PMC Articles for MedGen (Select 195801) - PMC

Julia Kunz, Christiane Wiedemann, Heidrun Grosch, Katharina Kriegsmann, Stefanie Gryzik, Julia Felden, Michael Hundemer, Huriye Seker-Cin, Miriam Stenzinger, Albrecht Leo, Albrecht Stenzinger, Michael Thomas, Petros Christopoulos

Cancers (Basel) 2022 Jun; 14(11): 2720. Published online 2022 May 31. doi: 10.3390/cancers14112720

PMCID:: PMC9179520

Abstract Article PDF–1.9M

Select item 90138234.

Changes in Blood Cell Deformability in Chorea-Acanthocytosis and Effects of Treatment With Dasatinib or Lithium

Felix Reichel, Martin Kräter, Kevin Peikert, Hannes Glaß, Philipp Rosendahl, Maik Herbig, Alejandro Rivera Prieto, Alexander Kihm, Giel Bosman, Lars Kaestner, Andreas Hermann, Jochen Guck

Front Physiol. 2022; 13: 852946. Published online 2022 Apr 4. doi: 10.3389/fphys.2022.852946

PMCID:: PMC9013823

Abstract Article PDF–2.5M

Select item 88227145.

Two case reports of chorea-acanthocytosis and review of literature

Shuangfeng Huang, Junliang Zhang, Manli Tao, Yaodong Lv, Luyao Xu, Zhigang Liang

Eur J Med Res. 2022; 27: 22. Published online 2022 Feb 7. doi: 10.1186/s40001-022-00646-7

PMCID:: PMC8822714

Abstract Article PDF–1.5M

Select item 87727326.

Adaptative Up-Regulation of PRX2 and PRX5 Expression Characterizes Brain from a Mouse Model of Chorea-Acanthocytosis

Enrica Federti, Alessandro Matte, Veronica Riccardi, Kevin Peikert, Seth L. Alper, Adrian Danek, Ruth H. Walker, Angela Siciliano, Iana Iatcenko, Andreas Hermann, Lucia De Franceschi

Antioxidants (Basel) 2022 Jan; 11(1): 76. Published online 2021 Dec 29. doi: 10.3390/antiox11010076

PMCID:: PMC8772732

Abstract Article PDF–1.8M

Select item 81518627.

The Erythrocyte Sedimentation Rate and Its Relation to Cell Shape and Rigidity of Red Blood Cells from Chorea-Acanthocytosis Patients in an Off-Label Treatment with Dasatinib

Antonia Rabe, Alexander Kihm, Alexis Darras, Kevin Peikert, Greta Simionato, Anil Kumar Dasanna, Hannes Glaß, Jürgen Geisel, Stephan Quint, Adrian Danek, Christian Wagner, Dmitry A. Fedosov, Andreas Hermann, Lars Kaestner

Biomolecules. 2021 May; 11(5): 727. Published online 2021 May 12. doi: 10.3390/biom11050727

PMCID:: PMC8151862

Abstract Article PDF–5.5M

Select item 81503228.

Targeting Lyn Kinase in Chorea-Acanthocytosis: A Translational Treatment Approach in a Rare Disease

Kevin Peikert, Hannes Glaß, Enrica Federti, Alessandro Matte, Lisann Pelzl, Katja Akgün, Tjalf Ziemssen, Rainer Ordemann, Florian Lang, The Network for Translational Research for Neuroacanthocytosis Patients, Lucia De Franceschi, Andreas Hermann

J Pers Med. 2021 May; 11(5): 392. Published online 2021 May 10. doi: 10.3390/jpm11050392

PMCID:: PMC8150322

Abstract Article PDF–2.3M

Select item 81394049.

Erratum: Impaired Cytoskeletal and Membrane Biophysical Properties of Acanthocytes in Hypobetalipoproteinemia – A Case Study

Frontiers Production Office

Front Physiol. 2021; 12: 695193. Published online 2021 May 7. doi: 10.3389/fphys.2021.695193

Corrects:: Front Physiol. 2021; 12: 638027.

PMCID:: PMC8139404

Correction PDF–75K

Select item 812047510.

