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Items: 20

1.
Diagnostic and clinical experience of patients with pantothenate kinase-associated neurodegeneration
Randall D. Marshall, Abigail Collins, Maria L. Escolar, H. A. Jinnah, Thomas Klopstock, Michael C. Kruer, Aleksandar Videnovic, Amy Robichaux-Viehoever, Colleen Burns, Laura L. Swett, Dennis A. Revicki, Randall H. Bender, William R. Lenderking
Orphanet J Rare Dis. 2019; 14: 174. Published online 2019 Jul 12. doi: 10.1186/s13023-019-1142-1
PMCID:
PMC6625120
AbstractArticlePDF–871K
2.
New NBIA subtype: Genetic, clinical, pathologic, and radiographic features of MPAN
Penelope Hogarth, Allison Gregory, Michael C. Kruer, Lynn Sanford, Wendy Wagoner, Marvin R. Natowicz, Robert T. Egel, S.H. Subramony, Jennifer G. Goldman, Elizabeth Berry-Kravis, Nicola C. Foulds, Simon R. Hammans, Isabelle Desguerre, Diana Rodriguez, Callum Wilson, Andrea Diedrich, Sarah Green, Huong Tran, Lindsay Reese, Randall L. Woltjer, Susan J. Hayflick
Neurology. 2013 Jan 15; 80(3): 268–275. doi: 10.1212/WNL.0b013e31827e07be
PMCID:
PMC3589182
AbstractArticlePDF–1.3M
3.
Widespread Lewy body and tau accumulation in childhood and adult onset dystonia-parkinsonism cases with PLA2G6 mutations
Coro Paisán-Ruiz, Abi Li, Susanne A. Schneider, Janice L. Holton, Robert Johnson, Desmond Kidd, Jeremy Chataway, Kailash P. Bhatia, Andrew J. Lees, John Hardy, Tamas Revesz, Henry Houlden
Neurobiol Aging. 2012 Apr; 33(4): 814–823. doi: 10.1016/j.neurobiolaging.2010.05.009
PMCID:
PMC3657696
AbstractArticle
4.
New Findings in a Global Approach to Dissect the Whole Phenotype of PLA2G6 Gene Mutations
Mustafa A. Salih, Emeline Mundwiller, Arif O. Khan, Abdulmajeed AlDrees, Salah A. Elmalik, Hamdy H. Hassan, Mohammed Al-Owain, Hisham M. S. Alkhalidi, Istvan Katona, Mohammad M. Kabiraj, Roman Chrast, Amal Y. Kentab, Hamad Alzaidan, Richard J. Rodenburg, Thomas M. Bosley, Joachim Weis, Michel Koenig, Giovanni Stevanin, Hamid Azzedine
PLoS One. 2013; 8(10): e76831. Published online 2013 Oct 9. doi: 10.1371/journal.pone.0076831
Correction in:
PLoS One. 2013; 8(11): 10.1371/annotation/cb01a74a-3330-4412-8040-2a94842420ed.
PMCID:
PMC3792983
AbstractArticlePDF–3.3M
5.
TECPR2 Associated Neuroaxonal Dystrophy in Spanish Water Dogs
Kerstin Hahn, Cecilia Rohdin, Vidhya Jagannathan, Peter Wohlsein, Wolfgang Baumgärtner, Frauke Seehusen, Ingo Spitzbarth, Rodrigo Grandon, Cord Drögemüller, Karin Hultin Jäderlund
PLoS One. 2015; 10(11): e0141824. Published online 2015 Nov 10. doi: 10.1371/journal.pone.0141824
PMCID:
PMC4640708
AbstractArticlePDF–8.5M
6.
The novel compound PBT434 prevents iron mediated neurodegeneration and alpha-synuclein toxicity in multiple models of Parkinson’s disease
David I. Finkelstein, Jessica L. Billings, Paul A. Adlard, Scott Ayton, Amelia Sedjahtera, Colin L. Masters, Simon Wilkins, David M. Shackleford, Susan A. Charman, Wojciech Bal, Izabela A Zawisza, Ewa Kurowska, Andrew L. Gundlach, Sheri Ma, Ashley I. Bush, Dominic J. Hare, Philip A. Doble, Simon Crawford, Elisabeth CL. Gautier, Jack Parsons, Penny Huggins, Kevin J. Barnham, Robert A. Cherny
Acta Neuropathol Commun. 2017; 5: 53. Published online 2017 Jun 28. doi: 10.1186/s40478-017-0456-2
Correction in:
Acta Neuropathol Commun. 2021; 9: 161.
