Results 71 to 80 of about 1,850 (182)

Neuroaxonal Dystrophy With Osteopetrosis Associated With a Novel Biallelic Nonsense Homozygous Variant in BORCS5

American Journal of Medical Genetics Part A, Volume 197, Issue 11, November 2025.
ABSTRACT Neuroaxonal dystrophy (NAD) with osteopetrosis syndrome (OMIM # 600329) was first reported in a consanguineous Moroccan Jewish family. However, to date, no genetic variant has been linked to this disease. We report on sibs, born to consanguineous Pakistani parents identified prenatally with cerebral ventriculomegaly and agenesis of the corpus ...
Yael Fisher, Orli Greenberg, Patrick Shannon, Andrea Staines, Bobbi McGivern, Melanie Patricia Napier, David Chitayat   +6 more
wiley   +1 more source

A new insight into the phase transition in the early Universe with two Higgs doublets

Journal of High Energy Physics, 2018
We study the electroweak phase transition in the alignment limit of the CP-conserving two-Higgs-doublet model (2HDM) of Type I and Type II. The effective potential is evaluated at one-loop, where the thermal potential includes Daisy corrections and is ...
Jérémy Bernon, Ligong Bian, Yun Jiang
doaj   +1 more source

Analyse zweier Kandidatengene für Neurodegeneration mit Eisenablagerung im Gehirn (NBIA)

, 2016
The two candidate genes SLC39A14 and WDR45 were investigated in patients with the clinical diagnosis of neurodegeneration with brain iron accumulation (NBIA).
Cuno, Stephan Matthias
core  

BPAN: the only X-linked dominant NBIA disorder.

, 2013
Beta-propeller protein-associated neurodegeneration (BPAN) is the most recently identified subtype of neurodegeneration with brain iron accumulation (NBIA), being unique with respect to the underlying disease genetics, the associated clinical ...
Haack, Tobias B;Hogarth, Penny;Gregory, Allison;Prokisch, Holger;Hayflick, Susan J
core   +2 more sources

Modeling human Coenzyme A synthase mutation in yeast reveals altered mitochondrial function, lipid content and iron metabolism

Microbial Cell, 2015
Mutations in nuclear genes associated with defective coenzyme A biosynthesis have been identified as responsible for some forms of neurodegeneration with brain iron accumulation (NBIA), namely PKAN and CoPAN.
Camilla Ceccatelli Berti, Cristina Dallabona, Mirca Lazzaretti, Sabrina Dusi, Elena Tosi, Valeria Tiranti, Paola Goffrini   +6 more
doaj   +1 more source

Neurodegeneration with brain iron accumulation

Annals of Indian Academy of Neurology, 2019
The term NBIA encompasses a heterogeneous group of inherited disorders characterized clinically by progressive extra pyramidal syndrome and pathologically by excessive iron deposition in brain, primarily affecting the basal ganglia (globus pallidus ...
Amit Batla, Chandana Gaddipati
doaj   +1 more source

Adult‐Onset BPAN: An Atypical Presentation Mimicking Early‐Onset Parkinson's Disease

Movement Disorders Clinical Practice, Volume 12, Issue 12, Page 2357-2360, December 2025.
Mariana H.G. Monje, Padmaja Vittal, Ignacio Juan Keller Sarmiento, Lisa Kinsley, Dimitri Krainc, Niccolò E. Mencacci   +5 more
wiley   +1 more source

Hereditary spastic paraplegia type 43 (SPG43) is caused by mutation in C19orf12. [PDF]

, 2013
We report here the genetic basis for a form of progressive hereditary spastic paraplegia (SPG43) previously described in two Malian sisters. Exome sequencing revealed a homozygous missense variant (c.187G>C; p.Ala63Pro) in C19orf12, a gene recently ...
A. Dürr, Johnson, Janel O, S. Tsuji, Ishiura, Hiroyuki, Fischbeck, Kenneth H, Burnett, Barrington G, Gonzalez, Michael A, Toro, Camilo, N. Hein, Züchner, Stephan, Landis, Dennis MD, C. M. Lourenço, Traynor, Bryan J, W. Marques, L. G. Biesecker, Zhu, Peng-Peng, H. Ishiura, Stevanin, Giovanni, M. A. Gonzalez, J. K. Fink, Diallo, Oumarou, Nicholson, Garth, Accardi, John, Meilleur, Katherine G, Gonzalez, Michael, B. J. Traynor, Blackstone, Craig, G. Stevanin, RINALDI, CARLO, P. Zhu, Bricceno, Katherine V, J. O. Johnson, Pierson, Tyler M, K. G. Meilleur, M. Sangaré, C. Blackstone, Dürr, Alexandra, O. Diallo, N. I. H., Center, for the NIH Intramural Sequencing, M. Stoll, D. M. D, K. H. Fischbeck, G. Landouré, Zhu, Peng‐Peng, Hein, Nichole, Gahl, William A, Sangaré, Modibo, Speziani, Fiorella, T. M. Pierson, B. G. Burnett, Landis, Dennis M. D, C. Toro, Stoll, Marion, K. V. Bricceno, Tsuji, Shoji, J. Accardi, G. Nicholson, Landouré, Guida, Marques, Wilson, Fink, John K, S. Züchner, W. A. Gahl, F. Speziani, Biesecker, Leslie G, Lourenço, Charles M   +65 more
core   +1 more source

Dystonia and Ataxia Associated with Brain Iron Accumulation: Expanding the Phenotype of NPTX1‐Spinocerebellar Ataxia 50

Movement Disorders, Volume 40, Issue 12, Page 2836-2838, December 2025.
Gianmarco Dalla Zanna, Alessandra Tessa, Salvatore Rossi, Antonio Funcis, Francesca Brambati, Anna Modoni, Rosellina Russo, Paolo Calabresi, Filippo Maria Santorelli, Gabriella Silvestri   +9 more
wiley   +1 more source

Alterations of red cell membrane properties in neuroacanthocytosis.

PLoS ONE, 2013
Neuroacanthocytosis (NA) refers to a group of heterogenous, rare genetic disorders, namely chorea acanthocytosis (ChAc), McLeod syndrome (MLS), Huntington's disease-like 2 (HDL2) and pantothenate kinase associated neurodegeneration (PKAN), that mainly ...
Claudia Siegl, Patricia Hamminger, Herbert Jank, Uwe Ahting, Benedikt Bader, Adrian Danek, Allison Gregory, Monika Hartig, Susan Hayflick, Andreas Hermann, Holger Prokisch, Esther M Sammler, Zuhal Yapici, Rainer Prohaska, Ulrich Salzer   +14 more
doaj   +1 more source