Corrigendum: Case Report: Chorea-Acanthocytosis Presents as Epilepsy in a Consanguineous Family With a Nonsense Mutation of in VPS13A

Fang-Mei Luo, Ming-Xing Deng, Rong Yu, Lv Liu, Liang-Liang Fan

Front Neurosci. 2021; 15: 687435. Published online 2021 Apr 30. doi: 10.3389/fnins.2021.687435

Corrects:: Front Neurosci. 2021; 15: 604715.

PMCID:: PMC8120475

Correction PDF–78K

Select item 809209811.

Chorea-acanthocytosis: A Case Report with Review of Oral Manifestations

Aadithya B. Urs, Jeyaseelan Augustine, Azhar Ahmed Khan

Contemp Clin Dent. 2021 Jan-Mar; 12(1): 73–75. Published online 2021 Mar 20. doi: 10.4103/ccd.ccd_207_20

PMCID:: PMC8092098

Abstract Article PDF–1.2M

Select item 809168712.

Therapeutic targeting of Lyn kinase to treat chorea-acanthocytosis

Kevin Peikert, Enrica Federti, Alessandro Matte, Gabriela Constantin, Enrica Caterina Pietronigro, Paolo Francesco Fabene, Paola Defilippi, Emilia Turco, Federico Del Gallo, Pietro Pucci, Angela Amoresano, Anna Illiano, Flora Cozzolino, Maria Monti, Francesca Garello, Enzo Terreno, Seth Leo Alper, Hannes Glaß, Lisann Pelzl, Katja Akgün, Tjalf Ziemssen, Rainer Ordemann, Florian Lang, Anna Maria Brunati, Elena Tibaldi, Immacolata Andolfo, Achille Iolascon, Giuseppe Bertini, Mario Buffelli, Carlo Zancanaro, Erika Lorenzetto, Angela Siciliano, Massimiliano Bonifacio, Adrian Danek, Ruth Helen Walker, Andreas Hermann, Lucia De Franceschi

Acta Neuropathol Commun. 2021; 9: 81. Published online 2021 May 3. doi: 10.1186/s40478-021-01181-y

PMCID:: PMC8091687

Abstract Article PDF–6.7M

Select item 794037313.

Impaired Cytoskeletal and Membrane Biophysical Properties of Acanthocytes in Hypobetalipoproteinemia – A Case Study

Anne-Sophie Cloos, Laura G. M. Daenen, Mauriane Maja, Amaury Stommen, Juliette Vanderroost, Patrick Van Der Smissen, Minke Rab, Jan Westerink, Eric Mignolet, Yvan Larondelle, Romano Terrasi, Giulio G. Muccioli, Andra C. Dumitru, David Alsteens, Richard van Wijk, Donatienne Tyteca

Front Physiol. 2021; 12: 638027. Published online 2021 Feb 23. doi: 10.3389/fphys.2021.638027

Correction in:: Front Physiol. 2021; 12: 695193.

PMCID:: PMC7940373

Abstract Article PDF–4.1M

Select item 792833314.

Case Report: Chorea-Acanthocytosis Presents as Epilepsy in a Consanguineous Family With a Nonsense Mutation of in VPS13A

Fang-Mei Luo, Ming-Xing Deng, Rong Yu, Lv Liu, Liang-Liang Fan

Front Neurosci. 2021; 15: 604715. Published online 2021 Feb 10. doi: 10.3389/fnins.2021.604715

Correction in:: Front Neurosci. 2021; 15: 687435.

PMCID:: PMC7928333

Abstract Article PDF–793K

Select item 785185215.

XK is a partner for VPS13A: a molecular link between Chorea-Acanthocytosis and McLeod Syndrome

Jae-Sook Park, Aaron M. Neiman

Mol Biol Cell. 2020 Oct 15; 31(22): 2425–2436. doi: 10.1091/mbc.E19-08-0439-T

PMCID:: PMC7851852

Abstract Article PDF–2.4M

Select item 750747116.

Identification of two compound heterozygous VPS13A large deletions in chorea‐acanthocytosis only by protein and quantitative DNA analysis

Derek Spieler, Antonio Velayos‐Baeza, Alžbeta Mühlbäck, Florian Castrop, Christian Maegerlein, Julia Slotta‐Huspenina, Benedikt Bader, Bernhard Haslinger, Adrian Danek

Mol Genet Genomic Med. 2020 Sep; 8(9): e1179. Published online 2020 Feb 14. doi: 10.1002/mgg3.1179

PMCID:: PMC7507471

Abstract Article PDF–1.2M

Select item 724244117.

