Results 101 to 110 of about 1,270,049 (189)

Clinically Suspected Myotonic Dystrophy in Sub-Saharan Africa: A Rare Case Report Highlighting Rehabilitation Challenges. [PDF]

Clin Case Rep
Abie AS, Gizaw S, Berhe T, Yibe B, Elias TP.   +4 more
europepmc   +1 more source

Inclusion-Body Myopathy with Paget Disease of the Bone and Frontotemporal Dementia (IBMPFD) with <i>SCN4A</i> Mutation: Modifying Factor or Not? [PDF]

Diagnostics (Basel)
Tsujimoto S, Hayashi K, Sato M, Hamada T, Suzuki A, Nakaya Y, Miura T, Nishino I, Yoshioka W, Kobayashi Y.   +9 more
europepmc   +1 more source

Neuromodulation for Pain and Fatigue in Hereditary and Acquired Neuromuscular Conditions: A Narrative Review. [PDF]

Curr Pain Headache Rep
Sabiroglu M, Arnold WD.
europepmc   +1 more source

Myotonia: Recognition, Evaluation, and Differential Diagnosis. [PDF]

Muscle Nerve
Crayle JI, Al-Lozi M, Miller TM.
europepmc   +1 more source

3D Radiomic Texture Analysis of Quantitative Muscle MRI Enhances the Distinction Between Myotonic Dystrophy Type 1 and Charcot-Marie-Tooth Neuropathy Type 1A: A Proof-of-Concept Study. [PDF]

Eur J Neurol
Iterbeke L, Huysmans L, Bamps K, Peeters R, Goosens V, Maes F, Dupont P, Claeys KG.   +7 more
europepmc   +1 more source

Myotonic dystrophy family registry. The patient experience. [PDF]

J Neuromuscul Dis
Olmos S, Kuei D, Cumming K, Stevenson T, Rohrwasser A.   +4 more
europepmc   +1 more source

Total energy expenditure assessed by doubly labeled water in patients with myotonic dystrophy type 1: Associations with body composition and functional status. [PDF]

J Neuromuscul Dis
Umemoto G, Hatamoto Y, Arahata H, Fujioka S, Tanoue Y, Yamada Y, Tomiga-Takae R, Higaki Y.   +7 more
europepmc   +1 more source

Long-read sequencing for neurological disorders: opportunities, challenges, and future directions. [PDF]

Neurol Sci
Geiger H, Furuta Y, Perera BLA, Stewart R, Tinker RJ, Phillips JA.   +5 more
europepmc   +1 more source

Diagnostic Odyssey of Myotonic Disorders

EMJ Neurology, 2023
openaire   +1 more source

HSP90 inhibition partially rescues alternative splicing dysregulation in cell models of myotonic dystrophy. [PDF]

J Biol Chem
Zhang J, Mascorro A, Oishi H, Aliyeva A, Shaughnessy S, Sheng J, Reddy K, Cleary JD, Berglund JA.   +8 more
europepmc   +1 more source