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1.

Radiogenomics of C9orf72 Expansion Carriers Reveals Global Transposable Element Derepression and Enables Prediction of Thalamic Atrophy and Clinical Impairment.

Bonham, Luke W; Geier, Ethan G; Sirkis, Daniel W; Leong, Josiah K; Ramos, Eliana Marisa; Wang, Qing; Karydas, Anna; Lee, Suzee E; Sturm, Virginia E; Sawyer, Russell P; Friedberg, Adit; Ichida, Justin K; Gitler, Aaron D; Sugrue, Leo; Cordingley, Michael; Bee, Walter; Weber, Eckard; Kramer, Joel H; Rankin, Katherine P; Rosen, Howard J; Boxer, Adam L; Seeley, William W; Ravits, John; Miller, Bruce L; Yokoyama, Jennifer S.

J Neurosci; 43(2): 333-345, 2023 01 11.

Artículo en Inglés | MEDLINE | ID: mdl-36446586

2.

CK1Î´/Îµ kinases regulate TDP-43 phosphorylation and are therapeutic targets for ALS-related TDP-43 hyperphosphorylation.

Ko, Vivian I; Ong, Kailee; Cleveland, Don W; Yu, Haiyang; Ravits, John M.

Neurobiol Dis; 196: 106516, 2024 Jun 15.

Artículo en Inglés | MEDLINE | ID: mdl-38677657

3.

Misfolded alpha-synuclein in amyotrophic lateral sclerosis: Implications for diagnosis and treatment.

Smith, Richard; Hovren, Hanna; Bowser, Robert; Bakkar, Nadine; Garruto, Ralph; Ludolph, Albert; Ravits, John; Gaertner, Lia; Murphy, Davan; Lebovitz, Russ.

Eur J Neurol; 31(4): e16206, 2024 Apr.

Artículo en Inglés | MEDLINE | ID: mdl-38270442

4.

Phase 1-2 Trial of Antisense Oligonucleotide Tofersen for SOD1 ALS.

Miller, Timothy; Cudkowicz, Merit; Shaw, Pamela J; Andersen, Peter M; Atassi, Nazem; Bucelli, Robert C; Genge, Angela; Glass, Jonathan; Ladha, Shafeeq; Ludolph, Albert L; Maragakis, Nicholas J; McDermott, Christopher J; Pestronk, Alan; Ravits, John; Salachas, François; Trudell, Randall; Van Damme, Philip; Zinman, Lorne; Bennett, C Frank; Lane, Roger; Sandrock, Alfred; Runz, Heiko; Graham, Danielle; Houshyar, Hani; McCampbell, Alexander; Nestorov, Ivan; Chang, Ih; McNeill, Manjit; Fanning, Laura; Fradette, Stephanie; Ferguson, Toby A.

N Engl J Med; 383(2): 109-119, 2020 07 09.

Artículo en Inglés | MEDLINE | ID: mdl-32640130

5.

Aberrant NOVA1 function disrupts alternative splicing in early stages of amyotrophic lateral sclerosis.

Krach, Florian; Wheeler, Emily C; Regensburger, Martin; Boerstler, Tom; Wend, Holger; Vu, Anthony Q; Wang, Ruth; Reischl, Stephanie; Boldt, Karsten; Batra, Ranjan; Aigner, Stefan; Ravits, John; Winkler, Juergen; Yeo, Gene W; Winner, Beate.

Acta Neuropathol; 144(3): 413-435, 2022 09.

Artículo en Inglés | MEDLINE | ID: mdl-35778567

6.

Nuclear depletion of RNA-binding protein ELAVL3 (HuC) in sporadic and familial amyotrophic lateral sclerosis.

Diaz-Garcia, Sandra; Ko, Vivian I; Vazquez-Sanchez, Sonia; Chia, Ruth; Arogundade, Olubankole Aladesuyi; Rodriguez, Maria J; Traynor, Bryan J; Cleveland, Don; Ravits, John.

Acta Neuropathol; 142(6): 985-1001, 2021 12.

Artículo en Inglés | MEDLINE | ID: mdl-34618203

7.

Elongator subunit 3 (ELP3) modifies ALS through tRNA modification.

Bento-Abreu, Andre; Jager, Gunilla; Swinnen, Bart; Rué, Laura; Hendrickx, Stijn; Jones, Ashley; Staats, Kim A; Taes, Ines; Eykens, Caroline; Nonneman, Annelies; Nuyts, Rik; Timmers, Mieke; Silva, Lara; Chariot, Alain; Nguyen, Laurent; Ravits, John; Lemmens, Robin; Cabooter, Deirdre; Van Den Bosch, Ludo; Van Damme, Philip; Al-Chalabi, Ammar; Bystrom, Anders; Robberecht, Wim.

Hum Mol Genet; 27(7): 1276-1289, 2018 04 01.

Artículo en Inglés | MEDLINE | ID: mdl-29415125

8.

Primary lateral sclerosis: consensus diagnostic criteria.

Turner, Martin R; Barohn, Richard J; Corcia, Philippe; Fink, John K; Harms, Matthew B; Kiernan, Matthew C; Ravits, John; Silani, Vincenzo; Simmons, Zachary; Statland, Jeffrey; van den Berg, Leonard H; Mitsumoto, Hiroshi.

J Neurol Neurosurg Psychiatry; 91(4): 373-377, 2020 04.

Artículo en Inglés | MEDLINE | ID: mdl-32029539

9.

Predicting disease specific spinal motor neurons and glia in sporadic ALS.

Dachet, Fabien; Liu, Jiangou; Ravits, John; Song, Fei.

