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1984 1
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2008 3
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2011 2
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23 results

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Page 1
Lentiviral haematopoietic stem-cell gene therapy for early-onset metachromatic leukodystrophy: long-term results from a non-randomised, open-label, phase 1/2 trial and expanded access.
Fumagalli F, Calbi V, Natali Sora MG, Sessa M, Baldoli C, Rancoita PMV, Ciotti F, Sarzana M, Fraschini M, Zambon AA, Acquati S, Redaelli D, Attanasio V, Miglietta S, De Mattia F, Barzaghi F, Ferrua F, Migliavacca M, Tucci F, Gallo V, Del Carro U, Canale S, Spiga I, Lorioli L, Recupero S, Fratini ES, Morena F, Silvani P, Calvi MR, Facchini M, Locatelli S, Corti A, Zancan S, Antonioli G, Farinelli G, Gabaldo M, Garcia-Segovia J, Schwab LC, Downey GF, Filippi M, Cicalese MP, Martino S, Di Serio C, Ciceri F, Bernardo ME, Naldini L, Biffi A, Aiuti A. Fumagalli F, et al. Lancet. 2022 Jan 22;399(10322):372-383. doi: 10.1016/S0140-6736(21)02017-1. Lancet. 2022. PMID: 35065785 Free PMC article. Clinical Trial.
Most treated patients progressively acquired motor skills within the predicted range of healthy children or had stabilised motor performance (maintaining the ability to walk). Further, most displayed normal cognitive development and prevention or delay of central and pe …
Most treated patients progressively acquired motor skills within the predicted range of healthy children or had stabilised motor perf …
The clinical features of combined central and peripheral demyelination and antibodies against the node of Ranvier.
Hou X, Liang Y, Cui P, Hao J. Hou X, et al. Mult Scler. 2022 Mar;28(3):453-462. doi: 10.1177/13524585211028126. Epub 2021 Oct 1. Mult Scler. 2022. PMID: 34595962
BACKGROUND: Combined central and peripheral demyelination (CCPD) is a disease of inflammatory demyelination that affects central and peripheral nerves simultaneously or temporally separated. ...At the illness peak, 75% of patients with CCPD had an mRS (modified Rank …
BACKGROUND: Combined central and peripheral demyelination (CCPD) is a disease of inflammatory demyelination that affects centr …
Combined central and peripheral demyelination: Clinical features, diagnostic findings, and treatment.
Cortese A, Franciotta D, Alfonsi E, Visigalli N, Zardini E, Diamanti L, Prunetti P, Osera C, Gastaldi M, Berzero G, Pichiecchio A, Piccolo G, Lozza A, Piscosquito G, Salsano E, Ceroni M, Moglia A, Bono G, Pareyson D, Marchioni E. Cortese A, et al. J Neurol Sci. 2016 Apr 15;363:182-7. doi: 10.1016/j.jns.2016.02.022. Epub 2016 Feb 10. J Neurol Sci. 2016. PMID: 27000248
Combined central and peripheral demyelination (CCPD) is rare, and current knowledge is based on case reports and small case series. The aim of our study was to describe the clinical features, diagnostic results, treatment and outcomes in a large cohort of patients w …
Combined central and peripheral demyelination (CCPD) is rare, and current knowledge is based on case reports and small case se …
Biallelic mutations in neurofascin cause neurodevelopmental impairment and peripheral demyelination.
Efthymiou S, Salpietro V, Malintan N, Poncelet M, Kriouile Y, Fortuna S, De Zorzi R, Payne K, Henderson LB, Cortese A, Maddirevula S, Alhashmi N, Wiethoff S, Ryten M, Botia JA, Provitera V, Schuelke M, Vandrovcova J; SYNAPS Study Group; Walsh L, Torti E, Iodice V, Najafi M, Karimiani EG, Maroofian R, Siquier-Pernet K, Boddaert N, De Lonlay P, Cantagrel V, Aguennouz M, El Khorassani M, Schmidts M, Alkuraya FS, Edvardson S, Nolano M, Devaux J, Houlden H. Efthymiou S, et al. Brain. 2019 Oct 1;142(10):2948-2964. doi: 10.1093/brain/awz248. Brain. 2019. PMID: 31501903 Free PMC article.
Expression studies using immunostaining-based techniques identified absent expression of the Nfasc155 isoform as a consequence of the frameshift variant and a significant reduction of expression was also observed in association with two non-synonymous variants affecting th …
Expression studies using immunostaining-based techniques identified absent expression of the Nfasc155 isoform as a consequence of the frames …
A case with Neurofascin-155 IgG antibody-associated combined central and peripheral demyelination: Successfully treated with anti-CD20 monoclonal antibody.
