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Select item 116809261.

Genetic epidemiology of amyotrophic lateral sclerosis in Cyprus: a population-based study

Ellie Mitsi, Christina Votsi, Pantelitsa Koutsou, Anthi Georghiou, Christiana C. Christodoulou, Kleopas Kleopa, Eleni Zamba-Papanicolaou, Kyproula Christodoulou, Paschalis Nicolaou

Sci Rep. 2024; 14: 30781. Published online 2024 Dec 28. doi: 10.1038/s41598-024-80851-y

PMCID:: PMC11680926

Article PDF–1.5M

Select item 116383112.

Genetic and functional analyses of SPTLC1 in juvenile amyotrophic lateral sclerosis

So Okubo, Hiroya Naruse, Hiroyuki Ishiura, Atsushi Sudo, Kayoko Esaki, Jun Mitsui, Takashi Matsukawa, Wataru Satake, Peter Greimel, Nanoka Shingai, Yasushi Oya, Takeo Yoshikawa, Shoji Tsuji, Tatsushi Toda

J Neurol. 2025; 272(1): 36. Published online 2024 Dec 12. doi: 10.1007/s00415-024-12776-5

PMCID:: PMC11638311

Article PDF–2.4M

Select item 116021443.

ALS-associated FUS mutation reshapes the RNA and protein composition of stress granules

Davide Mariani, Adriano Setti, Francesco Castagnetti, Erika Vitiello, Lorenzo Stufera Mecarelli, Gaia Di Timoteo, Andrea Giuliani, Angelo D’Angelo, Tiziana Santini, Eleonora Perego, Sabrina Zappone, Nara Liessi, Andrea Armirotti, Giuseppe Vicidomini, Irene Bozzoni

Nucleic Acids Res. 2024 Nov 27; 52(21): 13269–13289. Published online 2024 Nov 4. doi: 10.1093/nar/gkae942

PMCID:: PMC11602144

Article PDF–2.1M

Select item 115798744.

Reversal of cognitive deficits in FUS^R521G amyotrophic lateral sclerosis mice by arimoclomol and a class I histone deacetylase inhibitor independent of heat shock protein induction

Mari Carmen Pelaez, Frédéric Fiore, Nancy Larochelle, Afrooz Dabbaghizadeh, Mario Fernández Comaduran, Danielle Arbour, Sandra Minotti, Laetitia Marcadet, Martine Semaan, Richard Robitaille, Josephine N. Nalbantoglu, Chantelle F. Sephton, Heather D. Durham

Neurotherapeutics. 2024 Sep; 21(5): e00388. Published online 2024 Jul 6. doi: 10.1016/j.neurot.2024.e00388

PMCID:: PMC11579874

Article PDF–4.4M

Select item 115464715.

CK and LRRK2 Involvement in Neurodegenerative Diseases

Valentina Bova, Deborah Mannino, Anna Paola Capra, Marika Lanza, Nicoletta Palermo, Alessia Filippone, Emanuela Esposito

Int J Mol Sci. 2024 Nov; 25(21): 11661. Published online 2024 Oct 30. doi: 10.3390/ijms252111661

PMCID:: PMC11546471

Article PDF–1.6M

Select item 115463976.

Epigenetic Explorations of Neurological Disorders, the Identification Methods, and Therapeutic Avenues

Zeba Firdaus, Xiaogang Li

Int J Mol Sci. 2024 Nov; 25(21): 11658. Published online 2024 Oct 30. doi: 10.3390/ijms252111658

PMCID:: PMC11546397

Article PDF–4.0M

Select item 115409247.

NEK1 haploinsufficiency worsens DNA damage, but not defective ciliogenesis, in C9ORF72 patient-derived iPSC-motoneurons

Serena Santangelo, Sabrina Invernizzi, Marta Nice Sorce, Valeria Casiraghi, Silvia Peverelli, Alberto Brusati, Claudia Colombrita, Nicola Ticozzi, Vincenzo Silani, Patrizia Bossolasco, Antonia Ratti

Hum Mol Genet. 2024 Nov 1; 33(21): 1900–1907. Published online 2024 Sep 2. doi: 10.1093/hmg/ddae121

PMCID:: PMC11540924

Article PDF–1.2M

Select item 115274458.

