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Article
Phenotype variability and natural history of X-linked myopathy with excessive autophagy
X-linked myopathy with excessive autophagy (XMEA) linked to the VMA21 gene leads to autophagy failure with progressive vacuolation and atrophy of skeletal muscles. Current knowledge of this rare disease is limite...
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Article
Open AccessMultidisciplinary team meetings in treatment of spinal muscular atrophy adult patients: a real-life observatory for innovative treatments
In 2017, a new treatment by nusinersen, an antisense oligonucleotide delivered by repeated intrathecal injections, became available for patients with spinal muscular atrophy (SMA), whereas clinical trials had ...
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Article
Myasthenia gravis treatment in the elderly presents with a significant iatrogenic risk: a multicentric retrospective study
Myasthenia gravis (MG) is an autoimmune disease treated with acetylcholinesterase inhibitors and immunosuppressant/immunomodulatory drugs. MG is frequently diagnosed in elderly patients, a fragile population i...
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Article
Melanoma addiction to the long non-coding RNA SAMMSON
A known oncogene, MITF, resides in a region of chromosome 3 that is amplified in melanomas and associated with poor prognosis; now, a long non-coding RNA gene, SAMMSON, is shown to also lie in this region, to als...
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Article
Assessment of mitochondrial respiratory chain enzymatic activities on tissues and cultured cells
The assessment of mitochondrial respiratory chain (RC) enzymatic activities is essential for investigating mitochondrial function in several situations, including mitochondrial disorders, diabetes, cancer, agi...
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Article
Subacute sensory ataxia and optic neuropathy with thiamine deficiency
Spinazzi et al. describe a case of subacute sensory ataxia and bilateral optic neuropathy associated with thiamine deficiency in a patient with a history of partial gastrectomy. The patient responded well to supp...
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Article
Subacute onset of deafness and vertigo in a patient with leptomeningeal metastasis from ovarian cancer
Ovarian carcinoma is a common gynecological malignancy. Distant metastases usually involve the liver and lung while neurological complications are rare. We describe the case of a 63-year-old woman diagnosed fr...
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Article
Myelo-optico-neuropathy in copper deficiency occurring after partial gastrectomy
Acquired copper deficiency has recently been recognized as a cause of myeloneuropathy mimicking subacute combined degeneration due to vitamin B-12 deficiency. A remote history of gastric surgery is frequently ...
