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SIL1 mutations and clinical spectrum in patients with Marinesco-Sjogren syndrome.
TLDR
The results of SIL1 mutation analysis in 62 patients presenting with early-onset ataxia, cataracts and myopathy or combinations of at least two of these confirmed that SIL1 is the major Marinesco-Sjögren syndrome gene. Expand
Integrated DNA, cDNA, and protein studies in Becker muscular dystrophy show high exception to the reading frame rule
TLDR
Comparing the findings in BMD to previously published DMD data, BMD patients have higher proportions of duplications, a different distribution of mutations, and higher exception to the reading frame rule. Expand
Time distribution of epileptic seizures during video-EEG monitoring. Implications for health insurance systems in developing countries
TLDR
This pilot study may help to establish local policies that will warrant an adequate work-up for patients in developing countries and estimated the minimum time required for such a procedure and the impact of these variables upon the health insurance system. Expand
Intraneural perineuriomas: diagnostic value of magnetic resonance neurography
Intraneural perineurioma (IP) is an under‐recognized hypertrophic peripheral nerve tumor. It affects young patients involving frequently the sciatic nerve and its branches and presents with aExpand
[Argentine consensus on late-onset Pompe's disease].
TLDR
An update of the recommendations for the management of delayed-onset PD, taking as reference the guidelines from the Argentine Consensus for diagnosis, treatment and follow-up of PD published in 2013, with focus on the delayed-ONSet presentation of the disease. Expand
Screening of the intronic expansion in the C9 orf72 gene and the ATXN2 mutation in Argentine patients diagnosed with Amyotrophic Lateral Sclerosis (P2.056)
TLDR
The first 3 cases of ALS carriers of C9orf72 repeat expansion in Argentina and 3 intermediate expansions in the ATXN2 gene which confer an increased risk of developing ALS are reported. Expand