PMC Articles for MedGen (Select 155945) - PMC

Links from MedGen

Items: 1 to 20 of 1000

<< First< Prev

Page of 50

Next >Last >>

Select item 106636211.

Mutation at the entrance of the quinone cavity severely disrupts quinone binding in respiratory complex I

Jason Tae Yi, Panyue Wang, Alexei A. Stuchebrukhov

Sci Rep. 2023; 13: 20413. Published online 2023 Nov 21. doi: 10.1038/s41598-023-47314-2

PMCID:: PMC10663621

Abstract Article PDF–2.4M

Select item 106858632.

Expanding the Molecular Spectrum of HK1-Related Charcot-Marie-Tooth Disease, Type 4G; the First Report in Iran

Masoumeh Goleyjani Moghadam, Zohreh Elahi, Mohamad Soveyzi, Sanaz Arzhangi, Shahriar Nafissi, Hossein Najmabadi, Kimia Kahrizi, Zohreh Fattahi

Arch Iran Med. 2023 May; 26(5): 279–284. Published online 2023 May 1. doi: 10.34172/aim.2023.43

PMCID:: PMC10685863

Abstract Article PDF–719K

Select item 106844603.

Intravenous Administration of an AAV9 Vector Ubiquitously Expressing C1orf194 Gene Improved CMT-Like Neuropathy in C1orf194^-/- Mice

Zongrui Shen, Meiyi Li, Fei He, Cheng Huang, Yingchun Zheng, Zhikui Wang, Shunfei Ma, Li Chen, Zhengshan Liu, Hui Zheng, Fu Xiong

Neurotherapeutics. 2023 Oct; 20(6): 1835–1846. Published online 2023 Oct 16. doi: 10.1007/s13311-023-01429-6

PMCID:: PMC10684460

Abstract Article PDF–2.5M

Select item 106835354.

A Novel Heterozygous NF1 Variant in a Neurofibromatosis-Noonan Syndrome Patient with Growth Hormone Deficiency: A Case Report

Si Qin, Yindi Zhang, Fadong Yu, Yinxing Ni, Jian Zhong

J Clin Res Pediatr Endocrinol. 2023 Dec; 15(4): 438–443. Published online 2023 Nov 22. doi: 10.4274/jcrpe.galenos.2022.2021-12-24

PMCID:: PMC10683535

Abstract Article PDF–1.2M

Select item 106828835.

Detection of transthyretin amyloid cardiomyopathy by automated data extraction from electronic health records

Ana Moya, Clara L. Oeste, Monika Beles, Sofie Verstreken, Riet Dierckx, Ward Heggermont, Jozef Bartunek, Eline Bogaerts, Imke Masuy, Dries Hens, Dario Bertolone, Marc Vanderheyden

ESC Heart Fail. 2023 Dec; 10(6): 3483–3492. Published online 2023 Sep 19. doi: 10.1002/ehf2.14517

PMCID:: PMC10682883

Abstract Article PDF–430K

Select item 106826996.

P-Rex1 is a novel substrate of the E3 ubiquitin ligase Malin associated with Lafora disease

L. Kumarasinghe, M.A. Garcia-Gimeno, J. Ramirez, U. Mayor, JL. Zugaza, P Sanz

Neurobiol Dis. Author manuscript; available in PMC 2023 Nov 28.

Published in final edited form as: Neurobiol Dis. 2023 Feb; 177: 105998. Published online 2023 Jan 10. doi: 10.1016/j.nbd.2023.105998

PMCID:: PMC10682699

Abstract Article PDF–1.7M

Select item 106824767.

TNF and IL6/Jak2 signaling pathways are the main contributors of the glia-derived neuroinflammation present in Lafora disease, a fatal form of progressive myoclonus epilepsy

Teresa Rubio, Rosa Viana, Mireia Moreno-Estellés, Ángela Campos-Rodríguez, Pascual Sanz

Neurobiol Dis. Author manuscript; available in PMC 2023 Nov 28.

Published in final edited form as: Neurobiol Dis. 2023 Jan; 176: 105964. Published online 2022 Dec 14. doi: 10.1016/j.nbd.2022.105964

PMCID:: PMC10682476

Abstract Article PDF–2.3M

Select item 106810668.

