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Matt C Danzi

Showing results (71-80 of 81) with videos related to

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Medrxiv : the Preprint Server for Health Sciences|July 15, 2024
Somatic instability of the <i>FGF14</i> -SCA27B GAA•TTC repeat reveals a marked expansion bias in the cerebellumDavid Pellerin, Jean-Loup Méreaux, Susana Boluda, et al.
Brain : a Journal of Neurology|October 8, 2024
Somatic instability of the FGF14-SCA27B GAA•TTC repeat reveals a marked expansion bias in the cerebellumDavid Pellerin, Jean-Loup Méreaux, Susana Boluda, et al.
Experimental Neurology|October 2, 2024
The GENESIS database and tools: A decade of discovery in Mendelian genomicsMatt C Danzi, Eric Powell, Adriana P Rebelo, et al.
American Journal of Human Genetics|April 2, 2019
Truncating Mutations in UBAP1 Cause Hereditary Spastic ParaplegiaMohammad Ali Farazi Fard, Adriana P Rebelo, Elena Buglo, et al.
Nature Genetics|June 27, 2024
A common flanking variant is associated with enhanced stability of the FGF14-SCA27B repeat locusDavid Pellerin, Giulia F Del Gobbo, Madeline Couse, et al.
Medrxiv : the Preprint Server for Health Sciences|November 19, 2025
Population-scale Long-read Sequencing in the <i>All of Us</i> Research ProgramKiran V Garimella, Qiuhui Li, Julie Wertz, et al.
Journal of Neurology|June 17, 2024
Spinocerebellar ataxia 27B: a frequent and slowly progressive autosomal-dominant cerebellar ataxia-experience from an Italian cohortSara Satolli, Salvatore Rossi, Elisa Vegezzi, et al.
Brain : a Journal of Neurology|April 16, 2025
Intronic FGF14 GAA repeat expansions impact progression and survival in multiple system atrophyViorica Chelban, David Pellerin, Nirosen Vijiaratnam, et al.
Nature Genetics|May 28, 2020
Author Correction: Biallelic mutations in SORD cause a common and potentially treatable hereditary neuropathy with implications for diabetesAndrea Cortese, Yi Zhu, Adriana P Rebelo, et al.
Nature Genetics|May 6, 2020
Biallelic mutations in SORD cause a common and potentially treatable hereditary neuropathy with implications for diabetesAndrea Cortese, Yi Zhu, Adriana P Rebelo, et al.
Pageof 9

Showing results (71-80 of 81) with videos related to

Sort By:
Pageof 9
Medrxiv : the Preprint Server for Health Sciences|July 15, 2024
Somatic instability of the <i>FGF14</i> -SCA27B GAA•TTC repeat reveals a marked expansion bias in the cerebellumDavid Pellerin, Jean-Loup Méreaux, Susana Boluda, et al.
Brain : a Journal of Neurology|October 8, 2024
Somatic instability of the FGF14-SCA27B GAA•TTC repeat reveals a marked expansion bias in the cerebellumDavid Pellerin, Jean-Loup Méreaux, Susana Boluda, et al.
Experimental Neurology|October 2, 2024
The GENESIS database and tools: A decade of discovery in Mendelian genomicsMatt C Danzi, Eric Powell, Adriana P Rebelo, et al.
American Journal of Human Genetics|April 2, 2019
Truncating Mutations in UBAP1 Cause Hereditary Spastic ParaplegiaMohammad Ali Farazi Fard, Adriana P Rebelo, Elena Buglo, et al.
Nature Genetics|June 27, 2024
A common flanking variant is associated with enhanced stability of the FGF14-SCA27B repeat locusDavid Pellerin, Giulia F Del Gobbo, Madeline Couse, et al.
Medrxiv : the Preprint Server for Health Sciences|November 19, 2025
Population-scale Long-read Sequencing in the <i>All of Us</i> Research ProgramKiran V Garimella, Qiuhui Li, Julie Wertz, et al.
Journal of Neurology|June 17, 2024
Spinocerebellar ataxia 27B: a frequent and slowly progressive autosomal-dominant cerebellar ataxia-experience from an Italian cohortSara Satolli, Salvatore Rossi, Elisa Vegezzi, et al.
Brain : a Journal of Neurology|April 16, 2025
Intronic FGF14 GAA repeat expansions impact progression and survival in multiple system atrophyViorica Chelban, David Pellerin, Nirosen Vijiaratnam, et al.
Nature Genetics|May 28, 2020
Author Correction: Biallelic mutations in SORD cause a common and potentially treatable hereditary neuropathy with implications for diabetesAndrea Cortese, Yi Zhu, Adriana P Rebelo, et al.
Nature Genetics|May 6, 2020
Biallelic mutations in SORD cause a common and potentially treatable hereditary neuropathy with implications for diabetesAndrea Cortese, Yi Zhu, Adriana P Rebelo, et al.
Pageof 9