Literature DB >> 17433677

The Hammersmith functional score correlates with the SMN2 copy number: a multicentric study.

F D Tiziano1, E Bertini, S Messina, C Angelozzi, M Pane, A D'Amico, P Alfieri, S Fiori, R Battini, A Berardinelli, P Boffi, C Bruno, C Cini, C Minetti, T Mongini, L Morandi, S Orcesi, M Pelliccioni, A Pini, M Villanova, G Vita, M Locatelli, E Mercuri, C Brahe.   

Abstract

Previous studies showed that SMN2 copy number correlates inversely with the disease severity. Our aim was to evaluate SMN2 copy numbers and the Hammersmith functional motor scale in 87 patients with SMA II in order to establish whether, within SMAII, the number of copies correlates with the severity of functional impairment. Our results showed a relative variability of functional scores, but a significant correlation between the number of SMN2 genes and the level of function.

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Year:  2007        PMID： 17433677     DOI： 10.1016/j.nmd.2007.02.006

Source DB:  PubMed          Journal:  Neuromuscul Disord        ISSN： 0960-8966            Impact factor:   4.296


  10 in total

1.  SMN transcript levels in leukocytes of SMA patients determined by absolute real-time PCR.

Authors:  Francesco Danilo Tiziano; Anna Maria Pinto; Stefania Fiori; Rosa Lomastro; Sonia Messina; Claudio Bruno; Antonella Pini; Marika Pane; Adele D'Amico; Alessandro Ghezzo; Enrico Bertini; Eugenio Mercuri; Giovanni Neri; Christina Brahe
Journal:  Eur J Hum Genet       Date:  2010-01       Impact factor: 4.246

2.  Clinical and molecular cross-sectional study of a cohort of adult type III spinal muscular atrophy patients: clues from a biomarker study.

Authors:  Francesco D Tiziano; Rosa Lomastro; Lorena Di Pietro; Maria Barbara Pasanisi; Stefania Fiori; Carla Angelozzi; Emanuela Abiusi; Corrado Angelini; Gianni Sorarù; Alessandra Gaiani; Tiziana Mongini; Liliana Vercelli; Gessica Vasco; Giuseppe Vita; Gian Luca Vita; Sonia Messina; Luisa Politano; Luigia Passamano; Grazia Di Gregorio; Cristina Montomoli; Chiara Orsi; Angela Campanella; Renato Mantegazza; Lucia Morandi
Journal:  Eur J Hum Genet       Date:  2012-10-17       Impact factor: 4.246

3.  Adiposity is increased among high-functioning, non-ambulatory patients with spinal muscular atrophy.

Authors:  Douglas M Sproule; Jacqueline Montes; Sally Dunaway; Megan Montgomery; Vanessa Battista; Dorcas Koenigsberger; Bill Martens; Wei Shen; Mark Punyanitya; Maryjane Benton; Hailly Butler; Jayson Caracciolo; Eugenio Mercuri; Richard Finkel; Basil Darras; Darryl C De Vivo; Petra Kaufmann
Journal:  Neuromuscul Disord       Date:  2010-06-17       Impact factor: 4.296

4.  Protective effects of butyrate-based compounds on a mouse model for spinal muscular atrophy.

Authors:  Matthew E R Butchbach; Casey J Lumpkin; Ashlee W Harris; Luciano Saieva; Jonathan D Edwards; Eileen Workman; Louise R Simard; Livio Pellizzoni; Arthur H M Burghes
Journal:  Exp Neurol       Date:  2016-02-15       Impact factor: 5.330

Review 5.  Mechanistic principles of antisense targets for the treatment of spinal muscular atrophy.

Authors:  Natalia N Singh; Brian M Lee; Christine J DiDonato; Ravindra N Singh
Journal:  Future Med Chem       Date:  2015-09-18       Impact factor: 3.808

Review 6.  Biomarkers in rare disorders: the experience with spinal muscular atrophy.

Authors:  Francesco D Tiziano; Giovanni Neri; Christina Brahe
Journal:  Int J Mol Sci       Date:  2010-12-24       Impact factor: 5.923

7.  Systems biology investigation of cAMP modulation to increase SMN levels for the treatment of spinal muscular atrophy.

Authors:  Sean G Mack; Daniel J Cook; Prasad Dhurjati; Matthew E R Butchbach
Journal:  PLoS One       Date:  2014-12-16       Impact factor: 3.240

8.  SMN1 and SMN2 copy numbers in cell lines derived from patients with spinal muscular atrophy as measured by array digital PCR.

Authors:  Deborah L Stabley; Ashlee W Harris; Jennifer Holbrook; Nicholas J Chubbs; Kevin W Lozo; Thomas O Crawford; Kathryn J Swoboda; Vicky L Funanage; Wenlan Wang; William Mackenzie; Mena Scavina; Katia Sol-Church; Matthew E R Butchbach
Journal:  Mol Genet Genomic Med       Date:  2015-03-21       Impact factor: 2.183

9.  Transcriptome profiling of spinal muscular atrophy motor neurons derived from mouse embryonic stem cells.

Authors:  Miho Maeda; Ashlee W Harris; Brewster F Kingham; Casey J Lumpkin; Lynn M Opdenaker; Suzanne M McCahan; Wenlan Wang; Matthew E R Butchbach
Journal:  PLoS One       Date:  2014-09-05       Impact factor: 3.240

Review 10.  Copy Number Variations in the Survival Motor Neuron Genes: Implications for Spinal Muscular Atrophy and Other Neurodegenerative Diseases.

Authors:  Matthew E R Butchbach
Journal:  Front Mol Biosci       Date:  2016-03-10
  10 in total

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