Unique clinical and neurophysiologic profile of a cohort of children with CMTX3

Manoj Kanhangad, Kayla Cornett, Megan H. Brewer, Garth A. Nicholson, Monique M. Ryan, Robert L. Smith, Gopinath M. Subramanian, Helen K. Young, Stephan Züchner, Marina L. Kennerson, Joshua Burns, Manoj P. Menezes

Neurology. 2018 May 8; 90(19): e1706–e1710. doi: 10.1212/WNL.0000000000005479

PMCID:: PMC10681066

Abstract Article PDF–672K

Select item 106763249.

Functional implications of paralog genes in polyglutamine spinocerebellar ataxias

Daniela Felício, Tanguy Rubat du Mérac, António Amorim, Sandra Martins

Hum Genet. 2023; 142(12): 1651–1676. Published online 2023 Oct 16. doi: 10.1007/s00439-023-02607-4

PMCID:: PMC10676324

Abstract Article PDF–4.3M

Select item 1067630910.

Combined RNA interference and gene replacement therapy targeting MFN2 as proof of principle for the treatment of Charcot–Marie–Tooth type 2A

Federica Rizzo, Silvia Bono, Marc David Ruepp, Sabrina Salani, Linda Ottoboni, Elena Abati, Valentina Melzi, Chiara Cordiglieri, Serena Pagliarani, Roberta De Gioia, Alessia Anastasia, Michela Taiana, Manuela Garbellini, Simona Lodato, Paolo Kunderfranco, Daniele Cazzato, Daniele Cartelli, Caterina Lonati, Nereo Bresolin, Giacomo Comi, Monica Nizzardo, Stefania Corti

Cell Mol Life Sci. 2023 Dec; 80(12): 373. Published online 2023 Nov 25. doi: 10.1007/s00018-023-05018-w

PMCID:: PMC10676309

Abstract Article PDF–3.9M

Select item 1067630411.

Machado-Joseph disease in a Sudanese family links East Africa to Portuguese families and allows reestimation of ancestral age of the Machado lineage

Sandra Martins, Ashraf Yahia, Inês P. D. Costa, Hassab E. Siddig, Rayan Abubaker, Mahmoud Koko, Marc Corral-Juan, Antoni Matilla-Dueñas, Alexis Brice, Alexandra Durr, Eric Leguern, Laura P. W. Ranum, António Amorim, Liena E. O. Elsayed, Giovanni Stevanin, Jorge Sequeiros

Hum Genet. 2023; 142(12): 1747–1754. Published online 2023 Nov 14. doi: 10.1007/s00439-023-02611-8

PMCID:: PMC10676304

Abstract Article PDF–1.2M

Select item 1067169112.

Uncovering the Genetic and Molecular Features of Huntington’s Disease in Northern Colombia

Mostapha Ahmad, Margarita R. Ríos-Anillo, Johan E. Acosta-López, Martha L. Cervantes-Henríquez, Martha Martínez-Banfi, Wilmar Pineda-Alhucema, Pedro Puentes-Rozo, Cristian Sánchez-Barros, Andrés Pinzón, Hardip R. Patel, Jorge I. Vélez, José Luis Villarreal-Camacho, David A. Pineda, Mauricio Arcos-Burgos, Manuel Sánchez-Rojas

Int J Mol Sci. 2023 Nov; 24(22): 16154. Published online 2023 Nov 10. doi: 10.3390/ijms242216154

PMCID:: PMC10671691

Abstract Article PDF–1.5M

Select item 1067130013.

FMRP Enhances the Translation of 4EBP2 mRNA during Neuronal Differentiation

Jinbae Yu, Youngsik Woo, Heesun Kim, Sihyeon An, Sang Ki Park, Sung Key Jang

Int J Mol Sci. 2023 Nov; 24(22): 16319. Published online 2023 Nov 14. doi: 10.3390/ijms242216319

PMCID:: PMC10671300

Abstract Article PDF–4.2M

Select item 1067105314.

Genetic Heterogeneity Underlying Phenotypes with Early-Onset Cerebellar Atrophy

Dolores Martínez-Rubio, Isabel Hinarejos, Herminia Argente-Escrig, Clara Marco-Marín, María Ana Lozano, Nerea Gorría-Redondo, Vincenzo Lupo, Itxaso Martí-Carrera, Concepción Miranda, María Vázquez-López, Asunción García-Pérez, Ana Victoria Marco-Hernández, Miguel Tomás-Vila, Sergio Aguilera-Albesa, Carmen Espinós

Int J Mol Sci. 2023 Nov; 24(22): 16400. Published online 2023 Nov 16. doi: 10.3390/ijms242216400

PMCID:: PMC10671053

Abstract Article PDF–3.3M

Select item 1066726915.

