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Matt C Danzi

Showing results (21-30 of 81) with videos related to

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Cell Reports|January 5, 2017
Opposing Functions of Microglial and Macrophagic TNFR2 in the Pathogenesis of Experimental Autoimmune EncephalomyelitisHan Gao, Matt C Danzi, Claire S Choi, et al.
Brain : a Journal of Neurology|May 11, 2023
GAA-FGF14 ataxia (SCA27B): phenotypic profile, natural history progression and 4-aminopyridine treatment responseCarlo Wilke, David Pellerin, David Mengel, et al.
Annals of Clinical and Translational Neurology|March 20, 2024
Recurrent ATP1A1 variant Gly903Arg causes developmental delay, intellectual disability, and autismMaike F Dohrn, Guney Bademci, Adriana P Rebelo, et al.
Brain Communications|September 14, 2023
Spinocerebellar ataxia 27B: episodic symptoms and acetazolamide response in 34 patientsCatherine Ashton, Elisabetta Indelicato, David Pellerin, et al.
Genome Biology|January 31, 2024
RExPRT: a machine learning tool to predict pathogenicity of tandem repeat lociSarah Fazal, Matt C Danzi, Isaac Xu, et al.
Brain Communications|June 9, 2025
Diagnostic yield and limitations of whole-genome sequencing for hereditary cerebellar ataxiaWai Yan Yau, Roisin Sullivan, Emer O'Connor, et al.
Stem Cell Research|July 2, 2026
Establishment and characterization of three human pluripotent stem cell lines from patients with spinocerebellar ataxia 27B (SCA27B)David Pellerin, Adriana Rebelo, Mohammad Faraz Zafeer, et al.
Clinical Genetics|January 15, 2024
The FGF14 GAA repeat expansion in Greek patients with late-onset cerebellar ataxia and an overview of the SCA27B phenotype across populationsChrisoula Kartanou, Alexandros Mitrousias, David Pellerin, et al.
Biorxiv : the Preprint Server for Biology|January 27, 2025
Detailed tandem repeat allele profiling in 1,027 long-read genomes reveals genome-wide patterns of pathogenicityMatt C Danzi, Isaac R L Xu, Sarah Fazal, et al.
Nature Communications|December 22, 2020
Enriched conditioning expands the regenerative ability of sensory neurons after spinal cord injury via neuronal intrinsic redox signalingFrancesco De Virgiliis, Thomas H Hutson, Ilaria Palmisano, et al.
Pageof 9

Showing results (21-30 of 81) with videos related to

Sort By:
Pageof 9
Cell Reports|January 5, 2017
Opposing Functions of Microglial and Macrophagic TNFR2 in the Pathogenesis of Experimental Autoimmune EncephalomyelitisHan Gao, Matt C Danzi, Claire S Choi, et al.
Brain : a Journal of Neurology|May 11, 2023
GAA-FGF14 ataxia (SCA27B): phenotypic profile, natural history progression and 4-aminopyridine treatment responseCarlo Wilke, David Pellerin, David Mengel, et al.
Annals of Clinical and Translational Neurology|March 20, 2024
Recurrent ATP1A1 variant Gly903Arg causes developmental delay, intellectual disability, and autismMaike F Dohrn, Guney Bademci, Adriana P Rebelo, et al.
Brain Communications|September 14, 2023
Spinocerebellar ataxia 27B: episodic symptoms and acetazolamide response in 34 patientsCatherine Ashton, Elisabetta Indelicato, David Pellerin, et al.
Genome Biology|January 31, 2024
RExPRT: a machine learning tool to predict pathogenicity of tandem repeat lociSarah Fazal, Matt C Danzi, Isaac Xu, et al.
Brain Communications|June 9, 2025
Diagnostic yield and limitations of whole-genome sequencing for hereditary cerebellar ataxiaWai Yan Yau, Roisin Sullivan, Emer O'Connor, et al.
Stem Cell Research|July 2, 2026
Establishment and characterization of three human pluripotent stem cell lines from patients with spinocerebellar ataxia 27B (SCA27B)David Pellerin, Adriana Rebelo, Mohammad Faraz Zafeer, et al.
Clinical Genetics|January 15, 2024
The FGF14 GAA repeat expansion in Greek patients with late-onset cerebellar ataxia and an overview of the SCA27B phenotype across populationsChrisoula Kartanou, Alexandros Mitrousias, David Pellerin, et al.
Biorxiv : the Preprint Server for Biology|January 27, 2025
Detailed tandem repeat allele profiling in 1,027 long-read genomes reveals genome-wide patterns of pathogenicityMatt C Danzi, Isaac R L Xu, Sarah Fazal, et al.
Nature Communications|December 22, 2020
Enriched conditioning expands the regenerative ability of sensory neurons after spinal cord injury via neuronal intrinsic redox signalingFrancesco De Virgiliis, Thomas H Hutson, Ilaria Palmisano, et al.
Pageof 9