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Daniele Bottai et al.
BRAIN PATHOLOGY (2013)
At the “Junction” of Spinal Muscular Atrophy Pathogenesis: The Role of Neuromuscular Junction Dysfunction in SMA Disease Progression
B. Goulet et al.
CURRENT MOLECULAR MEDICINE (2013)
Severe SMA mice show organ impairment that cannot be rescued by therapy with the HDACi JNJ-26481585
Julia Schreml et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2013)
Temporal requirement for SMN in motoneuron development
Le T. Hao et al.
HUMAN MOLECULAR GENETICS (2013)
Synaptic defects in type I spinal muscular atrophy in human development
Rebeca Martinez-Hernandez et al.
JOURNAL OF PATHOLOGY (2013)
Intramuscular scAAV9-SMN Injection Mediates Widespread Gene Delivery to the Spinal Cord and Decreases Disease Severity in SMA Mice
Sofia Benkhelifa-Ziyyat et al.
MOLECULAR THERAPY (2013)
Glucose metabolism and pancreatic defects in spinal muscular atrophy
Melissa Bowerman et al.
ANNALS OF NEUROLOGY (2012)
Direct central nervous system delivery provides enhanced protection following vector mediated gene replacement in a severe model of Spinal Muscular Atrophy
Jacqueline J. Glascock et al.
BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS (2012)
Fasudil improves survival and promotes skeletal muscle development in a mouse model of spinal muscular atrophy
Melissa Bowerman et al.
BMC MEDICINE (2012)
An SMN-Dependent U12 Splicing Event Essential for Motor Circuit Function
Francesco Lotti et al.
CELL (2012)
SMN Is Required for Sensory-Motor Circuit Function in Drosophila
Wendy L. Imlach et al.
CELL (2012)
New Therapeutic Approaches to Spinal Muscular Atrophy
Aga Lewelt et al.
CURRENT NEUROLOGY AND NEUROSCIENCE REPORTS (2012)
A cell-autonomous defect in skeletal muscle satellite cells expressing low levels of survival of motor neuron protein
Monica Hayhurst et al.
DEVELOPMENTAL BIOLOGY (2012)
Pan-ethnic carrier screening and prenatal diagnosis for spinal muscular atrophy: clinical laboratory analysis of > 72 400 specimens
Elaine A. Sugarman et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2012)
Abnormal fatty acid metabolism in spinal muscular atrophy may predispose to perioperative risks
Zarazuela Zolkipli et al.
EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY (2012)
SMN-inducing compounds for the treatment of spinal muscular atrophy
Monique A. Lorson et al.
FUTURE MEDICINAL CHEMISTRY (2012)
Therapeutic strategies for the treatment of spinal muscular atrophy
Jonathan J. Cherry et al.
FUTURE MEDICINAL CHEMISTRY (2012)
Decreasing Disease Severity in Symptomatic, Smn-/-; SMN2+/+, Spinal Muscular Atrophy Mice Following scAAV9-SMN Delivery
Jacqueline J. Glascock et al.
HUMAN GENE THERAPY (2012)
A single administration of morpholino antisense oligomer rescues spinal muscular atrophy in mouse
Paul N. Porensky et al.
HUMAN MOLECULAR GENETICS (2012)
Severe neuromuscular denervation of clinically relevant muscles in a mouse model of spinal muscular atrophy
Karen K. Y. Ling et al.
HUMAN MOLECULAR GENETICS (2012)
Evaluation of fetal nuchal translucency in 98 pregnancies at risk for severe spinal muscular atrophy: possible relevance of the SMN2 copy number
Juan Parra et al.
JOURNAL OF MATERNAL-FETAL & NEONATAL MEDICINE (2012)
Partial restoration of cardio-vascular defects in a rescued severe model of spinal muscular atrophy
Monir Shababi et al.
JOURNAL OF MOLECULAR AND CELLULAR CARDIOLOGY (2012)
Motor Neuron Rescue in Spinal Muscular Atrophy Mice Demonstrates That Sensory-Motor Defects Are a Consequence, Not a Cause, of Motor Neuron Dysfunction
Rocky G. Gogliotti et al.