CRISPR/Cas13d targeting suppresses repeat-associated non-AUG translation of C9orf72 hexanucleotide repeat RNA

Honghe Liu, Xiao-Feng Zhao, Yu-Ning Lu, Lindsey R. Hayes, Jiou Wang

J Clin Invest. 2024 Nov 1; 134(21): e179016. Published online 2024 Sep 17. doi: 10.1172/JCI179016

Correction in:: J Clin Invest. 2024 Dec 16; 134(24): e189439.

PMCID:: PMC11527445

Article PDF–4.2M

Select item 115107259.

First Report of Trypanosoma vivax (Duttonella), Babesia bovis and Babesia bigemina DNA in Cattle from the Galapagos Islands, Ecuador, and Its Relationship with Anaplasma marginale

María Augusta Chávez-Larrea, Cristina Cholota-Iza, Michelle Yugcha-Diaz, Jorge Ron-Román, Freddy Proaño-Pérez, Alicia Maya-Delgado, Jimmy Jumbo-Moreira, Armando Reyna-Bello, Claude Saegerman

Pathogens. 2024 Oct; 13(10): 910. Published online 2024 Oct 18. doi: 10.3390/pathogens13100910

PMCID:: PMC11510725

Article PDF–1.2M

Select item 1144697510.

Clinical characterization of common pathogenic variants of SOD1-ALS in Germany

Maximilian Wiesenfarth, Yalda Forouhideh-Wiesenfarth, Zeynep Elmas, Özlem Parlak, Ulrike Weiland, Christine Herrmann, Joachim Schuster, Axel Freischmidt, Kathrin Müller, Reiner Siebert, Kornelia Günther, Elke Fröhlich, Antje Knehr, Tatiana Simak, Franziska Bachhuber, Martin Regensburger, Susanne Petri, Thomas Klopstock, Peter Reilich, Florian Schöberl, Peggy Schumann, Peter Körtvélyessy, Thomas Meyer, Wolfgang P. Ruf, Simon Witzel, Hayrettin Tumani, David Brenner, Johannes Dorst, Albert C. Ludolph

J Neurol. 2024; 271(10): 6667–6679. Published online 2024 Aug 14. doi: 10.1007/s00415-024-12564-1

PMCID:: PMC11446975

Article PDF–1.7M

Select item 1144228611.

Herbal medicines for SOD1^G93A mice of amyotrophic lateral sclerosis: preclinical evidence and possible immunologic mechanism

Jiang-Li Yang, Jing-Ying Wu, Jing-Jing Liu, Guo-Qing Zheng

Front Immunol. 2024; 15: 1433929. Published online 2024 Sep 17. doi: 10.3389/fimmu.2024.1433929

PMCID:: PMC11442286

Article PDF–5.1M

Select item 1138628212.

Immune responses to central nervous system directed adeno-associated virus gene therapy: Does direct CNS delivery make a difference?

Ashley L. Harkins, Prajakta P. Ambegaokar, Allison M. Keeler

Neurotherapeutics. 2024 Jul; 21(4): e00435. Published online 2024 Aug 23. doi: 10.1016/j.neurot.2024.e00435

PMCID:: PMC11386282

Article PDF–762K

Select item 1122459813.

