PMC Articles for MedGen (Select 811607) - PMC

Select item 68522331.

Altered immunoreactivity of ErbB4, a causative gene product for ALS19, in the spinal cord of patients with sporadic ALS

Yuji Takahashi, Akiko Uchino, Ayako Shioya, Terunori Sano, Chihiro Matsumoto, Yurika Numata‐Uematsu, Seiichi Nagano, Toshiyuki Araki, Shigeo Murayama, Yuko Saito

Neuropathology. 2019 Aug; 39(4): 268–278. Published online 2019 May 24. doi: 10.1111/neup.12558

PMCID:: PMC6852233

Abstract Article PDF–3.1M

Select item 90359352.

Analysis of ERBB4 Variants in Amyotrophic Lateral Sclerosis Within a Chinese Cohort

Fan Wang, Xiangyi Liu, Ji He, Nan Zhang, Lu Chen, Lu Tang, Dongsheng Fan

Front Neurol. 2022; 13: 865264. Published online 2022 Apr 11. doi: 10.3389/fneur.2022.865264

PMCID:: PMC9035935

Abstract Article PDF–1.3M

Select item 87497093.

Safety and Effectiveness of Long-term Intravenous Administration of Edaravone for Treatment of Patients With Amyotrophic Lateral Sclerosis

Simon Witzel, André Maier, Robert Steinbach, Julian Grosskreutz, Jan C. Koch, Anastasia Sarikidi, Susanne Petri, René Günther, Joachim Wolf, Andreas Hermann, Johannes Prudlo, Isabell Cordts, Paul Lingor, Wolfgang N. Löscher, Zacharias Kohl, Tim Hagenacker, Christian Ruckes, Birgit Koch, Susanne Spittel, Kornelia Günther, Sebastian Michels, Johannes Dorst, Thomas Meyer, Albert C. Ludolph

JAMA Neurol. 2022 Feb; 79(2): 1–11. Published online 2022 Jan 10. doi: 10.1001/jamaneurol.2021.4893

Correction in:: JAMA Neurol. 2022 Jun 13 : e221581.

PMCID:: PMC8749709

Abstract Article

Select item 108292114.

Behavioral variant frontotemporal dementia associated with GRN and ErbB4 gene mutations: a case report and literature review

Youde Cai, Zhongyong Peng, Qiansong He, Ping Sun

BMC Med Genomics. 2024; 17: 43. Published online 2024 Jan 30. doi: 10.1186/s12920-024-01819-5

PMCID:: PMC10829211

Abstract Article PDF–999K

Select item 107814965.

Parvalbumin interneurons dysfunction is potentially associated with FαMNs decrease and NRG1-ErbB4 signaling inhibition in spinal cord in amyotrophic lateral sclerosis

Qin Kang, Shishi Jiang, Jun Min, Fan Hu, Renshi Xu

Aging (Albany NY) 2023 Dec 31; 15(24): 15324–15339. Published online 2023 Dec 28. doi: 10.18632/aging.205351

PMCID:: PMC10781496

Abstract Article PDF–2.1M

Select item 92666116.

Quadruple genetic variants in a sporadic ALS patient

Rüstem Yilmaz, Kanchi Weishaupt, Ivan Valkadinov, Antje Knehr, David Brenner, Jochen H. Weishaupt

Mol Genet Genomic Med. 2022 Jul; 10(7): e1953. Published online 2022 Apr 14. doi: 10.1002/mgg3.1953

PMCID:: PMC9266611

Abstract Article PDF–716K

Select item 81156357.

Genetic analysis of ALS cases in the isolated island population of Malta

Rebecca Borg, Maia Farrugia Wismayer, Karl Bonavia, Andrew Farrugia Wismayer, Malcolm Vella, Joke J. F. A. van Vugt, Brendan J. Kenna, Kevin P. Kenna, Neville Vassallo, Jan H. Veldink, Ruben J. Cauchi

Eur J Hum Genet. 2021 Apr; 29(4): 604–614. Published online 2021 Jan 7. doi: 10.1038/s41431-020-00767-9

PMCID:: PMC8115635

Abstract Article PDF–1.0M

Select item 76096308.

Therapeutic Role of Neuregulin 1 Type III in SOD1-Linked Amyotrophic Lateral Sclerosis

Guillem Mòdol-Caballero, Belén García-Lareu, Sergi Verdés, Lorena Ariza, Irene Sánchez-Brualla, Frédéric Brocard, Assumpció Bosch, Xavier Navarro, Mireia Herrando-Grabulosa

Neurotherapeutics. 2020 Jul; 17(3): 1048–1060. Published online 2020 Jan 21. doi: 10.1007/s13311-019-00811-7

PMCID:: PMC7609630

Abstract Article PDF–2.1M

Select item 50902209.

TDP‐43 loss of function inhibits endosomal trafficking and alters trophic signaling in neurons

Benjamin M Schwenk, Hannelore Hartmann, Alperen Serdaroglu, Martin H Schludi, Daniel Hornburg, Felix Meissner, Denise Orozco, Alessio Colombo, Sabina Tahirovic, Meike Michaelsen, Franziska Schreiber, Simone Haupt, Michael Peitz, Oliver Brüstle, Clemens Küpper, Thomas Klopstock, Markus Otto, Albert C Ludolph, Thomas Arzberger, Peer‐Hendrik Kuhn, Dieter Edbauer

EMBO J. 2016 Nov 2; 35(21): 2350–2370. Published online 2016 Sep 12. doi: 10.15252/embj.201694221

PMCID:: PMC5090220

Abstract Article PDF–2.4M

Select item 382413210.

ERBB4 Mutations that Disrupt the Neuregulin-ErbB4 Pathway Cause Amyotrophic Lateral Sclerosis Type 19

Yuji Takahashi, Yoko Fukuda, Jun Yoshimura, Atsushi Toyoda, Kari Kurppa, Hiroyoko Moritoyo, Veronique V. Belzil, Patrick A. Dion, Koichiro Higasa, Koichiro Doi, Hiroyuki Ishiura, Jun Mitsui, Hidetoshi Date, Budrul Ahsan, Takashi Matsukawa, Yaeko Ichikawa, Takashi Moritoyo, Mayumi Ikoma, Tsukasa Hashimoto, Fumiharu Kimura, Shigeo Murayama, Osamu Onodera, Masatoyo Nishizawa, Mari Yoshida, Naoki Atsuta, Gen Sobue, JaCALS, Jennifer A. Fifita, Kelly L. Williams, Ian P. Blair, Garth A. Nicholson, Paloma Gonzalez-Perez, Robert H. Brown, Jr., Masahiro Nomoto, Klaus Elenius, Guy A. Rouleau, Asao Fujiyama, Shinichi Morishita, Jun Goto, Shoji Tsuji

Am J Hum Genet. 2013 Nov 7; 93(5): 900–905. doi: 10.1016/j.ajhg.2013.09.008

PMCID:: PMC3824132

Abstract Article PDF–358K

Select item 475810511.

Neuregulin 1 confers neuroprotection in SOD1-linked amyotrophic lateral sclerosis mice via restoration of C-boutons of spinal motor neurons

Jurate Lasiene, Okiru Komine, Noriko Fujimori-Tonou, Berit Powers, Fumito Endo, Seiji Watanabe, Jin Shijie, John Ravits, Philip Horner, Hidemi Misawa, Koji Yamanaka

Acta Neuropathol Commun. 2016; 4: 15. Published online 2016 Feb 18. doi: 10.1186/s40478-016-0286-7

PMCID:: PMC4758105

Abstract Article PDF–3.5M

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