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Tuhin Srivastava et al.
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Jill Heemskerk et al.
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Richard S. Finkel et al.
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Thomas O. Crawford et al.
PLOS ONE (2012)
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Dione T. Kobayashi et al.
PLOS ONE (2012)
Plasma Epidermal Growth Factor Levels Predict Cognitive Decline in Parkinson Disease
Alice S. Chen-Plotkin et al.
ANNALS OF NEUROLOGY (2011)
Observational Study of Spinal Muscular Atrophy Type 2 and 3 Functional Outcomes Over 1 Year
Petra Kaufmann et al.
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ETS-domain transcription factor Elk-1 mediates neuronal survival: SMN as a potential target
Ozlem Demir et al.
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Santos J. Franco et al.
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Monir Shababi et al.
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Lisa Hubers et al.
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Increased IGF-1 in muscle modulates the phenotype of severe SMA mice
Marta Bosch-Marce et al.
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Reversible molecular pathology of skeletal muscle in spinal muscular atrophy
Chantal A. Mutsaers et al.
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The spinal muscular atrophy disease protein SMN is linked to the rho-kinase pathway via profilin
Anna Noelle et al.
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Francesco D. Tiziano et al.
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Muscle Volume Estimation by Magnetic Resonance Imaging in Spinal Muscular Atrophy
Douglas M. Sproule et al.
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Prolactin increases SMN expression and survival in a mouse model of severe spinal muscular atrophy via the STAT5 pathway
Faraz Farooq et al.
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Patricia Fernandez-Puente et al.
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Yimin Hua et al.
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Nina R. Makhortova et al.
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SPP1 genotype is a determinant of disease severity in Duchenne muscular dystrophy
E. Pegoraro et al.
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Utility of Survival Motor Neuron ELISA for Spinal Muscular Atrophy Clinical and Preclinical Analyses
Dione T. Kobayashi et al.
PLOS ONE (2011)
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John T. Kissel et al.
PLOS ONE (2011)
Amyotrophic Lateral Sclerosis Multiprotein Biomarkers in Peripheral Blood Mononuclear Cells
Giovanni Nardo et al.
PLOS ONE (2011)
T-cadherin (Cdh13) in association with pancreatic β-cell granules contributes to second phase insulin secretion
Bjoern Tyrberg et al.
ISLETS (2011)
Proteomics of skeletal muscle differentiation, neuromuscular disorders and fiber aging
Kay Ohlendieck
EXPERT REVIEW OF PROTEOMICS (2010)
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Seward B. Rutkove et al.
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Aga Lewelt et al.
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Douglas M. Sproule et al.
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SMA CARNI-VAL Trial Part I: Double-Blind, Randomized, Placebo-Controlled Trial of L-Carnitine and Valproic Acid in Spinal Muscular Atrophy
Kathryn J. Swoboda et al.
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Dipeptidyl Peptidase-4 Inhibitors for the Treatment of Type 2 Diabetes Mellitus
Joshua J. Neumiller et al.
PHARMACOTHERAPY (2010)
Conserved Genes Act as Modifiers of Invertebrate SMN Loss of Function Defects
Maria Dimitriadi et al.
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Holly D. Soares et al.
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Weighted gene co-expression network analysis of the peripheral blood from Amyotrophic Lateral Sclerosis patients
Christiaan G. J. Saris et al.
BMC GENOMICS (2009)
Different atrophy-hypertrophy transcription pathways in muscles affected by severe and mild spinal muscular atrophy
Caterina Millino et al.
BMC MEDICINE (2009)
Bone loss in survival motor neuron (Smn(-/-) SMN2) genetic mouse model of spinal muscular atrophy
Srinivasan Shanmugarajan et al.
JOURNAL OF PATHOLOGY (2009)
APPLYING PROTEOMICS TO THE DIAGNOSIS AND TREATMENT OF ALS AND RELATED DISEASES
Robert Bowser et al.
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The PedsQL™ in pediatric patients with Spinal Muscular Atrophy: Feasibility, reliability, and validity of the Pediatric Quality of Life Inventory™ Generic Core Scales and Neuromuscular Module
Susan T. Iannaccone et al.
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Phase II Open Label Study of Valproic Acid in Spinal Muscular Atrophy
Kathryn J. Swoboda et al.
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The insulin paradox: aging, proteotoxicity and neurodegeneration
Ehud Cohen et al.
NATURE REVIEWS NEUROSCIENCE (2008)
Daily salbutamol in young patients with SMA type II
Marika Pane et al.
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Howard Chia-Hao Chang et al.
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Decreased serum endoglin level in patients with amyotrophic lateral sclerosis: a preliminary report
J. Ilzecka
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An expanded version of the Hammersmith Functional Motor Scale for SMA II and III patients
Jessica M. O'Hagen et al.
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Congenital bone fractures in spinal muscular atrophy: Functional role for SMN protein in bone remodeling
Srinivasan Shanmugarajan et al.
JOURNAL OF CHILD NEUROLOGY (2007)
A modified Hammersmith functional motor scale for use in multi-center research on spinal muscular atrophy
Kristin J. Krosschell et al.
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The gross motor function measure™ is a valid and sensitive outcome measure for spinal muscular atrophy
Leslie Nelson et al.
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Plasma and cerebrospinal fluid-based protein biomarkers for motor neuron disease
Christi Kolarcik et al.
MOLECULAR DIAGNOSIS & THERAPY (2006)
Bone morphogenetic protein signalling and vertebrate nervous system development
AM Liu et al.
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Genetics of leptin and obesity: A HuGE review
V Paracchini et al.
AMERICAN JOURNAL OF EPIDEMIOLOGY (2005)
Pilot trial of phenylbutyrate in spinal muscular atrophy
E Mercuri et al.
NEUROMUSCULAR DISORDERS (2004)
The Hammersmith functional motor scale for children with spinal muscular atrophy: a scale to test ability and monitor progress in children with limited ambulation
M Main et al.
EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY (2003)
Gene expression comparison of biopsies from Duchenne muscular dystrophy (DMD) and normal skeletal muscle
JN Haslett et al.
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Motor unit number estimation in infants and children with spinal muscular atrophy
MB Bromberg et al.
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A placebo-controlled trial of gabapentin in spinal muscular atrophy
RG Miller et al.
JOURNAL OF THE NEUROLOGICAL SCIENCES (2001)
Quantitative analysis of gene expression in human articular cartilage from normal and osteoarthritic joints
I Martin et al.
OSTEOARTHRITIS AND CARTILAGE (2001)
Prospective analysis of strength in spinal muscular atrophy
ST Iannaccone et al.
JOURNAL OF CHILD NEUROLOGY (2000)