Results 121 to 130 of about 1,301,741 (184)

Juvenile dermatomyositis in Latvia: clinical, radiologic, laboratory, and therapeutic findings from 2010 to 2025. [PDF]

Front Pediatr
Banceviča L, Dāvidsone Z, Budarina K, Rasa K.   +3 more
europepmc   +1 more source

Hypophosphatasia and collagen VI-related muscular dystrophy presenting with gait disturbance and recurrent fractures. [PDF]

JCEM Case Rep
Im YJ, Sohn YB, Choi YJ, Jang MA, Sung DH, Chung YS.   +5 more
europepmc   +1 more source

A Novel Homozygous MYH2 Variant Causing Early-Onset External Ophthalmoplegia and Proximal Myopathy in a Consanguineous Family. [PDF]

Cureus
Hammad MA, Alhroub W, Isaid A.
europepmc   +1 more source

Necrotizing Myopathy Presenting With Guillain-Barré-Like Areflexic Paraparesis, Severe Rhabdomyolysis, and Dialysis-Requiring Acute Kidney Injury. [PDF]

Cureus
Baghdasaryan EJ, Soltani H, Lada S, Simpson C, Nathan R.   +4 more
europepmc   +1 more source

TUBA4A Pathogenic Variant Manifesting With Adulthood-Onset Genetic Myasthenic Syndrome, Myopathy, and Infertility. [PDF]

Eur J Neurol
Milone M, Nicolau S, Niu Z, Liewluck T, Sorenson EJ, Shen XM, Harper CM, Litchy WJ.   +7 more
europepmc   +1 more source

Light Chain Cardiac Amyloidosis With Skeletal Muscle Weakness. [PDF]

JACC Case Rep
Montgomery E, Gorrie N, McCaughan G, Nadel J, Shahi K, Bart NK, Carroll AS.   +6 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

Adult Acute Flaccid Paralysis Associated With Food Consumption: A Tetrodotoxin Poisoning Case Report and Differential Diagnosis. [PDF]

J Acute Med
Wei YH, Wu YC, Ko CA, Yang CC, Mao YC, Ho CH.   +5 more
europepmc   +1 more source

Spinal muscular atrophy with five <i>SMN2</i> copies: Phenotypic heterogeneity and implications for newborn screening and treatment decisions. [PDF]

Front Neurol
Parmova O, Adamova B.
europepmc   +1 more source