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John, Staropoli
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1

Expanding the clinical spectrum of the lysosomal disorders ..:

Karaa, Amel ; Simas, Alexendra M. ; John, Staropoli...
Molecular Genetics and Metabolism.  114 (2015)  2 - p. S60 , 2015
Link: https://doi.org/10.1016/..
 
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2

Spinal Muscular Atrophy (SMA) Subtype Concordance in Siblin..:

Jones, Cynthia C. ; Cook, Suzanne F. ; Jarecki, Jill...
Journal of Neuromuscular Diseases.  7 (2020)  1 - p. 33-40 , 2020
Link: https://doi.org/10.3233/..
 
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3

Neurofilament as a potential biomarker for spinal muscular ..:

Darras, Basil T. ; Crawford, Thomas O. ; Finkel, Richard S....
Annals of Clinical and Translational Neurology.  6 (2019)  5 - p. 932-944 , 2019
Link: https://doi.org/10.1002/..
 
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4

Increased systemic HSP70B levels in spinal muscular atrophy..:

Eichelberger, Eric J. ; Alves, Christiano R. R. ; Zhang, Ren...
Annals of Clinical and Translational Neurology.  8 (2021)  7 - p. 1495-1501 , 2021
Link: https://doi.org/10.1002/..
 
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5

Nusinersen initiated in infants during the presymptomatic s..:

De Vivo, Darryl C. ; Bertini, Enrico ; Swoboda, Kathryn J....
Neuromuscular Disorders.  29 (2019)  11 - p. 842-856 , 2019
Link: https://doi.org/10.1016/..
 
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6

SMN deficiency in severe models of spinal muscular atrophy ..:

Jangi, Mohini ; Fleet, Christina ; Cullen, Patrick...
Proceedings of the National Academy of Sciences.  114 (2017)  12 - p. , 2017
Link: https://doi.org/10.1073/..
 
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7

SMN deficiency in severe models of spinal muscular atrophy ..:

Jangi, Mohini ; Fleet, Christina ; Cullen, Patrick...
Proceedings of the National Academy of Sciences of the United States of America.  114 (2017)  12 - p. E2347-E2356 , 2017
Link: https://www.jstor.org/st..
 
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8

Diagnosis and misdiagnosis of adult neuronal ceroid lipofus..:

Berkovic, Samuel F. ; Staropoli, John F. ; Carpenter, Stirling...
Neurology.  87 (2016)  6 - p. 579-584 , 2016
Link: https://doi.org/10.1212/..
 
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9

Neuronal ceroid lipofuscinosis with DNAJC5/CSPα mutation ha..:

Henderson, Michael X. ; Wirak, Gregory S. ; Zhang, Yong-quan...
Acta Neuropathologica.  131 (2015)  4 - p. 621-637 , 2015
Link: https://doi.org/10.1007/..
 
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10

Newborn Blood Spot Screening Test Using Multiplexed Real-Ti..:

Vogt, Robert F ; Hannon, W Harry ; Dobrowolski, Steven F...
Clinical Chemistry.  61 (2015)  2 - p. 412-419 , 2015
Link: https://doi.org/10.1373/..
 
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11

Rescue of gene-expression changes in an induced mouse model..:

Staropoli, John F. ; Li, Huo ; Chun, Seung J....
Genomics.  105 (2015)  4 - p. 220-228 , 2015
Link: https://doi.org/10.1016/..
 
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12

Exome sequencing in amyotrophic lateral sclerosis identifie..:

Cirulli, Elizabeth T. ; Lasseigne, Brittany N. ; Petrovski, Slavé...
Science.  347 (2015)  6229 - p. 1436-1441 , 2015
Link: https://doi.org/10.1126/..
 
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13

Exome sequencing in amyotrophic lateral sclerosis identifie..:

Cirulli, Elizabeth T. ; Lasseigne, Brittany N. ; Petrovski, Slavé...
Science.  347 (2015)  6229 - p. 1436-1441 , 2015
Link: http://www.jstor.org/sta..
 
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14

Human iPSC models of neuronal ceroid lipofuscinosis capture..:

Lojewski, Xenia ; Staropoli, John F. ; Biswas-Legrand, Sunita...
Human Molecular Genetics.  23 (2013)  8 - p. 2005-2022 , 2013
Link: https://doi.org/10.1093/..
 
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15

Neuronal Ceroid Lipofuscinosis: Impact of Recent Genetic Ad..:

Cotman, Susan L. ; Karaa, Amel ; Staropoli, John F..
Current Neurology and Neuroscience Reports.  13 (2013)  8 - p. , 2013
Link: https://doi.org/10.1007/..
 
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