Results 71 to 80 of about 630 (120)

Mitochondrial membrane protein-associated neurodegeneration: a case report and literature review

, 2018
Mitochondrial membrane protein-associated neurodegeneration (MPAN) is an autosomal recessive disorder caused by mutation in the C19orf12 gene. We report a compound heterozygous c.[32C>T];[205G>A;424A>G] (p.[Thr11Met];[Gly69Arg;Lys142Glu]) Czech patient ...
Pavel Dušek (5613659), Jan Roth (419817), David Školoudík (3219939), Petr Dušek (121791)   +3 more
core   +1 more source

Application of Machine Learning in Predicting Hepatic Metastasis or Primary Site in Gastroenteropancreatic Neuroendocrine Tumors. [PDF]

Curr Oncol, 2023
Padwal MK, Basu S, Basu B.
europepmc   +1 more source

ePosters

European Journal of Neurology, Volume 31, Issue S1, June 2024.
wiley   +1 more source

'Comb Sign': A Novel Appearance of Substantia Nigra in Mitochondrial Membrane Protein-Associated Neurodegeneration. [PDF]

Ann Indian Acad Neurol, 2023
Garg D, Agarwal A, Garg A, Rajan R, Srivastava AK.   +4 more
europepmc   +1 more source

ePosters Virtual

European Journal of Neurology, Volume 31, Issue S1, June 2024.
wiley   +1 more source

Modeling C19orf12 deficiency in mammalian cells and zebrafish

La categoria Neurodegenerazione con Accumulo di Ferro nel Cervello (NBIA) comprende un gruppo di malattie neurodegenerative caratterizzate dall'accumulo eponimo di ferro nel parenchima cerebrale, specialmente nei gangli della base.
GNUTTI, Barbara
core  

New NBIA subtype: Genetic, clinical, pathologic, and radiographic features of MPAN

, 2013
Objective: to assess the frequency of mutations in C19orf12 in the greater neurodegeneration with brain iron accumulation (NBIA) population and further characterize the associated phenotype.Methods: samples from 161 individuals with idiopathic NBIA were ...
Green, S., Berry-Kravis, E., Reese, L., Foulds, N.C., Desguerre, I., Diedrich, A., Wilson, C., Woltjer, R.L., Hayflick, S.J., Wagoner, W., Rodriguez, D., Kruer, M.C., Hammans, S.R., Tran, H., Natowicz, M.R., Egel, R.T., Sanford, L., Hogarth, P., Gregory, A., Subramony, S.H., Goldman, J.G.   +20 more
core   +1 more source

Mitochondrial membrane protein associated neurodegenration: A novel variant of neurodegeneration with brain iron accumulation

, 2013
Background Recently, mutations in an open-reading frame on chromosome 19 (C19orf12) were identified as a novel genetic factor in neurodegeneration with brain iron accumulation (NBIA). Because of the mitochondrial localization of the derived protein, this
Claussen, Malte C; https://orcid.org/, Haun-Jünger, Ursula, Ilg, Rüdiger, Claussen, M.C., Ilg, R., Haack, T.B., Hemmer, B., Jochim, A., Jochim, Angela, Winkelmann, Juliane, Schulte, E.C., Prokisch, H., Schulte, Eva C, Hartig, M., Haack, Tobias, Winkelmann, J., Hartig, Monika, Haun-Junger, U., Prokisch, Holger, Hempel, Maja, Hemmer, Bernhard, Hempel, M., Forschler, A., Förschler, Annette   +23 more
core   +1 more source

Subcellular localization of a recently identified NBIA gene

, 2015
NBIA – Neurodegeneration mit Eisenablagerung im Gehirn – ist eine Gruppe seltener progressiv verlaufender, zum Großteil autosomal-rezessiv vererbter Erkrankungen.
Siegel, Birgit
core  

Western blot for HA-Nazo Perilipin-2 interaction.

Lipid dyshomeostasis has been implicated in a variety of diseases ranging from obesity to neurodegenerative disorders such as Neurodegeneration with Brain Iron Accumulation (NBIA).
Neya More (17941479), Perinthottathil Sreejith (13751648), Rajnish Bharadwaj (17941482), Sara Lolo (17941470), Maduka Gunasinghe (17941476), Kristen R. Patten (17941473), Leo J. Pallanck (9291325)   +6 more
core   +1 more source