Literature DB >> 33048271

Spinocerebellar ataxia type 48: last but not least.

Giuseppe De Michele1, Filippo Santorelli2.   

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Year:  2020        PMID： 33048271     DOI： 10.1007/s10072-020-04812-9

Source DB:  PubMed          Journal:  Neurol Sci        ISSN： 1590-1874            Impact factor:   3.307


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  3 in total

Review 1.  Spinocerebellar ataxia type 48: last but not least.

Authors:  Giovanna De Michele; Daniele Galatolo; Melissa Barghigiani; Diletta Dello Iacovo; Rosanna Trovato; Alessandra Tessa; Elena Salvatore; Alessandro Filla; Giuseppe De Michele; Filippo M Santorelli
Journal:  Neurol Sci       Date:  2020-04-27       Impact factor: 3.307

2.  Inaugural cognitive decline, late disease onset and novel STUB1 variants in SCAR16.

Authors:  José Gazulla; Silvia Izquierdo-Alvarez; Esther Sierra-Martínez; María Eugenia Marta-Moreno; Sara Alvarez
Journal:  Neurol Sci       Date:  2018-09-11       Impact factor: 3.307

3.  Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Authors:  Sue Richards; Nazneen Aziz; Sherri Bale; David Bick; Soma Das; Julie Gastier-Foster; Wayne W Grody; Madhuri Hegde; Elaine Lyon; Elaine Spector; Karl Voelkerding; Heidi L Rehm
Journal:  Genet Med       Date:  2015-03-05       Impact factor: 8.822
  3 in total
  1 in total

1.  A Severe Dementia Syndrome Caused by Intron Retention and Cryptic Splice Site Activation in STUB1 and Exacerbated by TBP Repeat Expansions.

Authors:  Marlen Colleen Reis; Julia Patrun; Nibal Ackl; Pia Winter; Maximilian Scheifele; Adrian Danek; Dagmar Nolte
Journal:  Front Mol Neurosci       Date:  2022-04-14       Impact factor: 5.639
  1 in total

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