Results 41 to 50 of about 27,467 (232)

Mitochondrial myopathy and comorbid major depressive disorder. effectiveness of dTMS on gait and mood symptoms [PDF]

open access: yes, 2015
Background: Mitochondrial myopathies (MMs) often present with leukoencephalopathy and psychiatric symptoms, which do not respond to or worsen with psychiatric drugs.
Angeletti, Gloria   +18 more
core   +1 more source

MYH2 myopathy, a new case expands the clinical and pathological spectrum of the recessive form

open access: yesMolecular Genetics & Genomic Medicine, 2020
Background Hereditary myosin myopathies are a group of rare muscle disorders, caused by mutations in genes encoding for skeletal myosin heavy chains (MyHCs). MyHCIIa is encoded by MYH2 and is expressed in fast type 2A and 2B muscle fibers. MYH2 mutations
Roberta Telese   +12 more
doaj   +1 more source

Chronic Progressive External Ophthalmoplegia Is Associated with a Novel Mutation in the Mitochondrial tRNA(Asn) Gene [PDF]

open access: yes, 1994
Chronic progressive external ophthalmoplegia (CPEO) is caused by a decreased oxidative phosphorylation (OXPHOS) activity due to large-scale deletions of the mitochondrial genome in 50 % of the patients.
Kadenbach, B.   +5 more
core   +1 more source

Congenital fibrosis of the extraocular muscles

open access: yesOman Journal of Ophthalmology, 2010
Background : Congenital fibrosis of the extraocular muscles (CFEOM) describes a group of rare congenital eye movement disorders that result from the dysfunction of all or part of the oculomotor (CN 3) and the trochlear (CN 4) nerves, and/or the muscles ...
Pascale Cooymans   +3 more
doaj   +1 more source

To wait for a spontaneous recovery of the third cranial nerve palsy occurring after the coiling of a PcomA aneurysm or to implement surgical treatment? A case report [PDF]

open access: yesVojnosanitetski Pregled, 2017
Introduction. In the last two decades a method of endovascular embolization has been imposed as a method of choice in the treatment of unruptured intracranial aneurysms.
Peulić Miodrag   +3 more
doaj   +1 more source

Síndrome do ápice orbitário causada por herpes zóster oftálmico: relato de caso e revisão da literatura Herpes zoster ophthalmicus and orbital apex syndrome: case report and literature review

open access: yesRevista Brasileira de Oftalmologia, 2009
OHerpes Zoster Oftálmico (HZO) decorre da infecção pelo vírus da varicela-zoster que permanece latente no gânglio de Gasser até que seja reativado e comprometa a divisão oftálmica do nervo trigêmeo.
Kenzo Hokazono   +3 more
doaj   +1 more source

Clinical and magnetic resonance imaging features of idiopathic oculomotor neuropathy in 14 dogs: Canine Idiopathic Oculomotor Neuropathy [PDF]

open access: yes, 2017
Ophthalmoplegia/ophthalmoparesis (internal, external, or both) has been reported in dogs secondary to neoplasia affecting the oculomotor nerve and is usually given a poor prognosis.
Beltran, E   +4 more
core   +2 more sources

Campylobacter jejuni-Associated Hemophagocytic Lymphohistiocytosis and Guillain-Barre Syndrome: A Case Report

open access: yesFrontiers in Medicine, 2022
Campylobacter jejuni (C. jejuni), a Gram-negative bacterium, belongs to microaerobic bacteria. We reported a 21-year-old male patient diagnosed with hemophagocytic lymphohistiocytosis (HLH) due to C. jejuni infection, who presented with multiple clinical
Fang-e Shi   +4 more
doaj   +1 more source

Using Whole Genome Sequencing in an African Subphenotype of Myasthenia Gravis to Generate a Pathogenetic Hypothesis

open access: yesFrontiers in Genetics, 2019
Myasthenia gravis (MG) is a rare, treatable antibody-mediated disease which is characterized by muscle weakness. The pathogenic antibodies are most frequently directed at the acetylcholine receptors (AChRs) at the skeletal muscle endplate.
Melissa Nel   +3 more
doaj   +1 more source

Effects of Selective Deafferentation on the Discharge Characteristics of Medial Rectus Motoneurons [PDF]

open access: yes, 2018
Medial rectus motoneurons receive two main pontine inputs: abducens internuclear neurons, whose axons course through the medial longitudinal fasciculus (MLF), and neurons in the lateral vestibular nucleus, whose axons project through the ascending tract ...
Benítez Temiño, Beatriz   +5 more
core   +1 more source

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