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23 results

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Page 1
Genetic analysis and natural history of Charcot-Marie-Tooth disease CMTX1 due to GJB1 variants.
Record CJ, Skorupinska M, Laura M, Rossor AM, Pareyson D, Pisciotta C, Feely SME, Lloyd TE, Horvath R, Sadjadi R, Herrmann DN, Li J, Walk D, Yum SW, Lewis RA, Day J, Burns J, Finkel RS, Saporta MA, Ramchandren S, Weiss MD, Acsadi G, Fridman V, Muntoni F, Poh R, Polke JM, Zuchner S, Shy ME, Scherer SS, Reilly MM; Inherited Neuropathies Consortium—Rare Disease Clinical Research Network. Record CJ, et al. Brain. 2023 Oct 3;146(10):4336-4349. doi: 10.1093/brain/awad187. Brain. 2023. PMID: 37284795 Free PMC article.
TRPV4 neuromuscular disease registry highlights bulbar, skeletal and proximal limb manifestations.
Kosmanopoulos G, Donohue JK, Hoke M, Thomas S, Peyton MA, Vo L, Crawford TO, Sadjadi R, Herrmann DN, Yum SW, Reilly MM, Scherer SS, Finkel RS, Lewis RA, Pareyson D, Pisciotta C, Walk D, Shy ME, Sumner CJ; Inherited Neuropathy Consortium; McCray BA. Kosmanopoulos G, et al. Brain. 2024 Jun 25:awae201. doi: 10.1093/brain/awae201. Online ahead of print. Brain. 2024. PMID: 38917025
Daytime sleepiness and sleep quality in Charcot-Marie-Tooth disease.
Bellofatto M, Gentile L, Bertini A, Tramacere I, Manganelli F, Fabrizi GM, Schenone A, Santoro L, Cavallaro T, Grandis M, Previtali SC, Scarlato M, Allegri I, Padua L, Pazzaglia C, Villani F, Cavalca E, Saveri P, Quattrone A, Valentino P, Tozza S, Russo M, Mazzeo A, Vita G, Piacentini S, Didato G, Pisciotta C, Pareyson D; Italian C. M. T. Network. Bellofatto M, et al. J Neurol. 2023 Nov;270(11):5561-5568. doi: 10.1007/s00415-023-11911-y. Epub 2023 Aug 4. J Neurol. 2023. PMID: 37540277 Free PMC article.
Use, tolerability, benefits and side effects of orthotic devices in Charcot-Marie-Tooth disease.
Bertini A, Manganelli F, Fabrizi GM, Schenone A, Santoro L, Cavallaro T, Tagliapietra M, Grandis M, Previtali SC, Falzone YM, Allegri I, Padua L, Pazzaglia C, Tramacere I, Cavalca E, Saveri P, Quattrone A, Valentino P, Tozza S, Gentile L, Russo M, Mazzeo A, Vita G, Prada V, Zuccarino R, Ferraro F, Pisciotta C, Pareyson D; Italian CMT Network. Bertini A, et al. J Neurol Neurosurg Psychiatry. 2024 Apr 12;95(5):434-441. doi: 10.1136/jnnp-2023-332422. J Neurol Neurosurg Psychiatry. 2024. PMID: 37918904 Free PMC article.
Material-specific binding peptides empower sustainable innovations in plant health, biocatalysis, medicine and microplastic quantification.
Mao M, Ahrens L, Luka J, Contreras F, Kurkina T, Bienstein M, Sárria Pereira de Passos M, Schirinzi G, Mehn D, Valsesia A, Desmet C, Serra MÁ, Gilliland D, Schwaneberg U. Mao M, et al. Among authors: schirinzi g. Chem Soc Rev. 2024 Jun 17;53(12):6445-6510. doi: 10.1039/d2cs00991a. Chem Soc Rev. 2024. PMID: 38747901 Review.
Correction to: Daytime sleepiness and sleep quality in Charcot-Marie-Tooth disease.
Bellofatto M, Gentile L, Bertini A, Tramacere I, Manganelli F, Fabrizi GM, Schenone A, Santoro L, Cavallaro T, Grandis M, Previtali SC, Scarlato M, Allegri I, Padua L, Pazzaglia C, Villani F, Cavalca E, Saveri P, Quattrone A, Valentino P, Tozza S, Russo M, Mazzeo A, Vita G, Piacentini S, Didato G, Pisciotta C, Pareyson D; Italian C. M. T. Network. Bellofatto M, et al. J Neurol. 2023 Nov;270(11):5569-5570. doi: 10.1007/s00415-023-11989-4. J Neurol. 2023. PMID: 37733102 Free PMC article. No abstract available.
Enhanced Wiener filter for ultrasound image restoration.
Baselice F, Ferraioli G, Ambrosanio M, Pascazio V, Schirinzi G. Baselice F, et al. Among authors: schirinzi g. Comput Methods Programs Biomed. 2018 Jan;153:71-81. doi: 10.1016/j.cmpb.2017.10.006. Epub 2017 Oct 7. Comput Methods Programs Biomed. 2018. PMID: 29157463
Trace analysis of polystyrene microplastics in natural waters.
Schirinzi GF, Llorca M, Seró R, Moyano E, Barceló D, Abad E, Farré M. Schirinzi GF, et al. Chemosphere. 2019 Dec;236:124321. doi: 10.1016/j.chemosphere.2019.07.052. Epub 2019 Jul 8. Chemosphere. 2019. PMID: 31319300
23 results