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Select item 111631981.

Knockdown of calpain1 in lumbar motoneurons reduces spasticity after spinal cord injury in adult rats

Marjorie Kerzonkuf, Jérémy Verneuil, Cécile Brocard, Nejada Dingu, Virginie Trouplin, Jose Jorge Ramirez Franco, Marc Bartoli, Frédéric Brocard, Hélène Bras

Mol Ther. 2024 Apr 3; 32(4): 1096–1109. Published online 2024 Jan 29. doi: 10.1016/j.ymthe.2024.01.029

PMCID:: PMC11163198

Abstract Article PDF–5.0M

Select item 111161562.

1例母源性ATP1A3基因变异所致CAPOS综合征临床特征报告

高云, 李凤娇, 罗容, 谌国会, 李丹阳, 王大勇, 王秋菊

Lin Chuang Er Bi Yan Hou Tou Jing Wai Ke Za Zhi. 2024 Jan 3; 38(1): 73–76. Chinese. doi: 10.13201/j.issn.2096-7993.2024.01.012

PMCID:: PMC11116156

Abstract Article PDF–1.9M

Select item 108507153.

Can CANVAS due to RFC1 biallelic expansions present with pure ataxia?

Marios Hadjivassiliou, Riccardo Currò, Nick Beauchamp, Natalia Dominik, Richard A Grunewald, Priya Shanmugarajah, Panayiotis Zis, Nigel Hoggard, Andrea Cortese

J Neurol Neurosurg Psychiatry. 2024 Feb; 95(2): 171–174. Published online 2023 Jul 6. doi: 10.1136/jnnp-2023-331381

PMCID:: PMC10850715

Abstract Article PDF–224K

Select item 94824464.

Effects of CYP-Induced Cystitis on PACAP/VIP and Receptor Expression in Micturition Pathways and Bladder Function in Mice with Overexpression of NGF in Urothelium

Beatrice M. Girard, John D. Tompkins, Rodney L. Parsons, Victor May, Margaret A. Vizzard

J Mol Neurosci. Author manuscript; available in PMC 2022 Sep 17.

Published in final edited form as: J Mol Neurosci. 2012 Nov; 48(3): 730–743. Published online 2012 Jun 15. doi: 10.1007/s12031-012-9834-1

PMCID:: PMC9482446

Abstract Article PDF–2.2M

Select item 89031855.

A 7- year old female with Arthrogryposis Multiplex Congenita, Duane Retraction Syndrome, and Marcus Gunn phenomenon due to a ZC4H2 gene mutation: A Clinical Presentation of the Wieacker-Wolff Syndrome

Deena Godfrey, Alcy R. Torres, Gena Heidary, Hovra Zahoor, Arthur Lee, Gerard Berry, Elizabeth Engle

Ophthalmic Genet. Author manuscript; available in PMC 2022 Oct 1.

Published in final edited form as: Ophthalmic Genet. 2021 Oct; 42(5): 612–614. Published online 2021 May 5. doi: 10.1080/13816810.2021.1923040

PMCID:: PMC8903185

Abstract Article PDF–155K

Select item 84101246.

Voltage-gated potassium channel dysfunction in dorsal root ganglia contributes to the exaggerated exercise pressor reflex in rats with chronic heart failure

Juan Hong, Shubin Fu, Lie Gao, Yanhui Cai, Eric Lazartigues, Han-Jun Wang

Am J Physiol Heart Circ Physiol. 2021 Aug 1; 321(2): H461–H474. Published online 2021 Jul 16. doi: 10.1152/ajpheart.00256.2021

PMCID:: PMC8410124

Abstract Article

Select item 78349807.

The 1316T>C missenses mutation in MTHFR contributes to MTHFR deficiency by targeting MTHFR to proteasome degradation

Xi Liu, Yu Li, Menghan Wang, Xiaojun Wang, Limin Zhang, Tao Peng, Wenping Liang, Zhe Wang, Hong Lu

Aging (Albany NY) 2021 Jan 15; 13(1): 1176–1185. Published online 2020 Dec 3. doi: 10.18632/aging.202256

PMCID:: PMC7834980

Abstract Article PDF–1.3M

Select item 77453098.

Abnormal neurodevelopment outcome in case of neonatal hyperekplexia secondary to missense mutation in GLRB gene

Naveen Parkash Gupta, Vinita Verma, Saurabh Chopra, Vivek Choudhury

BMJ Case Rep. 2020; 13(12): e236152. Published online 2020 Dec 15. doi: 10.1136/bcr-2020-236152

PMCID:: PMC7745309

Abstract Article PDF–1.3M

Select item 77347369.

