Literature DB >> 25168210

TUBB4A novel mutation reinforces the genotype-phenotype correlation of hypomyelination with atrophy of the basal ganglia and cerebellum.

Daniel Carvalho1, Savana Santos2, Bernardo Martins2, Fernanda Pinto Marques2.   

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Year:  2014        PMID： 25168210     DOI： 10.1093/brain/awu242

Source DB:  PubMed          Journal:  Brain        ISSN： 0006-8950            Impact factor:   13.501


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  6 in total

1.  Early-onset progressive spastic paraplegia caused by a novel TUBB4A mutation: brain MRI and FDG-PET findings.

Authors:  Anna Sagnelli; Stefania Magri; Laura Farina; Luisa Chiapparini; Giorgio Marotta; Davide Tonduti; Monica Consonni; Graziana Maria Scigliuolo; Riccardo Benti; Davide Pareyson; Franco Taroni; Ettore Salsano; Daniela Di Bella
Journal:  J Neurol       Date:  2016-01-25       Impact factor: 4.849

2.  Understanding molecular mechanisms and predicting phenotypic effects of pathogenic tubulin mutations.

Authors:  Thomas J Attard; Julie P I Welburn; Joseph A Marsh
Journal:  PLoS Comput Biol       Date:  2022-10-07       Impact factor: 4.779

3.  A novel TUBB4A mutation G96R identified in a patient with hypomyelinating leukodystrophy onset beyond adolescence.

Authors:  Yongping Lu; Yumiko Ondo; Keiko Shimojima; Hitoshi Osaka; Toshiyuki Yamamoto
Journal:  Hum Genome Var       Date:  2017-08-03

4.  In-silico phenotype prediction by normal mode variant analysis in TUBB4A-related disease.

Authors:  Oded Shor; Felix Benninger; Avi Fellner; Yael Goldberg; Dorit Lev; Lina Basel-Salmon
Journal:  Sci Rep       Date:  2022-01-07       Impact factor: 4.379

Review 5.  Microtubule Dysfunction: A Common Feature of Neurodegenerative Diseases.

Authors:  Antonella Sferra; Francesco Nicita; Enrico Bertini
Journal:  Int J Mol Sci       Date:  2020-10-05       Impact factor: 5.923

6.  H-ABC- and dystonia-causing TUBB4A mutations show distinct pathogenic effects.

Authors:  Victor Krajka; Franca Vulinovic; Mariya Genova; Kerstin Tanzer; A S Jijumon; Satish Bodakuntla; Stephanie Tennstedt; Helge Mueller-Fielitz; Britta Meier; Carsten Janke; Christine Klein; Aleksandar Rakovic
Journal:  Sci Adv       Date:  2022-03-11       Impact factor: 14.136
  6 in total

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