Sokmen O, Demirci M, Tan E. Sokmen O, et al. Clin Neurol Neurosurg. 2021 Nov;210:106961. doi: 10.1016/j.clineuro.2021.106961. Epub 2021 Sep 28. Clin Neurol Neurosurg. 2021. PMID: 34624826
Combined central and peripheral demyelination (CCPD) is an infrequent entity in which demyelination is observed in central (CNS) and peripheral nervous systems (PNS). ...
Combined central and peripheral demyelination (CCPD) is an infrequent entity in which demyelination is observed in cent …
Neurological deficits during treatment with tumor necrosis factor-alpha antagonists.
Nozaki K, Silver RM, Stickler DE, Abou-Fayssal NG, Giglio P, Kamen DL, Daniel R, Judson MA. Nozaki K, et al. Am J Med Sci. 2011 Nov;342(5):352-5. doi: 10.1097/MAJ.0b013e31822b7bb8. Am J Med Sci. 2011. PMID: 21876428 Review.
Etanercept, infliximab or adalimumab was administered to these patients. Neurological complications included central or peripheral demyelination (5), antiphospholipid syndrome/central nervous system lupus (1), Epstein-Barr virus encephalitis (1), axonal sensory poly …
Etanercept, infliximab or adalimumab was administered to these patients. Neurological complications included central or peripheral …
Possible Combined Central and Peripheral Demyelination Presenting as Optic Neuritis, Cervical Myelitis, and Demyelinating Polyneuropathy with Marked Nerve Hypertrophy.
Tajima Y, Matsumura M, Yaguchi H, Mito Y. Tajima Y, et al. Intern Med. 2018;57(6):867-871. doi: 10.2169/internalmedicine.7153-16. Epub 2018 Mar 15. Intern Med. 2018. PMID: 29540658 Free PMC article.
It was hypothesized that the diagnosis was combined central and peripheral demyelination. A hypertrophic nerve was observed subcutaneously, and magnetic resonance imaging demonstrated marked hypertrophy of the nerve roots. ...
It was hypothesized that the diagnosis was combined central and peripheral demyelination. A hypertrophic nerve was observed …
Nodal-paranodal antibodies in HIV-immune mediated radiculo-neuropathies: Clinical phenotypes and relevance.
Moodley K, Patel VB, Moodley AA, Bill PLA, Kajee A, Mgbachi V, Fehmi J, Rinaldi S. Moodley K, et al. J Peripher Nerv Syst. 2023 Dec;28(4):578-585. doi: 10.1111/jns.12596. Epub 2023 Oct 20. J Peripher Nerv Syst. 2023. PMID: 37676746
RESULTS: Twenty-four HIV-infected patients with IMRN were included in the study, 15 with chronic inflammatory demyelinating polyneuropathy (CIDP), 4 with ventral root radiculopathies (VRR), and 5 with dorsal root ganglionopathies (DRG). Five patients with CIDP had combined centra …
RESULTS: Twenty-four HIV-infected patients with IMRN were included in the study, 15 with chronic inflammatory demyelinating polyneuropathy ( …
Impact of psychiatric distress and physical disability on quality of life in neuromyelitis optica spectrum disorder and chronic autoimmune demyelinating polyneuropathies.
Yalachkov Y, Soydaş D, Uhlmann V, Behrens M, Frisch S, Foerch C, Gehrig J. Yalachkov Y, et al. Mult Scler Relat Disord. 2021 Feb;48:102711. doi: 10.1016/j.msard.2020.102711. Epub 2020 Dec 28. Mult Scler Relat Disord. 2021. PMID: 33383364
In this exploratory study, we aimed to identify common determinants of QoL for both central and peripheral demyelination in the understudied disease entities of neuromyelitis optica spectrum disorder (NMOSD) and chronic autoimmune demyelinating polyneuropathy (CADP) …
In this exploratory study, we aimed to identify common determinants of QoL for both central and peripheral demyelination in th …
The effect of Lorenzo's oil on oxidative stress in X-linked adrenoleukodystrophy.
Deon M, Wajner M, Sirtori LR, Fitarelli D, Coelho DM, Sitta A, Barschak AG, Ferreira GC, Haeser A, Giugliani R, Vargas CR. Deon M, et al. J Neurol Sci. 2006 Sep 25;247(2):157-64. doi: 10.1016/j.jns.2006.04.004. Epub 2006 Jun 5. J Neurol Sci. 2006. PMID: 16750542 Clinical Trial.
Although patients affected by this disorder predominantly present central and peripheral demyelination as well as adrenal insufficiency, the mechanisms underlying the brain damage in X-ALD are poorly known. ...Considering that free radical generation is involved in …
Although patients affected by this disorder predominantly present central and peripheral demyelination as well as adrenal insu …
23 results