Zobrazeno 1 - 10
of 354
pro vyhledávání: '"Holton, JL"'
Autor:
Matthews, E, Neuwirth, C, Jaffer, F, Scalco, RS, Fialho, D, Parton, M, Rayan, D, Suetterlin, K, Sud, R, Spiegel, R, Mein, R, Houlden, H, Schaefer, A, Healy, E, Palace, J, Quinlivan, R, Treves, S, Holton, JL, Jungbluth, H, Hanna, MG
Publikováno v:
Matthews, E, Neuwirth, C, Jaffer, F, Scalco, R S, Fialho, D, Parton, M, Raja Rayan, D, Suetterlin, K, Sud, R, Spiegel, R, Mein, R, Houlden, H, Schaefer, A, Healy, E, Palace, J, Quinlivan, R, Treves, S, Holton, J L, Jungbluth, H & Hanna, M G 2018, ' Atypical periodic paralysis and myalgia : A novel RYR1 phenotype ', Neurology, vol. 90, no. 5, pp. e1-e7 . https://doi.org/10.1212/WNL.0000000000004894
OBJECTIVE: To characterize the phenotype of patients with symptoms of periodic paralysis (PP) and ryanodine receptor (RYR1) gene mutations.METHODS: Cases with a possible diagnosis of PP but additional clinicopathologic findings previously associated
Autor:
Batla, A, De Pablo-Fernandez, E, Erro, R, Reich, M, Calandra-Buonaura, G, Barbosa, P, Balint, B, Ling, H, Islam, S, Cortelli, P, Volkmann, J, Quinn, N, Holton, Jl, Warner, Tt, Bhatia, Kp.
Background: The onset of multiple system atrophy (MSA) before age 40 years is referred to as “young-onset MSA.” We identified clinical and pathological characteristics that might help with its early diagnosis and distinction from young-onset Park
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::a78690779c3833d956a5127c1220e0cd
http://hdl.handle.net/11585/642763
http://hdl.handle.net/11585/642763
Autor:
Bugiardini, E, Poole, OV, Manole, A, Pittman, AM, Horga, A, Hargreaves, IP, Woodward, CE, Sweeney, MG, Holton, JL, Taanman, J-W, Plant, GT, Poulton, J, Zeviani, M, Ghezzi, D, Taylor, J, Smith, C, Fratter, C, Kanikannan, MA, Paramasivam, A, Thangaraj, K, Spinazzola, A, Holt, IJ, Houlden, H, Hanna, MG, Pitceathly, RD
Publikováno v:
Neurology: Genetics
Objective Pathologic ribonuclease H1 (RNase H1) causes aberrant mitochondrial DNA (mtDNA) segregation and is associated with multiple mtDNA deletions. We aimed to determine the prevalence of RNase H1 gene (RNASEH1) mutations among patients with mitoc
Autor:
Sailer, A, Scholz, SW, Nalls, MA, Schulte, C, Federoff, M, Price, TR, Lees, A, Ross, OA, Dickson, DW, Mok, K, Mencacci, NE, Schottlaender, L, Chelban, V, Ling, H, O'Sullivan, SS, Wood, NW, Traynor, BJ, Ferrucci, L, Federoff, HJ, Mhyre, TR, Morris, HR, Deuschl, G, Quinn, N, Widner, H, Albanese, A, Infante, J, Bhatia, KP, Poewe, W, Oertel, W, Hoglinger, GU, Wullner, U, Goldwurm, S, Pellecchia, MT, Ferreira, J, Tolosa, E, Bloem, BR, Rascol, O, Meissner, WG, Hardy, JA, Revesz, T, Holton, JL, Gasser, T, Wenning, GK, Singleton, AB, Houlden, H, Atrophy, EMS, Grp, UMSAS
Publikováno v:
Sailer, A; Scholz, SW; Nalls, MA; Schulte, C; Federoff, M; Price, TR; et al.(2016). A genome-wide association study in multiple system atrophy. NEUROLOGY, 87(15), 1591-1598. doi: 10.1212/WNL.0000000000003221. UC Irvine: Retrieved from: http://www.escholarship.org/uc/item/14r5510v
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od_______325::6f3c66a68fe41f81e8c4fb352da94444
http://www.escholarship.org/uc/item/14r5510v
http://www.escholarship.org/uc/item/14r5510v
Autor:
Goebel, Hh, Bönnemann, Cg, Rare Structural Myopathy Consortium (Bertini, E, Bonnemann, Cg, Boersen, A, Clarke, N, Figarella Branger, D, Hubner, A, Holton, Jl, Kirshner, J, Lammens, M, Moore, S, Nonaka, I, Olive’, M, Pegoraro, Elena, Polvikoski, T, Schessl, J, Sewry, C, Taratuto, Al
Publikováno v:
Neuromuscular Disorders. 21:363-374
This international ENMC workshop assembled 18 clinicians and scientists from Europe, the United States of America, South America, Japan and Australia to discuss “Rare Structural Congenital Myopathies (CM)”. This workshop can be considered a follo
Autor:
Ozawa, T, Healy, Dg, ABOU SLEIMAN PM, Ahmadi, Kr, Quinn, N, Lees, Aj, Shaw, K, Wullner, U, Berciano, J, Moller, Jc, Kamm, C, Burk, K, Josephs, Ka, Barone, Paolo, Tolosa, E, Goldstein, Db, Wenning, G, Geser, F, Holton, Jl, Gasser, T, Revesz, T, Wood, Nw, EUROPEAN MSA STUDY GROUP, Pellecchia, MARIA TERESA
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od______3666::58fdba17c63b9fc8537fcc74ebe8aa0d
http://hdl.handle.net/11386/3093761
http://hdl.handle.net/11386/3093761
Akademický článek
Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.
K zobrazení výsledku je třeba se přihlásit.