PMCID:
PMC5490188
AbstractArticlePDF–3.0M
7.
Novel mutations in PANK2 and PLA2G6 genes in patients with neurodegenerative disorders: two case reports
Hassan Dastsooz, Hamid Nemati, Mohammad Ali Farazi Fard, Majid Fardaei, Mohammad Ali Faghihi
BMC Med Genet. 2017; 18: 87. Published online 2017 Aug 18. doi: 10.1186/s12881-017-0439-y
PMCID:
PMC5562981
AbstractArticlePDF–2.1M
8.
Marked Age-Related Changes in Brain Iron Homeostasis in Amyloid Protein Precursor Knockout Mice
Abdel A. Belaidi, Adam P. Gunn, Bruce X. Wong, Scott Ayton, Ambili T. Appukuttan, Blaine R. Roberts, James A. Duce, Ashley I. Bush
Neurotherapeutics. 2018 Oct; 15(4): 1055–1062. Published online 2018 Aug 15. doi: 10.1007/s13311-018-0656-x
PMCID:
PMC6277293
AbstractArticlePDF–1.6M
9.
The Clinical, Radiological and Genetic Spectrum of PLA2G6-Associated Neurodegeneration: An Experience From a Tertiary Center
Vikram V. Holla, M. M. Samim, Riyanka Kumari, Debjyoti Dhar, Prashant Phulpagar, Neeharika Sriram, Shweta Prasad, Jitender Saini, Nitish Kamble, Ravi Yadav, Babylakshmi Muthusamy, Dr. Pramod Kumar Pal
Tremor Other Hyperkinet Mov (N Y) 2024; 14: 41. Published online 2024 Aug 21. doi: 10.5334/tohm.897
PMCID:
PMC11342831
AbstractArticlePDF–1.7M
10.
The role of iron in gray matter degeneration in Huntington's disease: A magnetic resonance imaging study
Cristina Sánchez‐Castañeda, Ferdinando Squitieri, Margherita Di Paola, Michael Dayan, Martina Petrollini, Umberto Sabatini
Hum Brain Mapp. 2015 Jan; 36(1): 50–66. Published online 2014 Aug 21. doi: 10.1002/hbm.22612
PMCID:
PMC6868940
AbstractArticlePDF–531K
11.
GJA1 Variants Cause Spastic Paraplegia Associated with Cerebral Hypomyelination
L. Saint-Val, T. Courtin, P. Charles, C. Verny, M. Catala, R. Schiffmann, O. Boespflug-Tanguy, F. Mochel
AJNR Am J Neuroradiol. 2019 May; 40(5): 788–791. doi: 10.3174/ajnr.A6036
PMCID:
PMC7053899
AbstractArticlePDF–759K
12.
Impaired proteasome activity and neurodegeneration with brain iron accumulation in FBXO7 defect
Marta Correa‐Vela, Vincenzo Lupo, Marta Montpeyó, Paula Sancho, Anna Marcé‐Grau, Jorge Hernández‐Vara, Alejandra Darling, Alison Jenkins, Sandra Fernández‐Rodríguez, Cristina Tello, Laura Ramírez‐Jiménez, Belén Pérez, Ángel Sánchez‐Montáñez, Alfons Macaya, María J. Sobrido, Marta Martinez‐Vicente, Belén Pérez‐Dueñas, Carmen Espinós
Ann Clin Transl Neurol. 2020 Aug; 7(8): 1436–1442. Published online 2020 Aug 6. doi: 10.1002/acn3.51095
PMCID:
PMC7448169
AbstractArticlePDF–396K
13.
