4.5 Review

Spinal muscular atrophy

Related references

Note: Only part of the references are listed.
Article Biochemistry & Molecular Biology

Intravenous scAAV9 delivery of a codon-optimized SMN1 sequence rescues SMA mice

Elisa Dominguez et al.

HUMAN MOLECULAR GENETICS (2011)

Article Cell Biology

Antisense Oligonucleotides Delivered to the Mouse CNS Ameliorate Symptoms of Severe Spinal Muscular Atrophy

Marco A. Passini et al.

SCIENCE TRANSLATIONAL MEDICINE (2011)

Editorial Material Genetics & Heredity

Seize the Day: Newborn Screening for SMA

Kathryn J. Swoboda

AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2010)

Article Biochemistry & Molecular Biology

Effects of 2,4-diaminoquinazoline derivatives on SMN expression and phenotype in a mouse model for spinal muscular atrophy

Matthew E. R. Butchbach et al.

HUMAN MOLECULAR GENETICS (2010)

Article Biochemistry & Molecular Biology

SAHA ameliorates the SMA phenotype in two mouse models for spinal muscular atrophy

Markus Riessland et al.

HUMAN MOLECULAR GENETICS (2010)

Article Biochemistry & Molecular Biology

Cardiac defects contribute to the pathology of spinal muscular atrophy models

Monir Shababi et al.

HUMAN MOLECULAR GENETICS (2010)

Review Biochemistry & Molecular Biology

Spinal muscular atrophy: mechanisms and therapeutic strategies

Christian L. Lorson et al.

HUMAN MOLECULAR GENETICS (2010)

Article Medicine, Research & Experimental

CNS-targeted gene therapy improves survival and motor function in a mouse model of spinal muscular atrophy

Marco A. Passini et al.

JOURNAL OF CLINICAL INVESTIGATION (2010)

Article Biotechnology & Applied Microbiology

Rescue of the spinal muscular atrophy phenotype in a mouse model by early postnatal delivery of SMN

Kevin D. Foust et al.

NATURE BIOTECHNOLOGY (2010)

Article Oncology

Bone loss in survival motor neuron (Smn(-/-) SMN2) genetic mouse model of spinal muscular atrophy

Srinivasan Shanmugarajan et al.

JOURNAL OF PATHOLOGY (2009)

Review Neurosciences

Multiple roles of HDAC inhibition in neurodegenerative conditions

De-Maw Chuang et al.

TRENDS IN NEUROSCIENCES (2009)

Review Clinical Neurology

Pathogenesis of proximal autosomal recessive spinal muscular atrophy

Goran Simic

ACTA NEUROPATHOLOGICA (2008)

Article Clinical Neurology

Sustained Improvement of Spinal Muscular Atrophy Mice Treated with Trichostatin A Plus Nutrition

Heather L. Narver et al.

ANNALS OF NEUROLOGY (2008)

Review Medicine, General & Internal

Spinal muscular atrophy

Mitchell R. Lunn et al.

LANCET (2008)

Article Clinical Neurology

Feeding problems and malnutrition in spinal muscular atrophy type II

Sonia Messina et al.

NEUROMUSCULAR DISORDERS (2008)

Article Genetics & Heredity

Congenital heart disease is a feature of severe infantile spinal muscular atrophy

S. Rudnik-Schoeneborn et al.

JOURNAL OF MEDICAL GENETICS (2008)

Article Pathology

Refined characterization of the expression and stability of the SMN gene products

Jeremie Vitte et al.

AMERICAN JOURNAL OF PATHOLOGY (2007)

Article Clinical Neurology

Consensus statement for Standard of Care in Spinal Muscular Atrophy

Ching H. Wang et al.

JOURNAL OF CHILD NEUROLOGY (2007)

Article Clinical Neurology

Animal models of spinal muscular atrophy

Aloicia Schmid et al.

JOURNAL OF CHILD NEUROLOGY (2007)

Article Medicine, Research & Experimental

Trichostatin A increases SMN expression and survival in a mouse model of spinal muscular atrophy

Amy M. Avila et al.

JOURNAL OF CLINICAL INVESTIGATION (2007)

Article Multidisciplinary Sciences

Axonal-SMN (a-SMN), a protein isoform of the survival motor neuron gene, is specifically involved in axonogenesis

Veronica Setola et al.

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2007)

Article Clinical Neurology

Multiplex ligation-dependent probe amplification improves diagnostics in spinal muscular atrophy

Eva L. Arkblad et al.

NEUROMUSCULAR DISORDERS (2006)

Article Genetics & Heredity

Novel aminoglycosides increase SMN levels in spinal muscular atrophy fibroblasts

Virginia B. Mattis et al.

HUMAN GENETICS (2006)

Article Clinical Neurology

Recovery from paralysis in adult rats using embryonic stem cells

Deepa M. Deshpande et al.

ANNALS OF NEUROLOGY (2006)

Article Biotechnology & Applied Microbiology

Correction of SMN2 pre-mRNA splicing by antisense U7 small nuclear RNAs

C Madocsai et al.

MOLECULAR THERAPY (2005)

Article Clinical Neurology

Natural history of denervation in SMA:: Relation to age, SMN2 copy number, and function

KJ Swoboda et al.

ANNALS OF NEUROLOGY (2005)

Article Clinical Neurology

Sleep disordered breathing in spinal muscular atrophy

U Mellies et al.

NEUROMUSCULAR DISORDERS (2004)

Article Clinical Neurology

Bone mineral density in a paediatric spinal muscular atrophy population

M Kinali et al.

NEUROPEDIATRICS (2004)

Article Multidisciplinary Sciences

Axonal growth of embryonic stem cell-derived motoneurons in vitro and in motoneuron-injured adult rats

JM Harper et al.

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2004)

Article Respiratory System

Long-term noninvasive ventilation in children and adolescents with neuromuscular disorders

U Mellies et al.

EUROPEAN RESPIRATORY JOURNAL (2003)

Article Clinical Neurology

Severe spinal muscular atrophy variant associated with congenital bone fractures

U Felderhoff-Mueser et al.

JOURNAL OF CHILD NEUROLOGY (2002)

Article Genetics & Heredity

Genetic risk assessment in carrier testing for spinal muscular atrophy

S Ogino et al.

AMERICAN JOURNAL OF MEDICAL GENETICS (2002)

Article Biochemistry & Molecular Biology

Modulation of survival motor neuron pre-mRNA splicing by inhibition of alternative 3′ splice site pairing

SR Lim et al.

JOURNAL OF BIOLOGICAL CHEMISTRY (2001)

Article Multidisciplinary Sciences

Treatment of spinal muscular atrophy by sodium butyrate

JG Chang et al.

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2001)