Results 151 to 160 of about 333,621 (210)

Anaesthetic management of a case of distal myopathy

Indian Journal of Anaesthesia, 2014
Neelam Agrawal, Ankur Sharma, Ravindra Batra   +2 more
doaj   +1 more source

Neurofibromatosis Type 2 Presenting with Oculomotor Ophthalmoplegia and Distal Myopathy. [PDF]

Case Rep Ophthalmol Med, 2016
Tevaraj JM, Li Min ET, Mohd Noor RA, Yaakub A, Wan Hitam WH.   +4 more
europepmc   +1 more source

Delving into the clinical and genetic spectrum of NLSDM: A case study. [PDF]

J Neuromuscul Dis
Tavian D, Risi B, Moro L, Pennisi EM, Padovani A, Angelini C, Missaglia S, Filosto M.   +7 more
europepmc   +1 more source

Distal Agrin (AGRN) Congenital Myasthenic Syndrome With Mitochondrial Dysfunction. [PDF]

Eur J Neurol
Oku MM, Niu Z, Selcen D, Litchy WJ, Milone M.   +4 more
europepmc   +1 more source

Analysis of diagnostic pitfalls in 125 genetically confirmed cases of distal myopathies. [PDF]

J Neuromuscul Dis
Subbotin D, Borovikov A, Kuchina A, Sharkova I, Vlasenko A, Rudenskaya G, Nikitin S, Gilvanova O, Degterev D, Druzhinin D, Druzhinina E, Grishina D, Dadali E, Marakhonov A, Chausova P, Fomenko S, Ryzhkova O, Shchagina O, Kutsev S, Murtazina A.   +19 more
europepmc   +1 more source

<i>LRP12</i> CGG Repeat Expansions in Patients With Adult-Onset Non-5q Spinal Muscular Atrophy. [PDF]

Neurol Genet
Naruse H, Mitsui J, Ishiura H, Okubo S, Yoshida C, Mitsutake A, Maruta K, Uchida Y, Nobuhara Y, Okabe H, Nakamura Y, Suzuki R, Hotta Y, Matsukawa T, Tsukamoto H, Kawamura Y, Hara K, Takado Y, Kanzaki M, Uesaka Y, Ishii A, Kitamura A, Urushitani M, Takahashi Y, Kubota A, Maeda M, Shimizu J, Shirota Y, Hamada M, Satake W, Katagiri T, Takahama S, Yamamoto T, Tsuji S, Nakamura Y, Toda T.   +35 more
europepmc   +1 more source

Update and recommendations on genetic testing for amyotrophic lateral sclerosis in clinical practice: a Brazilian expert view. [PDF]

Front Neurol
Sgobbi P, de Rezende Pinto WBV, Seneor DD, Orsini M, Chieia MAT, Oliveira ASB.   +5 more
europepmc   +1 more source

Targeted long-read sequencing enables comprehensive analysis of the genetic and epigenetic landscape of inherited myopathies. [PDF]

Nat Commun
Yeow D, Reis ALM, Stevanovski I, Njo N, Rudaks LI, Grosz BR, Sy JS, Kemp L, Chintalaphani SR, Chin M, Stoll M, Zhu D, Liang C, Morris KA, Hannaford A, Shandiz E, Ahmad KE, El-Wahsh S, Reddel SW, Boland-Freitas R, Ghaoui R, Barnes S, Sturm J, Willard A, Jasinarachchi M, Hawke S, Simon NG, Worgan L, Manser D, Tchan M, Griffith NC, Davis RL, Fahey MC, Sue CM, McCombe PA, Ng K, Kennerson ML, Cheong PL, Kumar KR, Deveson IW.   +39 more
europepmc   +1 more source