Results 61 to 70 of about 1,850 (182)

‘What's in a Name?’ Naming Genetically Determined Movement Disorders: Gap and Controversy

Movement Disorders, Volume 41, Issue 2, Page 342-350, February 2026.
Abstract In 2016, the International Parkinson and Movement Disorder Society (MDS) Task Force for Genetic Nomenclature in Movement Disorders laid out a new proposal for naming genetically determined movement disorders. This proposal sought to address the difficulties arising from the practical usage of numbered loci (eg, DYT1, DYT2, DYT3, etc.) as names
Connie Marras, Alberto Albanese, Mark Hallett, Christine Klein, Katja Lohmann, the Genetic Nomenclature in Movement Disorders Study Group Steering Committee, Christos Ganos, Sarah Camargos, Anthony E. Lang, Darius Ebrahimi‐Fakhari, Claudia Del Gamba, Bart van de Warrenburg, Lakshya Basumatary, Lara Lange, Diana Olszewska, Zhidong Cen, Kishore Kumar, Mohamed Zahir, Carolyn Sue, H.A. Jinnah   +19 more
wiley   +1 more source

Neurodegeneration with brain iron accumulation: a differential diagnosis of cerebral palsy

The Egyptian Journal of Neurology, Psychiatry and Neurosurgery, 2023
Background Brain iron accumulation neurodegeneration (NBIA) comprises a group of rare diseases characterized by deposits of this metal in brain structures.
Alana Ferreira de Andrade, Grace Kelly dos Santos Guimarães, João Ferreira da Silva, Bruno Manuel Moura de Sousa, Marcos Manoel Honorato, Renata Maria de Carvalho Cremaschi, Fernando Morgadinho Santos Coelho   +6 more
doaj   +1 more source

Elevated Plasma Phospho‐Tau217 in Beta‐Propeller Protein‐Associated Neurodegeneration

Movement Disorders, EarlyView.
Jae‐Hyeok Lee, Yun Soo Kim
wiley   +1 more source

Exome Sequencing Reveals De Novo WDR45 Mutations Causing a Phenotypically Distinct, X-Linked Dominant Form of NBIA

, 2012
Neurodegeneration with brain iron accumulation (NBIA) is a group of genetic disorders characterized by abnormal iron deposition in the basal ganglia.
Cuno, Stephan M., Kara, E., Harik, Sami I., Gregory, Allison, Hardy, John, Cuno, S.M., Hogarth, Penelope, Houlden, H.H., Mignot, C., Hogarth, P., Dandu, V.H., Boddaert, Nathalie, Hardy, J., Mignot, Cyril, Schwarzmayr, T., Zorzi, G., Dandu, Vasuki H., Haack, T.B., Hayflick, S.J., Kurian, Manju A., Hayflick, Susan J., Boddaert, N., Strom, T.M., Frucht, Steven, Wieland, T., Prokisch, H., Bhatia, Kailash, Haack, Tobias B., Harik, S.I., Skinner, Steven, Prokisch, Holger, Nardocci, N., Schrander-Stumpel, Connie, Gregory, A., Tarnopolsky, Mark, Skinner, S., Hanspal, E., Tarnopolsky, M., Schwarzmayr, Thomas, Schrander-Stumpel, C., Graf, Elisabeth, Dunaway, T., Héron, Delphine, Meitinger, Thomas, Dunaway, Todd, Bhatia, K., Hanspal, Era, Strom, Tim M., Meyer, E., Sanford, L., Frucht, S., Heron, D., Garavaglia, Barbara, Graf, E., Nardocci, Nardo, Meyer, Esther, Kurian, M.A., Houlden, Henry H., Meitinger, T., Wieland, Thomas, Zorzi, Giovanna, Sanford, Lynn, Kruer, M.C., Kruer, Michael C., Garavaglia, B., Kara, Eleanna   +65 more
core   +2 more sources

Self-mutilation in neurodegeneration with brain iron accumulation

Indian Journal of Dermatology, 2015
Neurodegeneration with brain iron accumulation (NBIA) is the term applied to a heterogeneous group of disorders resulting in iron deposition in the basal ganglia.
Sadanandavalli Retnaswami Chandra, Pawan Raj, Thomas Gregor Issac   +2 more
doaj   +1 more source

Functional mRNA analysis reveals aberrant splicing caused by novel intronic mutation in WDR45 in NBIA patient [PDF]

, 2018
WDR45 gene-associated neurodegeneration with brain iron accumulation (NBIA), referred to as beta-propeller protein-associated neurodegeneration (BPAN), is a rare disorder that presents with a very nonspecific clinical phenotype in children constituting ...
Willoughby, J, Raghavan, A, Kurian, M., DDD Study, Duff-Farrier, C, Desurkar, A, Willoughby, J., Balasubramanian, M., Duff-Farrier, C., Balasubramanian, M, Raghavan, A., Kurian, M, Desurkar, A.   +12 more
core   +1 more source

Late Onset Neurodegeneration with Brain-Iron Accumulation Presenting as Parkinsonism

Case Reports in Neurological Medicine, 2012
Neurodegeneration with brain-iron accumulation (NBIA) encompasses a family of neurodegenerative disorders connected by evidence of abnormal brain iron deposition.
Robert Fekete
doaj   +1 more source

Brain, blood, and iron: Perspectives on the roles of erythrocytes and iron in neurodegeneration

Neurobiology of Disease, 2012
The terms “neuroacanthocytosis” (NA) and “neurodegeneration with brain iron accumulation” (NBIA) both refer to groups of genetically heterogeneous disorders, classified together due to similarities of their phenotypic or pathological findings.
Rainer Prohaska, Ody C.M. Sibon, Dobrila D. Rudnicki, Adrian Danek, Susan J. Hayflick, Esther M. Verhaag, Jan J. Vonk, Russell L. Margolis, Ruth H. Walker   +8 more
doaj   +1 more source

Impairment of Drosophila orthologs of the human orphan protein C19orf12 induces bang sensitivity and neurodegeneration.

PLoS ONE, 2014
Mutations in the orphan gene C19orf12 were identified as a genetic cause in a subgroup of patients with NBIA, a neurodegenerative disorder characterized by deposits of iron in the basal ganglia. C19orf12 was shown to be localized in mitochondria, however,
Arcangela Iuso, Ody C M Sibon, Matteo Gorza, Katharina Heim, Cristina Organisti, Thomas Meitinger, Holger Prokisch   +6 more
doaj   +1 more source

Nbias: A natural language processing framework for BIAS identification in text

Expert Systems with Applications
Bias in textual data can lead to skewed interpretations and outcomes when the data is used. These biases could perpetuate stereotypes, discrimination, or other forms of unfair treatment. An algorithm trained on biased data may end up making decisions that disproportionately impact a certain group of people. Therefore, it is crucial to detect and remove
Shaina Raza, Muskan Garg, Deepak John Reji, Syed Raza Bashir, Chen Ding 0004   +4 more
openaire   +2 more sources