Cardiac phenotype in ATP1A3-related syndromes: A multicenter cohort study

Simona Balestrini, Mohamad A. Mikati, Reyes Álvarez-García-Rovés, Michael Carboni, Arsen S. Hunanyan, Bassil Kherallah, Melissa McLean, Lyndsey Prange, Elisa De Grandis, Alessandra Gagliardi, Livia Pisciotta, Michela Stagnaro, Edvige Veneselli, Jaume Campistol, Carmen Fons, Leticia Pias-Peleteiro, Allison Brashear, Charlotte Miller, Raquel Samões, Vesna Brankovic, Quasar S. Padiath, Ana Potic, Jacek Pilch, Aikaterini Vezyroglou, Ann M.E. Bye, Andrew M. Davis, Monique M. Ryan, Christopher Semsarian, Georgina Hollingsworth, Ingrid E. Scheffer, Tiziana Granata, Nardo Nardocci, Francesca Ragona, Alexis Arzimanoglou, Eleni Panagiotakaki, Inês Carrilho, Claudio Zucca, Jan Novy, Karolina Dzieżyc, Marek Parowicz, Maria Mazurkiewicz-Bełdzińska, Sarah Weckhuysen, Roser Pons, Sergiu Groppa, Daniel S. Sinden, Geoffrey S. Pitt, Andrew Tinker, Michael Ashworth, Zuzanna Michalak, Maria Thom, J. Helen Cross, Rosaria Vavassori, Juan P. Kaski, Sanjay M. Sisodiya

Neurology. 2020 Nov 24; 95(21): e2866–e2879. doi: 10.1212/WNL.0000000000010794

PMCID:: PMC7734736

Abstract Article PDF–1.2M

Select item 754609810.

Complex Movement Disorders in Ataxia with Oculomotor Apraxia Type 1: Beyond the Cerebellar Syndrome

José Luiz Pedroso, Thiago Cardoso Vale, Sophia Caldas Gonzaga da Costa, Mariana Santos, Isabel Alonso, Orlando Graziani Povoas Barsottini

Tremor Other Hyperkinet Mov (N Y) 2020; 10: 39. Published online 2020 Oct 7. doi: 10.5334/tohm.557

PMCID:: PMC7546098

Abstract Article PDF–1.5M

Select item 736915511.

Myopathic changes associated with psychomotor delay and seizures caused by a novel homozygous mutation in TBCK

Simona Saredi, Edmund S. Cauley, Alessandra Ruggieri, Tyler M. Spivey, Anna Ardissone, Marina Mora, Isabella Moroni, M. Chiara Manzini

Muscle Nerve. Author manuscript; available in PMC 2021 Aug 1.

Published in final edited form as: Muscle Nerve. 2020 Aug; 62(2): 266–271. Published online 2020 May 27. doi: 10.1002/mus.26907

PMCID:: PMC7369155

Abstract Article PDF–925K

Select item 726878712.

De novo mutations in TOMM70, a receptor of the mitochondrial import translocase, cause neurological impairment

Debdeep Dutta, Lauren C Briere, Oguz Kanca, Paul C Marcogliese, Melissa A Walker, Frances A High, Adeline Vanderver, Joel Krier, Nikkola Carmichael, Christine Callahan, Ryan J Taft, Cas Simons, Guy Helman, Undiagnosed Diseases Network, Michael F Wangler, Shinya Yamamoto, David A Sweetser, Hugo J Bellen

Hum Mol Genet. 2020 Jun 3; 29(9): 1568–1579. Published online 2020 Apr 30. doi: 10.1093/hmg/ddaa081

PMCID:: PMC7268787

Abstract Article PDF–1.2M

Select item 688738713.

Vemurafenib as first-line therapy in BRAF-V600E-mutant Erdheim-Chester disease with CNS involvement

Gorka Fernández-Eulate, Amaia Muñoz-Lopetegi, Irune Ruiz, Miguel Urtasun

BMJ Case Rep. 2019; 12(11): e228280. Published online 2019 Nov 19. doi: 10.1136/bcr-2018-228280

PMCID:: PMC6887387

Abstract Article PDF–332K

Select item 681589414.