Clinicopathological correlates in the frontotemporal lobar degeneration–motor neuron disease spectrum

Álvaro Carbayo, Sergi Borrego-Écija, Janina Turon-Sans, Elena Cortés-Vicente, Laura Molina-Porcel, Jordi Gascón-Bayarri, Miguel Ángel Rubio, Mónica Povedano, Josep Gámez, Javier Sotoca, Raúl Juntas-Morales, Miriam Almendrote, Marta Marquié, Raquel Sánchez-Valle, Ignacio Illán-Gala, Oriol Dols-Icardo, Sara Rubio-Guerra, Sara Bernal, Marta Caballero-Ávila, Ana Vesperinas, Ellen Gelpi, Ricard Rojas-García

Brain. 2024 Jul; 147(7): 2357–2367. Published online 2024 Jan 16. doi: 10.1093/brain/awae011

PMCID:: PMC11224598

Article PDF–641K

Select item 1120976114.

The role of Matrin-3 in physiology and its dysregulation in disease

Macy L. Sprunger, Meredith E. Jackrel

Biochem Soc Trans. Author manuscript; available in PMC 2024 Jun 27.

Published in final edited form as: Biochem Soc Trans. 2024 Jun 26; 52(3): 961–972. doi: 10.1042/BST20220585

PMCID:: PMC11209761

Article PDF–820K

Select item 1118163315.

Molecular detection and characterization of Anaplasma ovis, Theileria ovis, and Theileria lestoquardi in sheep and goats in Luxor, Egypt

Hassan Y. A. H. Mahmoud, Tetsuya Tanaka, Alsagher O. Ali, Walaa F. A. Emeish

BMC Vet Res. 2024; 20: 260. Published online 2024 Jun 17. doi: 10.1186/s12917-024-04109-5

PMCID:: PMC11181633

Article PDF–2.3M

Select item 1117180716.

From Environment to Gene Expression: Epigenetic Methylations and One-Carbon Metabolism in Amyotrophic Lateral Sclerosis

Marina Hernan-Godoy, Caroline Rouaux

Cells. 2024 Jun; 13(11): 967. Published online 2024 Jun 3. doi: 10.3390/cells13110967

PMCID:: PMC11171807

Article PDF–925K

Select item 1117169617.

MATR3’s Role beyond the Nuclear Matrix: From Gene Regulation to Its Implications in Amyotrophic Lateral Sclerosis and Other Diseases

Jhune Rizsan Santos, Jeehye Park

Cells. 2024 Jun; 13(11): 980. Published online 2024 Jun 5. doi: 10.3390/cells13110980

PMCID:: PMC11171696

Article PDF–5.1M

Select item 1116160018.

Stabilization of V1 interneuron-motor neuron connectivity ameliorates motor phenotype in a mouse model of ALS

Santiago Mora, Anna Stuckert, Rasmus von Huth Friis, Kimberly Pietersz, Gith Noes-Holt, Roser Montañana-Rosell, Haoyu Wang, Andreas Toft Sørensen, Raghavendra Selvan, Joost Verhaagen, Ilary Allodi

Nat Commun. 2024; 15: 4867. Published online 2024 Jun 7. doi: 10.1038/s41467-024-48925-7

PMCID:: PMC11161600

Article PDF–7.5M

Select item 1111371219.

Extracellular wildtype and mutant SOD1 induces ER–Golgi pathology characteristic of amyotrophic lateral sclerosis in neuronal cells

Vinod Sundaramoorthy, Adam K. Walker, Justin Yerbury, Kai Ying Soo, Manal A. Farg, Vy Hoang, Rafaa Zeineddine, Damian Spencer, Julie D. Atkin

Cell Mol Life Sci. 2013 Nov; 70(21): 4181–4195. Published online 2013 Jun 14. doi: 10.1007/s00018-013-1385-2

PMCID:: PMC11113712

Article PDF–1.7M

Select item 1110853020.

Modeling simple repeat expansion diseases with iPSC technology

Edyta Jaworska, Emilia Kozlowska, Pawel M. Switonski, Wlodzimierz J. Krzyzosiak

Cell Mol Life Sci. 2016 Nov; 73(21): 4085–4100. Published online 2016 Jun 3. doi: 10.1007/s00018-016-2284-0

PMCID:: PMC11108530

Article PDF–1.1M

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