- Publications
- Influence
Claim Your Author Page
Ensure your research is discoverable on Semantic Scholar. Claiming your author page allows you to personalize the information displayed and manage publications.
- Michael Krieger, Andreas Roos, +31 authors Jan Senderek
- Brain : a journal of neurology
- 2013
Marinesco-Sjögren syndrome is a rare autosomal recessive multisystem disorder featuring cerebellar ataxia, early-onset cataracts, chronic myopathy, variable intellectual disability and delayed motor… (More)
- Akanchha Kesari, Laura Pirra, +5 authors Eric P. Hoffman
- Human mutation
- 2008
Becker muscular dystrophy (BMD) is a milder form of X-linked Duchenne muscular dystrophy (DMD). Here, we report a study of 75 patients with immunoblot and/or immunostaining findings of muscle biopsy… (More)
- Luciana León Cejas, Daniela Binaghi, +9 authors Ricardo C. Reisin
- Journal of the peripheral nervous system : JPNS
- 2018
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 a… (More)
- Laura Pirra, A. Dubrovsky, Marc Bitoun, Pascale Guicheney, Analía Taratuto
- Neuromuscular Disorders
- 2007
- Marcelo Rugiero, Mariela Bettini, +7 authors Claudio Gabriel Mazia
- 2012
- Laura Pirra
- 2012
- Alberto L. Dubrovsky, Ernesto Fulgenzi, +25 authors Ana Lía Taratuto
- Medicina
- 2018
Pompe's disease (PD) is an infrequent metabolic autosomic recessive disorder produced by the lack or deficiency of the acid alpha-glucosidase lysosomal enzyme in tissues of involved individuals.… (More)
- Claudia L Arberas, Florencia Aguirre, +6 authors Gustavo Seifer
- 2008
A method and apparatus for an apparatus and method for reduction of power consumption in OS that use flat segmentation memory model are described. In one embodiment, the method includes monitoring a… (More)
Resumen Introduccion Dentro de las enfermedades mitocondriales la oftalmoplejia externa cronica progresiva (CPEO) constituye una entidad clinica definida. Sus patrones de herencia son complejos,… (More)
- Belén Tillard, Elisa Cisneros, +27 authors Ricardo Reisin
- 2015
OBJECTIVE: To estimate the frequency of the expansion of the C9orf72 gene and the ATXN2 mutation in a cohort of 77 consecutive ALS patients from Argentina.
BACKGROUND: The intronic expansion in the… (More)