Decreased Na⁺/K⁺ ATPase Expression and Depolarized Cell Membrane in Neurons Differentiated from Chorea-Acanthocytosis Patients

Zohreh Hosseinzadeh, Stefan Hauser, Yogesh Singh, Lisann Pelzl, Stefanie Schuster, Yamini Sharma, Philip Höflinger, Nefeli Zacharopoulou, Christos Stournaras, Daniel L. Rathbun, Eberhart Zrenner, Ludger Schöls, Florian Lang

Sci Rep. 2020; 10: 8391. Published online 2020 May 21. doi: 10.1038/s41598-020-64845-0

PMCID:: PMC7242441

Abstract Article PDF–2.1M

Select item 721765618.

Phenotypic variability in chorea-acanthocytosis associated with novel VPS13A mutations

Valter Niemelä, Ammar Salih, Daniela Solea, Björn Lindvall, Jan Weinberg, Gabriel Miltenberger, Tobias Granberg, Aikaterini Tzovla, Love Nordin, Torsten Danfors, Irina Savitcheva, Niklas Dahl, Martin Paucar

Neurol Genet. 2020 Jun; 6(3): e426. Published online 2020 Apr 27. doi: 10.1212/NXG.0000000000000426

PMCID:: PMC7217656

Abstract Article PDF–169K

Select item 708477719.

Combined Dendritic and Axonal Deterioration Are Responsible for Motoneuronopathy in Patient-Derived Neuronal Cell Models of Chorea-Acanthocytosis

Hannes Glaß, Patrick Neumann, Arun Pal, Peter Reinhardt, Alexander Storch, Jared Sterneckert, Andreas Hermann

Int J Mol Sci. 2020 Mar; 21(5): 1797. Published online 2020 Mar 5. doi: 10.3390/ijms21051797

PMCID:: PMC7084777

Abstract Article PDF–14M

Select item 699422920.

Pathoarchitectonics of the cerebral cortex in chorea-acanthocytosis and Huntington’s disease

J. Liu, H. Heinsen, L. T. Grinberg, E. Alho, E. Amaro, Jr, C. A. Pasqualucci, U. Rüb, K. Seidel, W. den Dunnen, T. Arzberger, C. Schmitz, M. C. Kiessling, B. Bader, A. Danek

Neuropathol Appl Neurobiol. Author manuscript; available in PMC 2020 Apr 1.

Published in final edited form as: Neuropathol Appl Neurobiol. 2019 Apr; 45(3): 230–243. Published online 2018 Jun 10. doi: 10.1111/nan.12495

PMCID:: PMC6994229

Abstract Article PDF–1.6M

<< First< Prev

Page of 7

Next >Last >>

Supplemental Content

Filter your results:

Manage Filters

Find related data

Recent activity

Clear Turn Off Turn On

PMC Articles for MedGen (Select 195801) (128)
PMC
Bacillus subtilis strain MB9_B6 chromosome, complete genome
Bacillus subtilis strain MB9_B6 chromosome, complete genome
gi|1776011467|ref|NZ_CP045818.1|

Nucleotide
Bacillus subtilis strain Ino3 Scaffold3, whole genome shotgun sequence
Bacillus subtilis strain Ino3 Scaffold3, whole genome shotgun sequence
gi|2417784526|ref|NZ_JANUWJ01000000 gnl|WGS:NZ_JANUWJ01|Scaffold3

Nucleotide
Bacillus subtilis strain Ino3 Scaffold14, whole genome shotgun sequence
Bacillus subtilis strain Ino3 Scaffold14, whole genome shotgun sequence
gi|2417784555|ref|NZ_JANUWJ01000001 gnl|WGS:NZ_JANUWJ01|Scaffold14

Nucleotide
Bacillus subtilis strain Ino3 Scaffold9, whole genome shotgun sequence
Bacillus subtilis strain Ino3 Scaffold9, whole genome shotgun sequence
gi|2417784544|ref|NZ_JANUWJ01000000 gnl|WGS:NZ_JANUWJ01|Scaffold9

Nucleotide

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

PMC

Result Filters

Article attributes

Text availability

Publication date

Custom date range

Research Funder

Additional filters

Display Settings:

Send to:

Links from MedGen

Items: 1 to 20 of 128

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity