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Source: Revista de Neurologia

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Total 67 results found since Jan 2013.

Isolated myopathy due to the m.8344A > G variant is not unusual and may turn into multisystem disease over time.
[Isolated myopathy due to the m.8344A>G variant is not unusual and may turn into multisystem disease over time]. Rev Neurol. 2018 Oct 16;67(8):324 Authors: Finsterer J, Maeztu C PMID: 30289158 [PubMed - in process]
Source: Revista de Neurologia - October 6, 2018 Category: Neurology Authors: Finsterer J, Maeztu C Tags: Rev Neurol Source Type: research

TK2 mutations and late onset myopathy: first description in a Mexican patient.
PMID: 30183064 [PubMed - in process]
Source: Revista de Neurologia - September 6, 2018 Category: Neurology Authors: Castro-Macias JI, Quijas-Aldana I, Diaz-Campos MO, Santos-Vazquez G, Normendez-Martinez M, San-Juan D, Anschel DJ Tags: Rev Neurol Source Type: research

Isolated girdle weakness: expansion of the phenotypic spectrum of the MERRF 8344A > G mutation of mitochondrial DNA.
CONCLUSIONS: The 8344A>G mutation of mitochondrial DNA can be associated with clinical signs and symptoms of adult-onset girdle weakness, and must therefore be included as part of its differential diagnosis. PMID: 29645070 [PubMed - in process]
Source: Revista de Neurologia - April 14, 2018 Category: Neurology Authors: Erdocia-Goni A, Alonso-Jimenez A, Ramon-Carbajo C, Garcia-Arumi E, Casquero P, Gallardo E, Diaz-Manera J Tags: Rev Neurol Source Type: research

A new phenotype of infantile-onset Pompe disease.
CONCLUSIONS: Both cases illustrate the new phenotype of infantile-onset Pompe disease treated with ERT. Despite the motor limitations and respiratory involvement presented by the patients, both survival and autonomy have increased. PMID: 29435968 [PubMed - in process]
Source: Revista de Neurologia - February 15, 2018 Category: Neurology Authors: Nascimento A, Villalobos-Pinto E Tags: Rev Neurol Source Type: research

Variability in the clinical presentation of Pompe disease in infancy: two case reports and response to treatment with human recombinant enzyme.
CONCLUSION. GAA is the only authorized option for Pompe disease treatment; the effects observed are similar to the ones described in the literature, with excellent outcome in the hypertrophic cardiomyopathy but less effective in the skeletal muscle. PMID: 25418145 [PubMed - in process]
Source: Revista de Neurologia - November 26, 2014 Category: Neurology Authors: Moreno-Medinilla E, Berzosa-Lopez R, Mora-Ramirez MD, Blasco-Alonso J, Martinez-Anton J Tags: Rev Neurol Source Type: research

Two new mutations in the gene that codes for acid alpha-glucosidase in an adolescent with late-onset Pompe disease.
CONCLUSION. A molecular genetic study is mandatory in patients suspected of having this disease. PMID: 24008937 [PubMed - in process]
Source: Revista de Neurologia - September 7, 2013 Category: Neurology Authors: Guevara-Campos J, Romeo-Villarroel MA, Gonzalez-De Guevara L, Escobar V Tags: Rev Neurol Source Type: research

Audiovisual stimulation in children with severely limited motor function: does it improve their quality of life?.
CONCLUSIONS. Audiovisual stimulation can be used to enhance the quality of life of children with severely limited mobility. PMID: 23881614 [PubMed - in process]
Source: Revista de Neurologia - July 29, 2013 Category: Neurology Authors: Barja S, Munoz C, Cancino N, Nunez A, Ubilla M, Sylleros R, Riveros R, Rosas R Tags: Rev Neurol Source Type: research