JOURNAL OF NEUROSCIENCE (2012)
Survival Motor Neuron Protein in Motor Neurons Determines Synaptic Integrity in Spinal Muscular Atrophy
Tara L. Martinez et al.
JOURNAL OF NEUROSCIENCE (2012)
Bifunctional RNAs Targeting the Intronic Splicing Silencer N1 Increase SMN Levels and Reduce Disease Severity in an Animal Model of Spinal Muscular Atrophy
Erkan Y. Osman et al.
MOLECULAR THERAPY (2012)
A critical smn threshold in mice dictates onset of an intermediate spinal muscular atrophy phenotype associated with a distinct neuromuscular junction pathology
Melissa Bowerman et al.
NEUROMUSCULAR DISORDERS (2012)
Density, calibre and ramification of muscle capillaries are altered in a mouse model of severe spinal muscular atrophy
E. Somers et al.
NEUROMUSCULAR DISORDERS (2012)
Perfluorodecalin lavage of a longstanding lung atelectasis in a child with spinal muscle atrophy
Thore Henrichsen et al.
PEDIATRIC PULMONOLOGY (2012)
New insights into the pathogenesis of spinal muscular atrophy
Yasushi Ito et al.
BRAIN & DEVELOPMENT (2011)
Muscles in a mouse model of spinal muscular atrophy show profound defects in neuromuscular development even in the absence of failure in neuromuscular transmission or loss of motor neurons
Young Il Lee et al.
DEVELOPMENTAL BIOLOGY (2011)
Intravenous scAAV9 delivery of a codon-optimized SMN1 sequence rescues SMA mice
Elisa Dominguez et al.
HUMAN MOLECULAR GENETICS (2011)
Increased IGF-1 in muscle modulates the phenotype of severe SMA mice
Marta Bosch-Marce et al.
HUMAN MOLECULAR GENETICS (2011)
Reversible molecular pathology of skeletal muscle in spinal muscular atrophy
Chantal A. Mutsaers et al.
HUMAN MOLECULAR GENETICS (2011)
Temporal requirement for high SMN expression in SMA mice
Thanh T. Le et al.
HUMAN MOLECULAR GENETICS (2011)
Postsymptomatic restoration of SMN rescues the disease phenotype in a mouse model of severe spinal muscular atrophy
Cathleen M. Lutz et al.
JOURNAL OF CLINICAL INVESTIGATION (2011)
Prolactin increases SMN expression and survival in a mouse model of severe spinal muscular atrophy via the STAT5 pathway
Faraz Farooq et al.
JOURNAL OF CLINICAL INVESTIGATION (2011)
Peripheral SMN restoration is essential for long-term rescue of a severe spinal muscular atrophy mouse model
Yimin Hua et al.
NATURE (2011)
Early Functional Impairment of Sensory-Motor Connectivity in a Mouse Model of Spinal Muscular Atrophy
George Z. Mentis et al.
NEURON (2011)
SMN Requirement for Synaptic Vesicle, Active Zone and Microtubule Postnatal Organization in Motor Nerve Terminals
Laura Torres-Benito et al.
PLOS ONE (2011)
Antisense Oligonucleotides Delivered to the Mouse CNS Ameliorate Symptoms of Severe Spinal Muscular Atrophy
Marco A. Passini et al.
SCIENCE TRANSLATIONAL MEDICINE (2011)
Effect of diet on the survival and phenotype of a mouse model for spinal muscular atrophy
Matthew E. R. Butchbach et al.
BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS (2010)
Spinal muscular atrophy type I combined with atrial septal defect in three sibs
P. Møller et al.
CLINICAL GENETICS (2010)
Treatment and complications in flaccid neuromuscular scoliosis (Duchenne muscular dystrophy and spinal muscular atrophy) with posterior-only pedicle screw instrumentation
Hitesh N. Modi et al.
EUROPEAN SPINE JOURNAL (2010)
Antisense correction of SMN2 splicing in the CNS rescues necrosis in a type III SMA mouse model
Yimin Hua et al.
GENES & DEVELOPMENT (2010)
Pre-symptomatic development of lower motor neuron connectivity in a mouse model of severe spinal muscular atrophy
Lyndsay M. Murray et al.
HUMAN MOLECULAR GENETICS (2010)
SAHA ameliorates the SMA phenotype in two mouse models for spinal muscular atrophy
Markus Riessland et al.
HUMAN MOLECULAR GENETICS (2010)
SMN deficiency disrupts brain development in a mouse model of severe spinal muscular atrophy
Thomas M. Wishart et al.
HUMAN MOLECULAR GENETICS (2010)
Arrhythmia and cardiac defects are a feature of spinal muscular atrophy model mice
Christopher R. Heier et al.
HUMAN MOLECULAR GENETICS (2010)
Cardiac defects contribute to the pathology of spinal muscular atrophy models
Monir Shababi et al.
HUMAN MOLECULAR GENETICS (2010)
Early heart failure in the SMNΔ7 model of spinal muscular atrophy and correction by postnatal scAAV9-SMN delivery
Adam K. Bevan et al.
HUMAN MOLECULAR GENETICS (2010)
Rho-kinase inactivation prolongs survival of an intermediate SMA mouse model
Melissa Bowerman et al.
HUMAN MOLECULAR GENETICS (2010)
Spinal muscular atrophy: mechanisms and therapeutic strategies
Christian L. Lorson et al.
HUMAN MOLECULAR GENETICS (2010)
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)
Altered Intracellular Ca2+ Homeostasis in Nerve Terminals of Severe Spinal Muscular Atrophy Mice
Rocio Ruiz et al.
JOURNAL OF NEUROSCIENCE (2010)
Reduced Survival of Motor Neuron (SMN) Protein in Motor Neuronal Progenitors Functions Cell Autonomously to Cause Spinal Muscular Atrophy in Model Mice Expressing the Human Centromeric (SMN2) Gene
Gyu-Hwan Park et al.
JOURNAL OF NEUROSCIENCE (2010)
Neurodevelopmental Consequences of Smn Depletion in a Mouse Model of Spinal Muscular Atrophy
Hong Liu et al.
JOURNAL OF NEUROSCIENCE RESEARCH (2010)
DIGITAL NECROSES AND VASCULAR THROMBOSIS IN SEVERE SPINAL MUSCULAR ATROPHY
Sabine Rudnik-Schoeneborn et al.
MUSCLE & NERVE (2010)
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)
Review: Neuromuscular synaptic vulnerability in motor neurone disease: amyotrophic lateral sclerosis and spinal muscular atrophy
L. M. Murray et al.
NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY (2010)
Synaptic Defects in the Spinal and Neuromuscular Circuitry in a Mouse Model of Spinal Muscular Atrophy
Karen K. Y. Ling et al.
PLOS ONE (2010)
An antisense microwalk reveals critical role of an intronic position linked to a unique long-distance interaction in pre-mRNA splicing
Natalia N. Singh et al.
RNA (2010)
Systemic Delivery of scAAV9 Expressing SMN Prolongs Survival in a Model of Spinal Muscular Atrophy
Chiara F. Valori et al.
SCIENCE TRANSLATIONAL MEDICINE (2010)
Energy metabolism in heart failure and remodelling
Joanne S. Ingwall
CARDIOVASCULAR RESEARCH (2009)
Genotype-phenotype studies in infantile spinal muscular atrophy (SMA) type I in Germany: implications for clinical trials and genetic counselling
S. Rudnik-Schoeneborn et al.
CLINICAL GENETICS (2009)
Emerging treatment options for spinal muscular atrophy
Barrington G. Burnett et al.
CURRENT TREATMENT OPTIONS IN NEUROLOGY (2009)
Delivery of recombinant follistatin lessens disease severity in a mouse model of spinal muscular atrophy
Ferrill F. Rose et al.
HUMAN MOLECULAR GENETICS (2009)
The Developmental Pattern of Myotubes in Spinal Muscular Atrophy Indicates Prenatal Delay of Muscle Maturation
Rebeca Martinez-Hernandez et al.
JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY (2009)
Impaired Synaptic Vesicle Release and Immaturity of Neuromuscular Junctions in Spinal Muscular Atrophy Mice
Lingling Kong et al.
JOURNAL OF NEUROSCIENCE (2009)
Vascular Perfusion Abnormalities in Infants with Spinal Muscular Atrophy
Alexandra Prufer de Queiroz Campos Araujo et al.
JOURNAL OF PEDIATRICS (2009)
An autopsy case of spinal muscular atrophy type III (Kugelberg-Welander disease)
Satoshi Kuru et al.
NEUROPATHOLOGY (2009)
A short antisense oligonucleotide masking a unique intronic motif prevents skipping of a critical exon in spinal muscular atrophy
Natalia N. Singh et al.
RNA BIOLOGY (2009)
Congenital heart defects in spinal muscular atrophy type I: A clinical report of two siblings and a review of the literature
Leonie A. Menke et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2008)
Neuronal SMN expression corrects spinal muscular atrophy in severe SMA mice while muscle-specific SMN expression has no phenotypic effect
Tatiana O. Gavrilina et al.
HUMAN MOLECULAR GENETICS (2008)
Reduced SMN protein impairs maturation of the neuromuscular junctions in mouse models of spinal muscular atrophy
Shingo Kariya et al.
HUMAN MOLECULAR GENETICS (2008)
Embryonic motor axon development in the severe SMA mouse
Vicki L. McGovern et al.
HUMAN MOLECULAR GENETICS (2008)
Selective vulnerability of motor neurons and dissociation of pre- and post-synaptic pathology at the neuromuscular junction in mouse models of spinal muscular atrophy
Lyndsay M. Murray et al.
HUMAN MOLECULAR GENETICS (2008)
Congenital heart disease is a feature of severe infantile spinal muscular atrophy
S. Rudnik-Schoeneborn et al.
JOURNAL OF MEDICAL GENETICS (2008)
The changing natural history of spinal muscular atrophy type 1
M. Oskoui et al.
NEUROLOGY (2007)
Defective Ca2+ channel clustering in axon terminals disturbs excitability in motoneurons in spinal muscular atrophy
Sibylle Jablonka et al.
JOURNAL OF CELL BIOLOGY (2007)
Motor neuron degeneration in a 20-week male fetus: Spinal muscular atrophy type 0
Harvey B. Sarnat et al.
CANADIAN JOURNAL OF NEUROLOGICAL SCIENCES (2007)
Long-term survival in Werdnig-Hoffmann disease
John R. Bach et al.
AMERICAN JOURNAL OF PHYSICAL MEDICINE & REHABILITATION (2007)
Medical considerations of long-term survival of Werdnig-Hoffmann disease
John R. Bach
AMERICAN JOURNAL OF PHYSICAL MEDICINE & REHABILITATION (2007)
Mutations of the LMNA gene can mimic autosomal dominant proximal spinal muscular atrophy
Sabine Rudnik-Schoeneborn et al.
NEUROGENETICS (2007)
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)
Neonatal spinal muscular atrophy type I with bone fractures and heart defect
Eve Vaidla et al.
JOURNAL OF CHILD NEUROLOGY (2007)
Distinct and overlapping alterations in motor and sensory neurons in a mouse model of spinal muscular atrophy
S Jablonka et al.
HUMAN MOLECULAR GENETICS (2006)
An infant with hypoplastic left heart syndrome and spinal muscular atrophy
AL Cook et al.
CARDIOLOGY IN THE YOUNG (2006)
Autonomic dysfunction in cases of spinal muscular atrophy type 1 with long survival
Y Hachiya et al.
BRAIN & DEVELOPMENT (2005)
Reduced U snRNP assembly causes motor axon degeneration in an animal model for spinal muscular atrophy
C Winkler et al.
GENES & DEVELOPMENT (2005)
SMNΔ7, the major product of the centromeric survival motor neuron (SMN2) gene, extends survival in mice with spinal muscular atrophy and associates with full-length SMN
TT Le et al.
HUMAN MOLECULAR GENETICS (2005)
Implication of fetal SMN2 expression in type ISMA pathogenesis:: Protection or pathological gain of function?
C Soler-Botija et al.
JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY (2005)
Hypercalcaemia in infancy; a presenting feature of spinal muscular atrophy
K Khawaja et al.
ARCHIVES OF DISEASE IN CHILDHOOD (2004)
Reduced expression of nicotinic AChRs in myotubes from spinal muscular atrophy I patients
AS Arnold et al.
LABORATORY INVESTIGATION (2004)
Deletion of murine Smn Exon 7 directed to liver leads to severe defect of liver development associated with iron overload
JM Vitte et al.
AMERICAN JOURNAL OF PATHOLOGY (2004)
Long-term observations of patients with infantile spinal muscular atrophy with respiratory distress type 1 (SMARD1)
S Rudnik-Schöneborn et al.
NEUROPEDIATRICS (2004)
Spinal muscle atrophy type 1 (Werdnig-Hoffman disease) with complex cardiac malformation
W El-Matary et al.
EUROPEAN JOURNAL OF PEDIATRICS (2004)
Thalamic lesions in a long-surviving child with spinal muscular atrophy type I: MRI and EEG findings
Y Ito et al.
BRAIN & DEVELOPMENT (2004)
Neuromuscular defects in a Drosophila survival motor neuron gene mutant
YB Chan et al.
HUMAN MOLECULAR GENETICS (2003)
Classical infantile spinal muscular atrophy with SMN deficiency causes sensory neuronopathy
S Rudnik-Schöneborn et al.
NEUROLOGY (2003)
Neuronal death is enhanced and begins during foetal development in type I spinal muscular atrophy spinal cord
C Soler-Botija et al.
BRAIN (2002)
Survival motor neuron (SMN) protein: role in neurite outgrowth and neuromuscular maturation during neuronal differentiation and development
L Fan et al.
HUMAN MOLECULAR GENETICS (2002)
Neurofilament accumulation at the motor endplate and lack of axonal sprouting in a spinal muscular atrophy mouse model
C Cifuentes-Diaz et al.
HUMAN MOLECULAR GENETICS (2002)
Intelligence and cognitive function in children and adolescents with spinal muscular atrophy
A von Gontard et al.
NEUROMUSCULAR DISORDERS (2002)
Quantitative analyses of SMN1 and SMN2 based on real-time LightCycler PCR:: Fast and highly reliable carrier testing and prediction of severity of spinal muscular atrophy
M Feldkötter et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2002)
Molecular analysis of spinal muscular atrophy and modification of the phenotype by SMN2
MD Mailman et al.
GENETICS IN MEDICINE (2002)
Deletion of murine SMN exon 7 directed to skeletal muscle leads to severe muscular dystrophy
C Cifuentes-Diaz et al.
JOURNAL OF CELL BIOLOGY (2001)
SMN gene duplication and the emergence of the SMN2 gene occurred in distinct hominids:: SMN2 is unique to Homo sapiens
CF Rochette et al.
HUMAN GENETICS (2001)
Reduced survival motor neuron (Smn) gene dose in mice leads to motor neuron degeneration:: an animal model for spinal muscular atrophy type III
S Jablonka et al.
HUMAN MOLECULAR GENETICS (2000)
The human centromeric survival motor neuron gene (SMN2) rescues embryonic lethality in Smn-/- mice and results in a mouse with spinal muscular atrophy
UR Monani et al.
HUMAN MOLECULAR GENETICS (2000)
An exonic enhancer is required for inclusion of an essential exon in the SMA-determining gene SMN
CL Lorson et al.
HUMAN MOLECULAR GENETICS (2000)
Subcellular localization and axonal transport of the survival motor neuron (SMN) protein in the developing rat spinal cord
S Pagliardini et al.
HUMAN MOLECULAR GENETICS (2000)
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