De novo variants in WDR45 underlie beta‐propeller protein‐associated neurodegeneration in five independent families
Xiaojun Tang, Xiaoping Lan, Xiaozhen Song, Wuhen Xu, Yuanfeng Zhang, Hong Zhang, Shengnan Wu
Mol Genet Genomic Med. 2020 Nov; 8(11): e1499. Published online 2020 Oct 10. doi: 10.1002/mgg3.1499
PMCID:
PMC7667327
AbstractArticlePDF–1.5M
14.
The iron chelator, PBT434, modulates transcellular iron trafficking in brain microvascular endothelial cells
Danielle K. Bailey, Whitney Clark, Daniel J. Kosman
PLoS One. 2021; 16(7): e0254794. Published online 2021 Jul 26. doi: 10.1371/journal.pone.0254794
PMCID:
PMC8312958
AbstractArticlePDF–2.2M
15.
Physiological significance of WDR45, a responsible gene for β-propeller protein associated neurodegeneration (BPAN), in brain development
Mariko Noda, Hidenori Ito, Koh-ichi Nagata
Sci Rep. 2021; 11: 22568. Published online 2021 Nov 19. doi: 10.1038/s41598-021-02123-3
PMCID:
PMC8604945
AbstractArticlePDF–6.8M
16.
Iron status influences mitochondrial disease progression in Complex I-deficient mice
CJ Kelly, Reid K Couch, Vivian T Ha, Camille M Bodart, Judy Wu, Sydney Huff, Nicole T Herrel, Hyunsung D Kim, Azaad O Zimmermann, Jessica Shattuck, Yu-Chen Pan, Matt Kaeberlein, Anthony S Grillo
eLife. 2023; 12: e75825. Published online 2023 Feb 17. doi: 10.7554/eLife.75825
PMCID:
PMC10030112
AbstractArticlePDF–1.4M
17.
The expression of ceruloplasmin in astrocytes is essential for postnatal myelination and myelin maintenance in the adult brain
VT Cheli, M Sekhar, DA Santiago González, CG Angeliu, GE Denaroso, Z Smith, C Wang, PM Paez
Glia. Author manuscript; available in PMC 2024 Oct 1.
Published in final edited form as: Glia. 2023 Oct; 71(10): 2323–2342. Published online 2023 Jun 3. doi: 10.1002/glia.24424
PMCID:
PMC10599212
AbstractArticlePDF–9.4M
18.
Cerebral microbleeds in Fragile X-associated Tremor/Ataxia Syndrome
María Jimena Salcedo-Arellano, Jun Yi Wang, Yingratana A McLennan, Mai Doan, Ana Maria Cabal-Herrera, Sara Jimenez, Marisol W Wolf-Ochoa, Desiree Sanchez, Pablo Juarez, Flora Tassone, Blythe Durbin-Johnson, Randi J Hagerman, Verónica Martínez-Cerdeño
Mov Disord. Author manuscript; available in PMC 2024 Mar 12.
Published in final edited form as: Mov Disord. 2021 Aug; 36(8): 1935–1943. Published online 2021 Mar 24. doi: 10.1002/mds.28559
PMCID:
PMC10929604
AbstractArticlePDF–1.2M
19.
Isradipine attenuates MPTP-induced dopamine neuron degeneration by inhibiting up-regulation of L-type calcium channels and iron accumulation in the substantia nigra of mice
Qi-Min Wang, Yu-Yu Xu, Shang Liu, Ze-Gang Ma
Oncotarget. 2017 Jul 18; 8(29): 47284–47295. Published online 2017 May 4. doi: 10.18632/oncotarget.17618
PMCID:
PMC5564564
AbstractArticlePDF–4.5M
20.
A novel neuroferritinopathy mouse model (FTL 498InsTC) shows progressive brain iron dysregulation, morphological signs of early neurodegeneration and motor coordination deficits
Federica Maccarinelli, Antonella Pagani, Anna Cozzi, Franca Codazzi, Giuseppina Di Giacomo, Sara Capoccia, Stefania Rapino, Dario Finazzi, Letterio Salvatore Politi, Francesca Cirulli, Marco Giorgio, Ottavio Cremona, Fabio Grohovaz, Sonia Levi
Neurobiol Dis. 2015 Sep; 81: 119–133. doi: 10.1016/j.nbd.2014.10.023
PMCID:
PMC4642750
AbstractArticle

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