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Ataxin-2 as potential disease modifier in C90RF72 expansion carriers

Marka van Blitterswijk Mullen Bianca; Michael Heckman; Lea T Grinberg; Matthew Backer; Mariely de Jesus Hernandez; Patricia Brown; Melissa Murray; Ging Yuek Hsiung; Heather Stewart; Anna Karydas; Elizabeth Finger; Andrew Kertesz; Eillen Bigio; Sandra Weintraub; Marsel Mesulam; Kimmo Hatanpaa; Charles White III; Manuela Neumann; Michael Strong; Thomas Beach; Zbigniew Wszolek; Carol Lippa; Richard Caselli; Leonard Petrucelli; Keith Josephs; Joseph Parisi; David Knopman; Ronald Peterson; Ian Mackenzie Seeley, william; Bruce Miller; Kevin Boylan; Neil Graff-Radford; Bradley Boeve; Dennis Dickson; Rosa Rademarkers

Neurobiology of aging New York v. 35, n. 3, p. 2421e13-2421e17, 2014

New York 2014

Available at FM - Fac. Medicina    (BCSEP 016 2014 )(GetIt)

2
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TMEM106B protects C9ORF72 expansion carriers against frontotemporal dementia

Marka van Blitterswijk Bianca Mullen; Alexandra M Nicholson; Kevin F Bieniek; Michael G Heckman; Matthew C Baker; Mariely DeJesus‑Hernandez; NiCole A Finch; Patricia H Brown; Melissa E Murray; Ging‑Yuek R Hsiung; Heather Stewart; Anna M Karydas; Elizabeth Finger; Andrew Kertesz; Eileen H Bigio; Sandra Weintraub; Marsel Mesulam; Kimmo J Hatanpaa; Charles L White III; Michael J Strong; Thomas G Beach; Zbigniew K Wszolek; Carol Lippa; Richard Caselli; Leonard Petrucelli; Keith A Josephs; Joseph E Parisi; David S Knopman; Ronald C Petersen; Ian R Mackenzie; William W Seeley; Lea T Grinberg; Bruce L Miller; Kevin B Boylan; Neill R Graff‑Radford; Bradley F Boeve; Dennis W Dickson; Rosa Rademakers

Acta Neuropathologica Berlin v. 127, n. 3, p. 397-406, 2014

Berlin 2014

Available at FM - Fac. Medicina    (BCSEP 090 2014 )(GetIt)

3
Genetic Convergence Brings Clarity to the Enigmatic Red Line in ALS
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Genetic Convergence Brings Clarity to the Enigmatic Red Line in ALS

Cook, Casey ; Petrucelli, Leonard

Neuron (Cambridge, Mass.), 2019-03, Vol.101 (6), p.1057-1069 [Peer Reviewed Journal]

United States: Elsevier Inc

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4
Converging pathways in neurodegeneration, from genetics to mechanisms
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Converging pathways in neurodegeneration, from genetics to mechanisms

Gan, Li ; Cookson, Mark R ; Petrucelli, Leonard ; La Spada, Albert R

Nature neuroscience, 2018-10, Vol.21 (10), p.1300-1309 [Peer Reviewed Journal]

United States: Nature Publishing Group

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5
Poly(GR) in C9ORF72-Related ALS/FTD Compromises Mitochondrial Function and Increases Oxidative Stress and DNA Damage in iPSC-Derived Motor Neurons
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Poly(GR) in C9ORF72-Related ALS/FTD Compromises Mitochondrial Function and Increases Oxidative Stress and DNA Damage in iPSC-Derived Motor Neurons

Lopez-Gonzalez, Rodrigo ; Lu, Yubing ; Gendron, Tania F. ; Karydas, Anna ; Tran, Helene ; Yang, Dejun ; Petrucelli, Leonard ; Miller, Bruce L. ; Almeida, Sandra ; Gao, Fen-Biao

Neuron (Cambridge, Mass.), 2016-10, Vol.92 (2), p.383-391 [Peer Reviewed Journal]

United States: Elsevier Inc

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6
Posttranslational Modifications Mediate the Structural Diversity of Tauopathy Strains
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Posttranslational Modifications Mediate the Structural Diversity of Tauopathy Strains

Arakhamia, Tamta ; Lee, Christina E. ; Carlomagno, Yari ; Kumar, Mukesh ; Duong, Duc M. ; Wesseling, Hendrik ; Kundinger, Sean R. ; Wang, Kevin ; Williams, Dewight ; DeTure, Michael ; Dickson, Dennis W. ; Cook, Casey N. ; Seyfried, Nicholas T. ; Petrucelli, Leonard ; Steen, Judith A. ; Fitzpatrick, Anthony W.P.

Cell, 2020-02, Vol.180 (4), p.633-644.e12 [Peer Reviewed Journal]

United States: Elsevier Inc

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7
Cross-sectional and longitudinal measures of chitinase proteins in amyotrophic lateral sclerosis and expression of CHI3L1 in activated astrocytes
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Cross-sectional and longitudinal measures of chitinase proteins in amyotrophic lateral sclerosis and expression of CHI3L1 in activated astrocytes

Vu, Lucas ; An, Jiyan ; Kovalik, Tina ; Gendron, Tania ; Petrucelli, Leonard ; Bowser, Robert

Journal of neurology, neurosurgery and psychiatry, 2020-04, Vol.91 (4), p.350-358 [Peer Reviewed Journal]

England: BMJ Publishing Group LTD

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8
Cellular and pathological heterogeneity of primary tauopathies
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Cellular and pathological heterogeneity of primary tauopathies

Chung, Dah-Eun Chloe ; Roemer, Shanu ; Petrucelli, Leonard ; Dickson, Dennis W

Molecular neurodegeneration, 2021-08, Vol.16 (1), p.57-57, Article 57 [Peer Reviewed Journal]

England: BioMed Central Ltd

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9
The ALS disease-associated mutant TDP-43 impairs mitochondrial dynamics and function in motor neurons
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The ALS disease-associated mutant TDP-43 impairs mitochondrial dynamics and function in motor neurons

Wang, Wenzhang ; Li, Li ; Lin, Wen-Lang ; Dickson, Dennis W ; Petrucelli, Leonard ; Zhang, Teng ; Wang, Xinglong

Human molecular genetics, 2013-12, Vol.22 (23), p.4706-4719 [Peer Reviewed Journal]

England: Oxford University Press

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10
GGGGCC repeat expansion in C9orf72 compromises nucleocytoplasmic transport
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GGGGCC repeat expansion in C9orf72 compromises nucleocytoplasmic transport

Freibaum, Brian D ; Lu, Yubing ; Lopez-Gonzalez, Rodrigo ; Kim, Nam Chul ; Almeida, Sandra ; Lee, Kyung-Ha ; Badders, Nisha ; Valentine, Marc ; Miller, Bruce L ; Wong, Philip C ; Petrucelli, Leonard ; Kim, Hong Joo ; Gao, Fen-Biao ; Taylor, J Paul

Nature (London), 2015-09, Vol.525 (7567), p.129-133 [Peer Reviewed Journal]

England: Nature Publishing Group

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