Publicacions científiques

Article

Mutations in the m-AAA proteases AFG3L2 and SPG7 are causing isolated dominant optic atrophy.

Autor/s:

Charif M, Chevrollier A, Gueguen N, Bris C, Goudenège D, Desquiret-Dumas V, Leruez S, Colin E, Meunier A, Vignal C, Smirnov V, Defoort-Dhellemmes S, Drumare Bouvet I, Goizet C, Votruba M, Jurkute N, Yu-Wai-Man P, Tagliavini F, Caporali L, La Morgia C, Carelli V, Procaccio V, Zanlonghi X, Meunier I...

Any publicació:

2020

Número de revista:

Neurology® Genetics. vol. 6 n. 3

https://ng.neurology.org/content/6/3/e428

Article

Myasthenia gravis following dabrafenib and trametinib for metastatic melanoma.

Autor/s:

Zaloum A, Falet JR, Elkrief A, Chalk C.

Clinical/Scientific Notes

Any publicació:

2020

Número de revista:

Neurology vol. 94 n. 7

https://n.neurology.org/content/94/7/322

Article

Myasthenic crisis demanding mechanical ventilation: A multicenter analysis of 250 cases

Autor/s:

Neumann B, Angstwurm K, Mergenthaler P, Kohler S, Schönenberger S, Bösel J, Neumann U, Vidal A, Huttner HB, Gerner ST, Thieme A, Steinbrecher A, Dunkel J, Roth C, Schneider H, Schimmel E, Fuhrer H, Fahrendorf C, Alberty A, Zinke J, Meisel A, Dohmen C, Stetefeld HR; German Myasthenic Crisis Study...

Any publicació:

2020

Número de revista:

Neurology vol. 94 n. 3

http://n.neurology.org/content/94/3/e299.abstract

Article

MYORG-related disease is associated with central pontine calcifications and atypical parkinsonism.

Autor/s:

Chelban V, Carecchio M, Rea G, Bowirrat A, Kirmani S, Magistrelli L, Efthymiou S, Schottlaender L, Vandrovcova J, Salpietro V, Salsano E, Pareyson D, Chiapparini L, Jan F, Ibrahim S, Khan F, Qarnain Z, Groppa S, Bajaj N, Balint B, Bhatia KP, Lees A, Morrison PJ, Wood NW, Garavaglia B, Houlden H.

Any publicació:

2020

Número de revista:

Neurology® Genetics. vol. 6 n. 2

https://ng.neurology.org/content/6/2/e399

Article