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Items: 1 to 20 of 102

1.
Hereditary Neuromuscular Disorders in Reproductive Medicine
Agnese Luglio, Elena Maggi, Francesco Nicola Riviello, Alessandro Conforti, Ugo Sorrentino, Daniela Zuccarello
Genes (Basel) 2024 Nov; 15(11): 1409. Published online 2024 Oct 30. doi: 10.3390/genes15111409
PMCID:
PMC11593801
ArticlePDF–462K
2.
Regulation of formin INF2 and its alteration in INF2-linked inherited disorders
Leticia Labat-de-Hoz, M. Ángeles Jiménez, Isabel Correas, Miguel A. Alonso
Cell Mol Life Sci. 2024 Dec; 81(1): 463. Published online 2024 Nov 25. doi: 10.1007/s00018-024-05499-3
PMCID:
PMC11589041
ArticlePDF–2.0M
3.
Monitoring Myelin Lipid Composition and the Structure of Myelinated Fibers Reveals a Maturation Delay in CMT1A
Giovanna Capodivento, Mattia Camera, Nara Liessi, Anna Trada, Doriana Debellis, Angelo Schenone, Andrea Armirotti, Davide Visigalli, Lucilla Nobbio
Int J Mol Sci. 2024 Oct; 25(20): 11244. Published online 2024 Oct 19. doi: 10.3390/ijms252011244
PMCID:
PMC11508568
ArticlePDF–2.1M
4.
Sensory-Motor Neuropathy in Mfn2 T105M Knock-in Mice and Its Reversal by a Novel Piperine-Derived Mitofusin Activator
Jochen Weigele, Lihong Zhang, Antonietta Franco, Etienne Cartier, Gerald W. Dorn, II
J Pharmacol Exp Ther. 2024 Nov; 391(2): 361–374. Published online 2024 Nov. doi: 10.1124/jpet.124.002258
PMCID:
PMC11493442
ArticlePDF–2.8M
5.
Generation and Characterization of hiPS Lines from Three Patients Affected by Different Forms of HPDL-Related Neurological Disorders
Matteo Baggiani, Devid Damiani, Flavia Privitera, Stefania Della Vecchia, Alessandra Tessa, Filippo Maria Santorelli
Int J Mol Sci. 2024 Oct; 25(19): 10614. Published online 2024 Oct 2. doi: 10.3390/ijms251910614
PMCID:
PMC11477155
ArticlePDF–27M
6.
Spastin accumulation and motor neuron defects caused by a novel SPAST splice site mutation
Min Luo, Yanying Wang, Jinxiu Liang, Xinhua Wan
J Transl Med. 2024; 22: 872. Published online 2024 Sep 27. doi: 10.1186/s12967-024-05669-8
PMCID:
PMC11429824
ArticlePDF–4.7M
7.
Fam134c and Fam134b shape axonal endoplasmic reticulum architecture in vivo
Francescopaolo Iavarone, Marta Zaninello, Michela Perrone, Mariagrazia Monaco, Esther Barth, Felix Gaedke, Maria Teresa Pizzo, Giorgia Di Lorenzo, Vincenzo Desiderio, Eduardo Sommella, Fabrizio Merciai, Emanuela Salviati, Pietro Campiglia, Livio Luongo, Elvira De Leonibus, Elena Rugarli, Carmine Settembre
EMBO Rep. 2024 Aug; 25(8): 3651–3677. Published online 2024 Jul 22. doi: 10.1038/s44319-024-00213-7
PMCID:
PMC11316074
ArticlePDF–22M
8.
Hereditary spastic paraparesis type 18 (SPG18): new ERLIN2 variants in a series of Italian patients, shedding light upon genetic and phenotypic variability
Ettore Cioffi, Valeria Gioiosa, Alessandra Tessa, Antonio Petrucci, Rosanna Trovato, Filippo Maria Santorelli, Carlo Casali
Neurol Sci. 2024; 45(8): 3845–3852. Published online 2024 Mar 1. doi: 10.1007/s10072-024-07423-w
PMCID:
PMC11255072
ArticlePDF–711K
9.
SPAST Intragenic CNVs Lead to Hereditary Spastic Paraplegia via a Haploinsufficiency Mechanism
Ewelina Elert-Dobkowska, Iwona Stepniak, Wiktoria Radziwonik-Fraczyk, Amir Jahic, Christian Beetz, Anna Sulek
Int J Mol Sci. 2024 May; 25(9): 5008. Published online 2024 May 3. doi: 10.3390/ijms25095008
PMCID:
PMC11084448
ArticlePDF–1.2M
10.
Charcot–Marie‐Tooth type 2A in vivo models: Current updates
Elena Abati, Mafalda Rizzuti, Alessia Anastasia, Giacomo Pietro Comi, Stefania Corti, Federica Rizzo
J Cell Mol Med. 2024 May; 28(9): e18293. Published online 2024 May 9. doi: 10.1111/jcmm.18293
PMCID:
PMC11081012
ArticlePDF–1.4M
11.