Neurobiol Dis; 130: 104523, 2019 10.

Artículo en Inglés | MEDLINE | ID: mdl-31276795

10.

Dysregulated miRNA biogenesis downstream of cellular stress and ALS-causing mutations: a new mechanism for ALS.

Emde, Anna; Eitan, Chen; Liou, Lee-Loung; Libby, Ryan T; Rivkin, Natali; Magen, Iddo; Reichenstein, Irit; Oppenheim, Hagar; Eilam, Raya; Silvestroni, Aurelio; Alajajian, Betty; Ben-Dov, Iddo Z; Aebischer, Julianne; Savidor, Alon; Levin, Yishai; Sons, Robert; Hammond, Scott M; Ravits, John M; Möller, Thomas; Hornstein, Eran.

EMBO J; 34(21): 2633-51, 2015 Nov 03.

Artículo en Inglés | MEDLINE | ID: mdl-26330466

11.

Alternatively spliced ELAVL3 cryptic exon 4a causes ELAVL3 downregulation in ALS TDP-43 proteinopathy.

Costantino, Isabel; Meng, Alex; Ravits, John.

Acta Neuropathol; 147(1): 93, 2024 May 30.

Artículo en Inglés | MEDLINE | ID: mdl-38814471

12.

Reply: The lower motor neuron homunculus: function matters.

Ravits, John; Stack, Julia.

Brain; 146(6): e36-e38, 2023 06 01.

Artículo en Inglés | MEDLINE | ID: mdl-36729779

13.

Targeted axonal import (TAxI) peptide delivers functional proteins into spinal cord motor neurons after peripheral administration.

Sellers, Drew L; Bergen, Jamie M; Johnson, Russell N; Back, Heidi; Ravits, John M; Horner, Philip J; Pun, Suzie H.

Proc Natl Acad Sci U S A; 113(9): 2514-9, 2016 Mar 01.

Artículo en Inglés | MEDLINE | ID: mdl-26888285

14.

Astrocyte-derived Jagged-1 mitigates deleterious Notch signaling in amyotrophic lateral sclerosis.

Nonneman, Annelies; Criem, Nathan; Lewandowski, Sebastian A; Nuyts, Rik; Thal, Dietmar R; Pfrieger, Frank W; Ravits, John; Van Damme, Philip; Zwijsen, An; Van Den Bosch, Ludo; Robberecht, Wim.

Neurobiol Dis; 119: 26-40, 2018 11.

Artículo en Inglés | MEDLINE | ID: mdl-30010003

15.

Sense-encoded poly-GR dipeptide repeat proteins correlate to neurodegeneration and uniquely co-localize with TDP-43 in dendrites of repeat-expanded C9orf72 amyotrophic lateral sclerosis.

Saberi, Shahram; Stauffer, Jennifer E; Jiang, Jie; Garcia, Sandra Diaz; Taylor, Amy E; Schulte, Derek; Ohkubo, Takuya; Schloffman, Cheyenne L; Maldonado, Marcus; Baughn, Michael; Rodriguez, Maria J; Pizzo, Don; Cleveland, Don; Ravits, John.

Acta Neuropathol; 135(3): 459-474, 2018 03.

Artículo en Inglés | MEDLINE | ID: mdl-29196813

16.

Transcriptome-pathology correlation identifies interplay between TDP-43 and the expression of its kinase CK1E in sporadic ALS.

Krach, Florian; Batra, Ranjan; Wheeler, Emily C; Vu, Anthony Q; Wang, Ruth; Hutt, Kasey; Rabin, Stuart J; Baughn, Michael W; Libby, Ryan T; Diaz-Garcia, Sandra; Stauffer, Jennifer; Pirie, Elaine; Saberi, Shahram; Rodriguez, Maria; Madrigal, Assael A; Kohl, Zacharias; Winner, Beate; Yeo, Gene W; Ravits, John.

Acta Neuropathol; 136(3): 405-423, 2018 09.

Artículo en Inglés | MEDLINE | ID: mdl-29881994

17.

Mexiletine for muscle cramps in amyotrophic lateral sclerosis: A randomized, double-blind crossover trial.

Oskarsson, Björn; Moore, Dan; Mozaffar, Tahseen; Ravits, John; Wiedau-Pazos, Martina; Parziale, Nicholas; Joyce, Nanette C; Mandeville, Ross; Goyal, Namita; Cudkowicz, Merit E; Weiss, Michael; Miller, Robert G; McDonald, Craig M.

Muscle Nerve; 2018 Mar 06.

Artículo en Inglés | MEDLINE | ID: mdl-29510461

18.

The lower motor neuron homunculus.

Ravits, John; Stack, Julia.

Brain; 145(11): 3727-3729, 2022 11 21.

Artículo en Inglés | MEDLINE | ID: mdl-36029046

19.

TDP-43 protein variants as biomarkers in amyotrophic lateral sclerosis.

Williams, Stephanie M; Khan, Galam; Harris, Brent T; Ravits, John; Sierks, Michael R.

BMC Neurosci; 18(1): 20, 2017 01 25.

Artículo en Inglés | MEDLINE | ID: mdl-28122516

20.

Pathological TDP-43 changes in Betz cells differ from those in bulbar and spinal α-motoneurons in sporadic amyotrophic lateral sclerosis.

Braak, Heiko; Ludolph, Albert C; Neumann, Manuela; Ravits, John; Del Tredici, Kelly.

Acta Neuropathol; 133(1): 79-90, 2017 01.

Artículo en Inglés | MEDLINE | ID: mdl-27757524

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