Results 91 to 100 of about 16,852 (152)

Distal myopathy [PDF]

, 2020
openaire   +1 more source

Novel <i>HSPB1</i> mutation causes both motor neuronopathy and distal myopathy. [PDF]

Neurol Genet, 2016
Lewis-Smith DJ, Duff J, Pyle A, Griffin H, Polvikoski T, Birchall D, Horvath R, Chinnery PF.   +7 more
europepmc   +1 more source

SQSTM1 splice site mutation in distal myopathy with rimmed vacuoles. [PDF]

Neurology, 2015
Bucelli RC, Arhzaouy K, Pestronk A, Pittman SK, Rojas L, Sue CM, Evilä A, Hackman P, Udd B, Harms MB, Weihl CC.   +10 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

Mutations in HSPB8 causing a new phenotype of distal myopathy and motor neuropathy. [PDF]

Neurology, 2016
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