources

Loss of mouse C19orf12 homolog disturbs tubular ER homeostasis and leads to neuroaxonal dystrophy [PDF]

Acta Neuropathologica Communications
Neurodegeneration with brain iron accumulation (NBIA) is a group of rare diseases associated with genetic mutations in several genes including C19orf12.
Fengqin Wu, Sandra L. Siedlak, Sabina Bhatta, Samia Khaled, Changjuan Shao, Sandy Torres, Hisashi Fujioka, Wenzhang Wang   +7 more
doaj   +2 more sources

BRAIN IRON ACCUMULATION: DON’T FORGET ACERULOPLASMINEMIA [PDF]

Euromediterranean Biomedical Journal, 2020
Aceruloplasminemia is a rare autosomal recessive disease, affecting iron metabolism, with typical onset in adulthood. It is brought about by mutations in the ceruloplasmin gene. Laboratory investigations reveal microcytic anemia, elevated serum ferritin,
Paola Feraco
doaj   +1 more source

Generation of a human induced pluripotent stem cell (iPSC) line (IBMS-iPSC-070-02) from a patient with neurodegeneration with brain iron accumulation (NBIA) having compound heterozygous mutations in PANK2 gene

Stem Cell Research, 2021
Neurodegeneration with brain iron accumulation (NBIA) is a genetically and phenotypically heterogeneous group of inherited neurodegenerative disorder characterized by basal ganglia iron deposition.
Chih-Hsin Ou-Yang, Chun-Hwei Tai, Han-Yi Lin, Cheng-Yen Huang, Chin-Hsien Lin   +4 more
doaj   +1 more source