Prominent Spasticity and Hyperreflexia of the Legs in a Nepalese Patient with Friedreich Ataxia

Hiroya Naruse, Yuji Takahashi, Hiroyuki Ishiura, Takashi Matsukawa, Jun Mitsui, Yaeko Ichikawa, Masashi Hamada, Jun Shimizu, Jun Goto, Tatsushi Toda, Shoji Tsuji

Intern Med. 2019 Oct 1; 58(19): 2865–2869. Published online 2019 Jun 7. doi: 10.2169/internalmedicine.2953-19

PMCID:: PMC6815894

Abstract Article PDF–1.1M

Select item 679625115.

The α1K276E Startle Disease Mutation Reveals Multiple Intermediate States in the Gating of Glycine Receptors

Remigijus Lape, Andrew J. R. Plested, Mirko Moroni, David Colquhoun, Lucia G. Sivilotti

J Neurosci. 2012 Jan 25; 32(4): 1336–1352. doi: 10.1523/JNEUROSCI.4346-11.2012

PMCID:: PMC6796251

Abstract Article PDF–3.4M

Select item 678214916.

Novel GLRA1 Missense Mutation (P250T) in Dominant Hyperekplexia Defines an Intracellular Determinant of Glycine Receptor Channel Gating

Brigitta Saul, Thomas Kuner, Diana Sobetzko, Wolfram Brune, Folker Hanefeld, Hans-Michael Meinck, Cord-Michael Becker

J Neurosci. 1999 Feb 1; 19(3): 869–877. doi: 10.1523/JNEUROSCI.19-03-00869.1999

PMCID:: PMC6782149

Abstract Article PDF–246K

Select item 663244417.

Pathophysiological Mechanisms of Dominant and Recessive GLRA1 Mutations in Hyperekplexia

Seo-Kyung Chung, Jean-François Vanbellinghen, Jonathan G. L. Mullins, Angela Robinson, Janina Hantke, Carrie L. Hammond, Daniel F. Gilbert, Michael Freilinger, Monique Ryan, Michael C. Kruer, Amira Masri, Candan Gurses, Colin Ferrie, Kirsten Harvey, Rita Shiang, John Christodoulou, Frederick Andermann, Eva Andermann, Rhys H. Thomas, Robert J. Harvey, Joseph W. Lynch, Mark I. Rees

J Neurosci. 2010 Jul 14; 30(28): 9612–9620. doi: 10.1523/JNEUROSCI.1763-10.2010

PMCID:: PMC6632444

Abstract Article PDF–1.4M

Select item 651864818.

An endothelial growth factor receptor compound mutation of T790M substitution with exon 19 deletion in a previously untreated patient: a case report

Juan C. Falla-Martinez, Daniela Espinosa, Juan C. Baena, Lisa X. Rodriguez, Luz F. Sua, Angela R. Zambrano

J Med Case Rep. 2019; 13: 144. Published online 2019 May 15. doi: 10.1186/s13256-019-2075-y

PMCID:: PMC6518648

Abstract Article PDF–2.7M

Select item 632287519.

Functional consequences of the CAPOS mutation E818K of Na⁺,K⁺-ATPase

Christian P. Roenn, Melody Li, Vivien R. Schack, Ian C. Forster, Rikke Holm, Mads S. Toustrup-Jensen, Jens P. Andersen, Steven Petrou, Bente Vilsen

J Biol Chem. 2019 Jan 4; 294(1): 269–280. Published online 2018 Nov 8. doi: 10.1074/jbc.RA118.004591

PMCID:: PMC6322875

Abstract Article PDF–2.6M

Select item 611390520.

Arginine Methyltransferase PRMT8 Provides Cellular Stress Tolerance in Aging Motoneurons

Zoltan Simandi, Krisztian Pajer, Katalin Karolyi, Tatiana Sieler, Lu-Lin Jiang, Zsuzsanna Kolostyak, Zsanett Sari, Zoltan Fekecs, Attila Pap, Andreas Patsalos, Gerardo Alvarado Contreras, Balint Reho, Zoltan Papp, Xiufang Guo, Attila Horvath, Greta Kiss, Zsolt Keresztessy, György Vámosi, James Hickman, Huaxi Xu, Dorothee Dormann, Tibor Hortobagyi, Miklos Antal, Antal Nógrádi, Laszlo Nagy

J Neurosci. 2018 Aug 29; 38(35): 7683–7700. doi: 10.1523/JNEUROSCI.3389-17.2018

PMCID:: PMC6113905

Abstract Article PDF–8.0M

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