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John, Staropoli
57
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Online (57)
Mediatypes
Articles (Online) (29)
OpenAccess-fulltext (28)
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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/..
?
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/..
?
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/..
?
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/..
?
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/..
?
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/..
?
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..
?
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/..
?
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/..
?
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/..
?
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/..
?
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/..
?
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..
?
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/..
?
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/..
1-15