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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1993 1
2000 1
2004 1
2005 1
2006 3
2007 3
2008 2
2009 1
2011 3
2013 5
2014 4
2015 6
2016 6
2017 9
2018 4
2019 8
2020 10
2021 5
2022 5
2023 2
2024 0

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70 results

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Page 1
Patient and caregiver experiences with pantothenate kinase-associated neurodegeneration (PKAN): results from a patient community survey.
Klopstock T, Mercimek-Andrews S, Jurecka A, Wood P, Cwyl M, Klucken A, López A, Scalise R, Valle A, Mollet F, Perez-Duenas B, Skowronska M, Chroscinska-Krawczyk M, Escolar ML, Wade A, Rintell D. Klopstock T, et al. Orphanet J Rare Dis. 2023 Aug 31;18(1):257. doi: 10.1186/s13023-023-02869-1. Orphanet J Rare Dis. 2023. PMID: 37653408 Free PMC article.
Adeno-associated virus-mediated gene therapy in a patient with Canavan disease using dual routes of administration and immune modulation.
Corti M, Byrne BJ, Gessler DJ, Thompson G, Norman S, Lammers J, Coleman KE, Liberati C, Elder ME, Escolar ML, Tuna IS, Mesaros C, Kleiner GI, Barbouth DS, Gray-Edwards HL, Clement N, Cleaver BD, Gao G. Corti M, et al. Among authors: escolar ml. Mol Ther Methods Clin Dev. 2023 Jun 19;30:303-314. doi: 10.1016/j.omtm.2023.06.001. eCollection 2023 Sep 14. Mol Ther Methods Clin Dev. 2023. PMID: 37601414 Free PMC article.
β-Galactosylceramidase Deficiency Causes Upregulation of Long Pentraxin-3 in the Central Nervous System of Krabbe Patients and Twitcher Mice.
Coltrini D, Chandran AMK, Belleri M, Poliani PL, Cominelli M, Pagani F, Capra M, Calza S, Prioni S, Mauri L, Prinetti A, Kofler JK, Escolar ML, Presta M. Coltrini D, et al. Among authors: escolar ml. Int J Mol Sci. 2022 Aug 21;23(16):9436. doi: 10.3390/ijms23169436. Int J Mol Sci. 2022. PMID: 36012705 Free PMC article.
"Atypical" Krabbe disease in two siblings harboring biallelic GALC mutations including a deep intronic variant.
Nicita F, Stregapede F, Deodato F, Pizzi S, Martinelli S, Pagliara D, Aiello C, Cumbo F, Piemonte F, D'Amico J, Pro S, Longo D, Genovese S, Tartaglia M, Escolar ML, Bertini E, Travaglini L. Nicita F, et al. Among authors: escolar ml. Eur J Hum Genet. 2022 Aug;30(8):984-988. doi: 10.1038/s41431-022-01111-z. Epub 2022 May 17. Eur J Hum Genet. 2022. PMID: 35581417 Free PMC article.
70 results