Results 161 to 170 of about 17,793 (220)

Distal myopathy [PDF]

, 2020
openaire   +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

A novel recessive TTN founder variant is a common cause of distal myopathy in the Serbian population. [PDF]

Eur J Hum Genet, 2017
Perić S, Glumac JN, Töpf A, Savić-Pavićević D, Phillips L, Johnson K, Cassop-Thompson M, Xu L, Bertoli M, Lek M, MacArthur D, Brkušanin M, Milenković S, Rašić VM, Banko B, Maksimović R, Lochmüller H, Stojanović VR, Straub V.   +18 more
europepmc   +1 more source

Consistent MRI pattern in ADSS1 myopathy with variable clinical presentations: A Korean cohort study. [PDF]

PLoS One
Kim SH, Choi Y, Park HJ, Hong JM, Choi YC.   +4 more
europepmc   +1 more source

Reducing Body Myopathy in Female Patients With <i>FHL1</i> Variants Showing Rapid and Severe Evolution Mimicking Inflammatory Myopathy: A Case Series. [PDF]

Neurol Genet
Severa G, Barnerias C, Gitiaux C, Laforet P, Desguerre I, Souvannanorath S, Periou B, Bastu S, Prigent H, Romero NB, Bonaldo P, Merlini L, Cenacchi G, Pegoraro E, Bello L, Rendu J, Villanova M, Carlier RY, Malfatti E, Authier FJ.   +19 more
europepmc   +1 more source

ACTA1-Related Adult-Onset Scapuloperoneal Myopathy With Cores and Rods. [PDF]

Neuropathol Appl Neurobiol
Caramizaru A, Onnée M, Nikitin S, Dobrescu A, Severa G, Murtazina A, Urtizberea A, Lefaucheur JP, Carlier RY, Metay C, Malfatti E.   +10 more
europepmc   +1 more source

Multi-Parametric MRI Approach at 3 T and 7 T for Assessing Skeletal Muscle Pathology in Myofibrillar Myopathies: A Pilot Study. [PDF]

J Cachexia Sarcopenia Muscle
Mathy CS, Gast LV, Holtzhausen C, Gerhalter T, Stuprich C, Türk M, Heiss R, Marty B, Laun FB, Wanschitz JV, Hametner S, Dörfler A, Uder M, Bäuerle T, Nagel AM, Schröder R.   +15 more
europepmc   +1 more source

Dysferlinopathies: phenotypic study of a Moroccan series of 28 cases. [PDF]

Acta Myol
Mouloudi N, Kably B, Sefiani S, Birouk N.   +3 more
europepmc   +1 more source

Extraosseous ^99mTc-MDP Uptake Guiding Intraoperative Sampling in Severe Inflammatory Myopathy: A Case Report and Literature Review. [PDF]

Diagnostics (Basel)
Maharaj M, Sirriram S, Govender N, Govender T, Bhana BD, Korowlay N.   +5 more
europepmc   +1 more source

Anaesthetic Management of a Patient With LDB3-Associated Myopathy Undergoing Prostate Biopsy Under Total Intravenous Anaesthesia: A Case Report. [PDF]

Cureus
Swami SS, Campbell M, Basappakokati DR.
europepmc   +1 more source