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Publicacions científiques

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Article

Multisystem mitochondrial disease caused by a rare m.10038G>A mitochondrial tRNAGly (MT-TG) variant.

Autor/s: 
Poole OV, Horga A, Hardy SA, Bugiardini E, Woodward CE, Hargreaves IP, Merve A, Quinlivan R, Taylor RW, Hanna MG, Pitceathly RDS.
Clinical/Scientific Notes
Any publicació: 
2020
Número de revista: 
Neurology® Genetics. vol. 6 n. 2
https://ng.neurology.org/content/6/2/e413
Article

Multisystem proteinopathy due to a homozygous p.Arg159His VCP mutation: A tale of the unexpected.

Autor/s: 
De Ridder W, Azmi A, Clemen CS, Eichinger L, Hofmann A, Schröder R, Johnson K, Töpf A, Straub V, De Jonghe P, Maudsley S, De Bleecker JL, Baets J.
Any publicació: 
2020
Número de revista: 
Neurology vol. 94 n. 8
https://n.neurology.org/content/94/8/e785
Article de revisió

Muscle MRI: A biomarker of disease severity in Duchenne muscular dystrophy? A systematic review

Autor/s: 
Ropars J, Gravot F, Ben Salem D, Rousseau F, Brochard S, Pons C.
Views & Reviews
Any publicació: 
2020
Número de revista: 
Neurology vol. 94 n. 3
http://n.neurology.org/content/94/3/117.abstract
Article

Muscle strength and motor function in adolescents and adults with spinal muscular atrophy.

Autor/s: 
Wijngaarde CA, Stam M, Otto LAM, Bartels B, Asselman FL, van Eijk RPA, van den Berg LH, Goedee HS, Wadman RI, Ludo van der Pol W.
Any publicació: 
2020
Número de revista: 
Neurology vol. 95 n. 14
https://n.neurology.org/content/95/14/e1988
Article

Muscle Strength Cutoff Points for Functional Independence and Wheelchair Ability in Men With Spinal Cord Injury.

Autor/s: 
Ribeiro Neto F, Gomes Costa RR, Tanhoffer RA, Leal JC, Bottaro M, Carregaro RL.
Any publicació: 
2020
Número de revista: 
Archives of Physical Medicine and Rehabilitation. vol. 101 n. 6
https://www.archives-pmr.org/article/S0003-9993(20)30085-X/fulltext
Article

Muscle ultrasound is a responsive biomarker in facioscapulohumeral dystrophy.

Autor/s: 
Goselink RJM, Schreuder THA, Mul K, Voermans NC, Erasmus CE, van Engelen BGM, van Alfen N.
Any publicació: 
2020
Número de revista: 
Neurology vol. 94 n. 14
https://n.neurology.org/content/94/14/e1480
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

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