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Danzi, Matt
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1

Mutations in MYO9B are associated with Charcot–Marie–Tooth ..:

Cipriani, Silvia ; Guerrero‐Valero, Marta ; Tozza, Stefano...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10099703/.  , 2022
Link: http://www.ncbi.nlm.nih...
 
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2

Translesion DNA synthesis-driven mutagenesis in very early ..:

Furno, Elena ; Busseau, Isabelle ; Lorenzi, Claudio...
info:eu-repo/semantics/altIdentifier/doi/10.1101/2020.11.28.401471.  , 2021
Link: https://hal.archives-ouv..
 
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3

Translesion DNA synthesis-driven mutagenesis in very early ..:

Furno, Elena ; Busseau, Isabelle ; Lorenzi, Claudio...
info:eu-repo/semantics/altIdentifier/doi/10.1101/2020.11.28.401471.  , 2021
Link: https://hal.science/hal-..
 
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4

RARE MUTATIONS IN ATL3, SPTLC2 AND SCN9A EXPLAINING HEREDIT..:

Cintra, Vivian Pedigone ; Dohrn, Maike F ; Tomaselli, Pedro José...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8325641/.  , 2021
Link: http://www.ncbi.nlm.nih...
 
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5

Cbp-dependent histone acetylation mediates axon regeneratio..:

Hutson, Thomas ; Kathe, Claudia ; Palmisano, Ilaria...
info:eu-repo/semantics/altIdentifier/doi/10.1126/scitranslmed.aaw2064.  , 2019
Link: https://hal.archives-ouv..
 
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6

Truncating Mutations in UBAP1 Cause Hereditary Spastic Para..:

Farazi Fard, Mohammad Ali ; Rebelo, Adriana P ; Buglo, Elena...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6451742/.  , 2019
Link: http://www.ncbi.nlm.nih...
 
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7

Opposing functions of microglial and macrophagic TNFR2 in t..:

Gao, Han ; Danzi, Matt ; Choi, Claire S...
Gao , H , Danzi , M , Choi , C S , Taherian , M , Dalby-Hansen , C , Ellman , D G , Madsen , P M , Bixby , J L , Lemmon , V P , Lambertsen , K L & Brambilla , R 2017 , ' Opposing functions of microglial and macrophagic TNFR2 in the pathogenesis of experimental autoimmune encephalomyelitis ' , Cell Reports , vol. 18 , no. 1 , pp. 198-212 . https://doi.org/10.1016/j.celrep.2016.11.083.  , 2017
Link: https://portal.findresea..
 
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8

A novel mutation in VCP causes Charcot–Marie–Tooth Type 2 d..:

Gonzalez, Michael A ; Feely, Shawna M ; Speziani, Fiorella...
https://doi.org/10.1093/brain/awu224.  , 2014
Link: https://doi.org/10.1093/..
 
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9

Standards of NGS Data Sharing and Analysis in Ataxias: Reco..:

Beijer, Danique ; Fogel, Brent L ; Beltran, Sergi...
info:eu-repo/semantics/altIdentifier/issn/1473-4222.  , 2023
Link: https://pub.dzne.de/reco..
 
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10

Spinocerebellar ataxia 27B: episodic symptoms and acetazola..:

Ashton, Catherine ; Indelicato, Elisabetta ; Pellerin, David...
https://discovery.ucl.ac.uk/id/eprint/10177609/1/fcad239.pdf.  , 2023
Link: https://discovery.ucl.ac..
 
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11

Deep Intronic FGF14 GAA Repeat Expansion in Late-Onset Cere..:

Pellerin, David ; Danzi, Matt C ; Wilke, Carlo...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10042577/.  , 2023
Link: http://www.ncbi.nlm.nih...
 
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12

Deep Intronic FGF14 GAA Repeat Expansion in Late-Onset Cere..:

Pellerin, David ; Danzi, Matt C ; Wilke, Carlo...
https://discovery.ucl.ac.uk/id/eprint/10162059/1/nejmoa2207406.pdf.  , 2023
Link: https://discovery.ucl.ac..
 
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13

Optimized testing strategy for the diagnosis of GAA-FGF14 a..:

Bonnet, Céline ; Pellerin, David ; Weber, Frédéric...
info:eu-repo/semantics/altIdentifier/doi/10.1038/s41598-023-36654-8.  , 2023
Link: https://pub.dzne.de/reco..
 
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14

Frequency of GAA-FGF14 Ataxia in a Large Cohort of Brazilia..:

Novis, Luiz Eduardo ; Frezatti, Rodrigo S ; Pellerin, David...
https://discovery.ucl.ac.uk/id/eprint/10176274/1/Houlden_Frequency%20of%20GAA-FGF14%20Ataxia%20in%20a%20Large%20Cohort%20of%20Brazilian%20Patients%20With%20Unsolved%20Adult-Onset%20Cerebellar%20Ataxia_VoR.pdf.  , 2023
Link: https://discovery.ucl.ac..
 
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15

Spinocerebellar ataxia 27B: episodic symptoms and acetazola..:

Ashton, Catherine ; Indelicato, Elisabetta ; Lamont, Phillipa J...
info:eu-repo/semantics/altIdentifier/doi/10.1093/braincomms/fcad239.  , 2023
Link: https://pub.dzne.de/reco..
 
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