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Page 1
Description of clinical and genetic features of 122 patients included in the Spanish Pompe registry.
Martinez-Marin RJ, Reyes-Leiva D, Nascimento A, Muelas N, Dominguez-González C, Paradas C, Olivé M, García-Romero M, Pascual-Pascual SI, Grau JM, Barba-Romero MA, Gomez-Caravaca MT, de Las Heras J, Casquero P, Mendoza MD, de León JC, Gutierrez A, Morís G, Blanco-Lago R, Ramos-Fransi A, Pintós G, García-Antelo MJ, Rabasa M, Morgado Y, Usón M, Miralles FJ, Bárcena-Llona JE, Gómez-Belda AB, Pedraza-Hueso MI, Hortelano M, Colomé A, Garcia-Martin G, Lopez de Munain A, Jericó I, Galán-Dávila L, Pardo J, Salgueiro-Origlia G, Alonso-Pérez J, Pla-Junca F, Schiava M, Segovia-Simón S, Díaz-Manera J. Martinez-Marin RJ, et al. Among authors: dominguez gonzalez c. Neuromuscul Disord. 2024 Jan;34:1-8. doi: 10.1016/j.nmd.2023.10.001. Epub 2023 Nov 13. Neuromuscul Disord. 2024. PMID: 38087756
Resting state functional MRI reveals abnormal network connectivity in orthostatic tremor.
Benito-León J, Louis ED, Manzanedo E, Hernández-Tamames JA, Álvarez-Linera J, Molina-Arjona JA, Matarazzo M, Romero JP, Domínguez-González C, Domingo-Santos Á, Sánchez-Ferro Á. Benito-León J, et al. Medicine (Baltimore). 2016 Jul;95(29):e4310. doi: 10.1097/MD.0000000000004310. Medicine (Baltimore). 2016. PMID: 27442678 Free PMC article.
A new muscle glycogen storage disease associated with glycogenin-1 deficiency.
Malfatti E, Nilsson J, Hedberg-Oldfors C, Hernandez-Lain A, Michel F, Dominguez-Gonzalez C, Viennet G, Akman HO, Kornblum C, Van den Bergh P, Romero NB, Engel AG, DiMauro S, Oldfors A. Malfatti E, et al. Ann Neurol. 2014 Dec;76(6):891-8. doi: 10.1002/ana.24284. Epub 2014 Oct 31. Ann Neurol. 2014. PMID: 25272951 Free PMC article.
Making sense of missense variants in TTN-related congenital myopathies.
Rees M, Nikoopour R, Fukuzawa A, Kho AL, Fernandez-Garcia MA, Wraige E, Bodi I, Deshpande C, Özdemir Ö, Daimagüler HS, Pfuhl M, Holt M, Brandmeier B, Grover S, Fluss J, Longman C, Farrugia ME, Matthews E, Hanna M, Muntoni F, Sarkozy A, Phadke R, Quinlivan R, Oates EC, Schröder R, Thiel C, Reimann J, Voermans N, Erasmus C, Kamsteeg EJ, Konersman C, Grosmann C, McKee S, Tirupathi S, Moore SA, Wilichowski E, Hobbiebrunken E, Dekomien G, Richard I, Van den Bergh P, Domínguez-González C, Cirak S, Ferreiro A, Jungbluth H, Gautel M. Rees M, et al. Acta Neuropathol. 2021 Mar;141(3):431-453. doi: 10.1007/s00401-020-02257-0. Epub 2021 Jan 15. Acta Neuropathol. 2021. PMID: 33449170 Free PMC article.
Correspondence between neurophysiological and clinical measurements of chemotherapy-induced peripheral neuropathy: secondary analysis of data from the CI-PeriNomS study.
Griffith KA, Dorsey SG, Renn CL, Zhu S, Johantgen ME, Cornblath DR, Argyriou AA, Cavaletti G, Merkies IS, Alberti P, Postma TJ, Rossi E, Frigeni B, Bruna J, Velasco R, Kalofonos HP, Psimaras D, Ricard D, Pace A, Galie E, Briani C, Dalla Torre C, Faber CG, Lalisang RI, Boogerd W, Brandsma D, Koeppen S, Hense J, Storey DJ, Kerrigan S, Schenone A, Fabbri S, Valsecchi MG; CI-PeriNomS Group. Griffith KA, et al. J Peripher Nerv Syst. 2014 Jun;19(2):127-35. doi: 10.1111/jns5.12064. J Peripher Nerv Syst. 2014. PMID: 24814100 Free PMC article.
The chemotherapy-induced peripheral neuropathy outcome measures standardization study: from consensus to the first validity and reliability findings.
Cavaletti G, Cornblath DR, Merkies ISJ, Postma TJ, Rossi E, Frigeni B, Alberti P, Bruna J, Velasco R, Argyriou AA, Kalofonos HP, Psimaras D, Ricard D, Pace A, Galiè E, Briani C, Dalla Torre C, Faber CG, Lalisang RI, Boogerd W, Brandsma D, Koeppen S, Hense J, Storey D, Kerrigan S, Schenone A, Fabbri S, Valsecchi MG; CI-PeriNomS Group; Mazzeo A, Pace A, Pessino A, Schenone A, Toscano A, Argyriou AA, Brouwer B, Frigeni B, Piras B, Briani C, Dalla Torre C, Dominguez Gonzalez C, Faber CG, Tomasello C, Binda D, Brandsma D, Cortinovis D, Psimaras D, Ricard D, Storey D, Cornblath DR, Galiè E, Lindeck Pozza E, Rossi E, Vanhoutte EK, Lanzani F, Pastorelli F, Altavilla G, Cavaletti G, Granata G, Kalofonos HP, Ghignotti I, Merkies ISJ, Bruna J, Hense J, Heimans JJ, Mattavelli L, Padua L, Reni L, Bakkers M, Boogerd M, Campagnolo M, Cazzaniga M, Eurelings M, Leandri M, Lucchetta M, Penas Prado M, Russo M, Valsecchi MG, Piatti ML, Alberti P, Bidoli P, Grant R, Plasmati R, Velasco R, Lalisang RI, Meijer RJ, Fabbri S, Dorsey SG, Galimberti S, Kerrigan S, Koeppen S, Postma TJ, Boogerd W, Grisold W. Cavaletti G, et al. Ann Oncol. 2013 Feb;24(2):454-462. doi: 10.1093/annonc/mds329. Epub 2012 Aug 21. Ann Oncol. 2013. PMID: 22910842 Free PMC article.
A novel RRM2B gene variant associated with Telbivudine-induced mitochondrial myopathy.
Hernández-Laín A, Guerrero AM, Domínguez-González C, Fernández-Vázquez I, Maya DG, Delmiro A, Arenas J, Morales JR, Blázquez A, Moran M, Martín MA. Hernández-Laín A, et al. J Neurol Sci. 2015 Nov 15;358(1-2):481-3. doi: 10.1016/j.jns.2015.08.1550. Epub 2015 Sep 2. J Neurol Sci. 2015. PMID: 26359855 No abstract available.
106 results