Hereditary spastic paraparesis type 46 (SPG46): new GBA2 variants in a large Italian case series and review of the literature
Ettore Cioffi, Gianluca Coppola, Olimpia Musumeci, Salvatore Gallone, Gabriella Silvestri, Salvatore Rossi, Fiorella Piemonte, Jessica D’Amico, Alessandra Tessa, Filippo Maria Santorelli, Carlo Casali
Neurogenetics. 2024; 25(2): 51–67. Published online 2024 Feb 9. doi: 10.1007/s10048-024-00749-9
PMCID:
PMC11076336
ArticlePDF–1.1M
12.
Vitamin D3 deficiency and osteopenia in spastic paraplegia type 5 indicate impaired bone homeostasis
Sabrina Ehnert, Stefan Hauser, Holger Hengel, Philip Höflinger, Rebecca Schüle, Tobias Lindig, Jonathan Baets, Tine Deconinck, Peter de Jonghe, Tina Histing, Andreas K. Nüssler, Ludger Schöls, Tim W. Rattay
Sci Rep. 2024; 14: 7335. Published online 2024 Mar 27. doi: 10.1038/s41598-024-53057-5
PMCID:
PMC10973513
ArticlePDF–1.0M
13.
Heterogenous electrophysiological features in early stage of hereditary transthyretin amyloidosis neuropathy
Stefano Tozza, Giovanni Palumbo, Daniele Severi, Aniello Iovino, Emanuele Spina, Francesco Aruta, Emanuele Cassano, Rosa Iodice, Raffaele Dubbioso, Lucia Ruggiero, Maria Nolano, Lucio Santoro, Fiore Manganelli
Neurol Sci. 2024; 45(4): 1685–1689. Published online 2023 Oct 23. doi: 10.1007/s10072-023-07140-w
PMCID:
PMC10942904
ArticlePDF–546K
14.
Pluripotent Stem Cells as a Preclinical Cellular Model for Studying Hereditary Spastic Paraplegias
Devid Damiani, Matteo Baggiani, Stefania Della Vecchia, Valentina Naef, Filippo Maria Santorelli
Int J Mol Sci. 2024 Mar; 25(5): 2615. Published online 2024 Feb 23. doi: 10.3390/ijms25052615
PMCID:
PMC10932093
ArticlePDF–2.6M
15.
Interactome Analysis Reveals a Link of the Novel ALMS1-CEP70 Complex to Centrosomal Clusters
Franziska Woerz, Felix Hoffmann, Shibu Antony, Sylvia Bolz, Mohamed Ali Jarboui, Katrin Junger, Franziska Klose, Isabel F. Stehle, Karsten Boldt, Marius Ueffing, Tina Beyer
Mol Cell Proteomics. 2024 Jan; 23(1): 100701. Published online 2023 Dec 18. doi: 10.1016/j.mcpro.2023.100701
PMCID:
PMC10820798
ArticlePDF–4.3M
16.
Gene Distribution in Pediatric-Onset Inherited Peripheral Neuropathy: A Single Tertiary Center in Thailand
Pimchanok Kulsirichawaroj, Yanin Suksangkharn, Da Eun Nam, Theeraphong Pho-iam, Chanin Limwongse, Ki Wha Chung, Oranee Sanmaneechai, Stephan L. Zuchner, Byung-Ok Choi
J Neuromuscul Dis. 2024; 11(1): 191–199. Prepublished online 2023 Nov 2. Published online 2024 Jan 2. doi: 10.3233/JND-230174
PMCID:
PMC10789325
ArticlePDF–301K
17.
Loss of the centrosomal protein ALMS1 alters lipid metabolism and the regulation of extracellular matrix-related processes
Brais Bea-Mascato, Eduardo Gómez-Castañeda, Yara E. Sánchez-Corrales, Sergi Castellano, Diana Valverde
Biol Direct. 2023; 18: 84. Published online 2023 Dec 8. doi: 10.1186/s13062-023-00441-2
PMCID:
PMC10704752
ArticlePDF–6.9M
18.
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
ArticlePDF–3.9M
19.
Liver-X-receptor agonists rescue axonal degeneration in SPG11-deficient neurons via regulating cholesterol trafficking
Eric Chai, Zhenyu Chen, Yongchao Mou, Gitika Thakur, Weihai Zhan, Xue-Jun Li
Neurobiol Dis. Author manuscript; available in PMC 2023 Nov 17.
Published in final edited form as: Neurobiol Dis. 2023 Oct 15; 187: 106293. Published online 2023 Sep 13. doi: 10.1016/j.nbd.2023.106293
PMCID:
PMC10655618
ArticlePDF–3.0M
20.
Canine models of Charcot-Marie-Tooth: MTMR2, MPZ, and SH3TC2 variants in Golden Retrievers with congenital hypomyelinating polyneuropathy
Shawna Cook, Blair N Hooser, D. Colette Williams, Gregg Kortz, Monica Aleman, Katie Minor, Jennifer Koziol, Steven G. Friedenberg, Jonah N Cullen, G. Diane Shelton, Kari J Ekenstedt
Neuromuscul Disord. Author manuscript; available in PMC 2024 Aug 1.
Published in final edited form as: Neuromuscul Disord. 2023 Aug; 33(8): 677–691. Published online 2023 Jun 22. doi: 10.1016/j.nmd.2023.06.007
PMCID:
PMC10530471
ArticlePDF–1.9M

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