Molecular EPISTOP, a comprehensive multi-omic analysis of blood from Tuberous Sclerosis Complex infants age birth to two years

Franz Huschner, Jagoda Głowacka-Walas, James D. Mills, Katarzyna Klonowska, Kathryn Lasseter, John M. Asara, Romina Moavero, Christoph Hertzberg, Bernhard Weschke, Kate Riney, Martha Feucht, Theresa Scholl, Pavel Krsek, Rima Nabbout, Anna C. Jansen, Bořivoj Petrák, Jackelien van Scheppingen, Josef Zamecnik, Anand Iyer, Jasper J. Anink, Angelika Mühlebner, Caroline Mijnsbergen, Lieven Lagae, Paolo Curatolo, Julita Borkowska, Krzysztof Sadowski, Dorota Domańska-Pakieła, Magdalena Blazejczyk, Floor E. Jansen, Stef Janson, Malgorzata Urbanska, Aleksandra Tempes, Bart Janssen, Kamil Sijko, Konrad Wojdan, Sergiusz Jozwiak, Katarzyna Kotulska, Karola Lehmann, Eleonora Aronica, Jacek Jaworski, David J. Kwiatkowski

Nat Commun. 2023; 14: 7664. Published online 2023 Nov 23. doi: 10.1038/s41467-023-42855-6

PMCID:: PMC10667269

Abstract Article PDF–2.0M

Select item 1066539016.

Mutant huntingtin confers cell-autonomous phenotypes on Huntington’s disease iPSC-derived microglia

Nina Stöberl, Jasmine Donaldson, Caroline S. Binda, Branduff McAllister, Hazel Hall-Roberts, Lesley Jones, Thomas H. Massey, Nicholas D. Allen

Sci Rep. 2023; 13: 20477. Published online 2023 Nov 22. doi: 10.1038/s41598-023-46852-z

PMCID:: PMC10665390

Abstract Article PDF–2.0M

Select item 1068714317.

X-linked adrenoleukodystrophy and primary adrenal insufficiency

Marco Cappa, Tommaso Todisco, Carla Bizzarri

Front Endocrinol (Lausanne) 2023; 14: 1309053. Published online 2023 Nov 16. doi: 10.3389/fendo.2023.1309053

PMCID:: PMC10687143

Abstract Article PDF–427K

Select item 1066029718.

Severe Dry Eye Disease in Charcot-Marie-Tooth Disease: A Comprehensive Case Report

Khalid A. Aldihan, Musa Johaiman AlRashedi, Halah Bin Helayel, Mohammed AlMutlak, Sami T. Hameed

Am J Case Rep. 2023; 24: e941094-1–e941094-4. Published online 2023 Nov 15. doi: 10.12659/AJCR.941094

PMCID:: PMC10660297

Abstract Article PDF–503K

Select item 1065900219.

A Novel c.3636-4 A>G Mutation in the CCDC88C Plays a Causative Role in Familial Spinocerebellar Ataxia

Senmao Chai, Deyang Liu, Yajing Liu, Ming Sang

Hum Hered. 2023 Jan-Dec; 88(1): 91–97. Published online 2023 Oct 27. doi: 10.1159/000534692

PMCID:: PMC10659002

Abstract Article

Select item 1065855920.

Generalized myokymia, or neuromyotonia, or both in dogs with or without spinocerebellar ataxia

An Vanhaesebrouck, Mario Van Poucke, Kimberley Stee, Nicolas Granger, Edward Ives, Iris Van Soens, Ine Cornelis, Kenny Bossens, Luc Peelman, Luc Van Ham, Sofie F. M. Bhatti

J Vet Intern Med. 2023 Nov-Dec; 37(6): 2310–2314. Published online 2023 Oct 31. doi: 10.1111/jvim.16892

PMCID:: PMC10658559

Abstract Article PDF–424K

PMC

Result Filters

Article attributes

Text availability

Publication date

Custom date range

Research Funder

Additional filters

Display Settings:

Send to:

Links from MedGen

Items: 1 to 20 of 1000

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity