相关参考文献
注意：仅列出部分参考文献，下载原文获取全部文献信息。Spinal Muscular Atrophy: Development and Implementation of Potential Treatments
W. David Arnold et al.
ANNALS OF NEUROLOGY (2013)
Plastin 3 ameliorates spinal muscular atrophy via delayed axon pruning and improves neuromuscular junction functionality
Bastian Ackermann et al.
HUMAN MOLECULAR GENETICS (2013)
Synaptic defects in type I spinal muscular atrophy in human development
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CELL (2012)
SMN Is Required for Sensory-Motor Circuit Function in Drosophila
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CELL (2012)
Pan-ethnic carrier screening and prenatal diagnosis for spinal muscular atrophy: clinical laboratory analysis of > 72 400 specimens
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EUROPEAN JOURNAL OF HUMAN GENETICS (2012)
Spinal muscular atrophy pathogenic mutations impair the axonogenic properties of axonal-survival of motor neuron
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JOURNAL OF NEUROCHEMISTRY (2012)
Candidate Proteins, Metabolites and Transcripts in the Biomarkers for Spinal Muscular Atrophy (BforSMA) Clinical Study
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Evaluation of SMN Protein, Transcript, and Copy Number in the Biomarkers for Spinal Muscular Atrophy (BforSMA) Clinical Study
Thomas O. Crawford et al.
PLOS ONE (2012)
Observational Study of Spinal Muscular Atrophy Type 2 and 3 Functional Outcomes Over 1 Year
Petra Kaufmann et al.
ARCHIVES OF NEUROLOGY (2011)
INSIGHTS INTO GENOTYPE-PHENOTYPE CORRELATIONS IN SPINAL MUSCULAR ATROPHY: A RETROSPECTIVE STUDY OF 103 PATIENTS
Florence Petit et al.
MUSCLE & NERVE (2011)
Early Functional Impairment of Sensory-Motor Connectivity in a Mouse Model of Spinal Muscular Atrophy
George Z. Mentis et al.
NEURON (2011)
Validation of the Children's Hospital of Philadelphia Infant Test of Neuromuscular Disorders (CHOP INTEND)
Allan M. Glanzman et al.
PEDIATRIC PHYSICAL THERAPY (2011)
Association of Plastin 3 Expression With Disease Severity in Spinal Muscular Atrophy Only in Postpubertal Females
George Stratigopoulos et al.
ARCHIVES OF NEUROLOGY (2010)
Spinal Muscular Atrophy: New and Emerging Insights from Model Mice
Gyu-Hwan Park et al.
CURRENT NEUROLOGY AND NEUROSCIENCE REPORTS (2010)
The c.859G > C variant in the SMN2 gene is associated with types II and III SMA and originates from a common ancestor
S. Bernal et al.
JOURNAL OF MEDICAL GENETICS (2010)
Six-Minute Walk Test demonstrates motor fatigue in spinal muscular atrophy
J. Montes et al.
NEUROLOGY (2010)
The Children's Hospital of Philadelphia Infant Test of Neuromuscular Disorders (CHOP INTEND): Test development and reliability
A. M. Glanzman et al.
NEUROMUSCULAR DISORDERS (2010)
A Positive Modifier of Spinal Muscular Atrophy in the SMN2 Gene
Thomas W. Prior et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2009)
Genotype-phenotype studies in infantile spinal muscular atrophy (SMA) type I in Germany: implications for clinical trials and genetic counselling
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CLINICAL GENETICS (2009)
Impaired Synaptic Vesicle Release and Immaturity of Neuromuscular Junctions in Spinal Muscular Atrophy Mice
Lingling Kong et al.
JOURNAL OF NEUROSCIENCE (2009)
Reduced SMN protein impairs maturation of the neuromuscular junctions in mouse models of spinal muscular atrophy
Shingo Kariya et al.
HUMAN MOLECULAR GENETICS (2008)
Plastin 3 is a protective modifier of autosomal recessive spinal muscular atrophy
Gabriela E. Oprea et al.
SCIENCE (2008)
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)
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)
Reduced U snRNP assembly causes motor axon degeneration in an animal model for spinal muscular atrophy
C Winkler et al.
GENES & DEVELOPMENT (2005)
Spinal muscular atrophy:: a delayed development hypothesis
I Hausmanowa-Petrusewicz et al.
NEUROREPORT (2005)
Natural history of denervation in SMA:: Relation to age, SMN2 copy number, and function
KJ Swoboda et al.
ANNALS OF NEUROLOGY (2005)
Type I spinal muscular atrophy can mimic sensory-motor axonal neuropathy
E Anagnostou et al.
JOURNAL OF CHILD NEUROLOGY (2005)
Classical infantile spinal muscular atrophy with SMN deficiency causes sensory neuronopathy
S Rudnik-Schöneborn et al.
NEUROLOGY (2003)
Essential role for the SMN complex in the specificity of snRNP assembly
L Pellizzoni et al.
SCIENCE (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)
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)
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