Literature DB >> 26207815

A Novel Homozygous TBC1D24 Mutation Causing Multifocal Myoclonus With Cerebellar Involvement.

Diane Doummar1,2,3, Cyril Mignot4, Emmanuelle Apartis5,6,7, Laurent Villard8, Diana Rodriguez1,2,3,7,9, Sandra Chantot-Bastauraud10, Lydie Burglen3,9,10.   

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Year:  2015        PMID： 26207815     DOI： 10.1002/mds.26303

Source DB:  PubMed          Journal:  Mov Disord        ISSN： 0885-3185            Impact factor:   10.338


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  9 in total

1.  PTCD3 mutations cause Leigh-like rather than Leigh syndrome.

Authors:  Josef Finsterer; Carla A Scorza; Fulvio A Scorza
Journal:  Neurogenetics       Date:  2019-01-31       Impact factor: 2.660

2.  Presynaptic disorders: a clinical and pathophysiological approach focused on the synaptic vesicle.

Authors:  Elisenda Cortès-Saladelafont; Noa Lipstein; Àngels García-Cazorla
Journal:  J Inherit Metab Dis       Date:  2018-07-18       Impact factor: 4.982

3.  Skywalker-TBC1D24 has a lipid-binding pocket mutated in epilepsy and required for synaptic function.

Authors:  Baptiste Fischer; Kevin Lüthy; Jone Paesmans; Charlotte De Koninck; Ine Maes; Jef Swerts; Sabine Kuenen; Valerie Uytterhoeven; Patrik Verstreken; Wim Versées
Journal:  Nat Struct Mol Biol       Date:  2016-09-26       Impact factor: 15.369

Review 4.  Unresolved questions regarding human hereditary deafness.

Authors:  A U Rehman; T B Friedman; A J Griffith
Journal:  Oral Dis       Date:  2016-07-11       Impact factor: 3.511

Review 5.  Emerging Monogenic Complex Hyperkinetic Disorders.

Authors:  Miryam Carecchio; Niccolò E Mencacci
Journal:  Curr Neurol Neurosci Rep       Date:  2017-10-30       Impact factor: 5.081

6.  TBC1D24 Mutations in a Sibship with Multifocal Polymyoclonus.

Authors:  Adeline Ngoh; Jose Bras; Rita Guerreiro; Amy McTague; Joanne Ng; Esther Meyer; W Kling Chong; Stewart Boyd; Linda MacLellan; Martin Kirkpatrick; Manju A Kurian
Journal:  Tremor Other Hyperkinet Mov (N Y)       Date:  2017-04-13

Review 7.  TLDc proteins: new players in the oxidative stress response and neurological disease.

Authors:  Mattéa J Finelli; Peter L Oliver
Journal:  Mamm Genome       Date:  2017-07-13       Impact factor: 2.957

8.  TBC1D24 genotype-phenotype correlation: Epilepsies and other neurologic features.

Authors:  Simona Balestrini; Mathieu Milh; Claudia Castiglioni; Kevin Lüthy; Mattea J Finelli; Patrik Verstreken; Aaron Cardon; Barbara Gnidovec Stražišar; J Lloyd Holder; Gaetan Lesca; Maria M Mancardi; Anne L Poulat; Gabriela M Repetto; Siddharth Banka; Leonilda Bilo; Laura E Birkeland; Friedrich Bosch; Knut Brockmann; J Helen Cross; Diane Doummar; Temis M Félix; Fabienne Giuliano; Mutsuki Hori; Irina Hüning; Hulia Kayserili; Usha Kini; Melissa M Lees; Girish Meenakshi; Leena Mewasingh; Alistair T Pagnamenta; Silvio Peluso; Antje Mey; Gregory M Rice; Jill A Rosenfeld; Jenny C Taylor; Matthew M Troester; Christine M Stanley; Dorothee Ville; Magdalena Walkiewicz; Antonio Falace; Anna Fassio; Johannes R Lemke; Saskia Biskup; Jessica Tardif; Norbert F Ajeawung; Aslihan Tolun; Mark Corbett; Jozef Gecz; Zaid Afawi; Katherine B Howell; Karen L Oliver; Samuel F Berkovic; Ingrid E Scheffer; Fabrizio A de Falco; Peter L Oliver; Pasquale Striano; Federico Zara; Phillipe M Campeau; S M Sisodiya
Journal:  Neurology       Date:  2016-06-08       Impact factor: 9.910

9.  The Evolutionarily Conserved Tre2/Bub2/Cdc16 (TBC), Lysin Motif (LysM), Domain Catalytic (TLDc) Domain Is Neuroprotective against Oxidative Stress.

Authors:  Mattéa J Finelli; Luis Sanchez-Pulido; Kevin X Liu; Kay E Davies; Peter L Oliver
Journal:  J Biol Chem       Date:  2015-12-14       Impact factor: 5.157
  9 in total

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