Literature DB >> 33816656

Parkinsonism and Positive Dopamine Transporter Imaging in a Patient with a Novel KMT2B Variant.

Jeanne S Feuerstein1,2, Matthew Taylor3, Jennifer J Kwak4, Brian D Berman1,5.   

Abstract

Entities:  

Keywords:  DAT scan; DYT‐28; KMT2B; dystonia; parkinsonism

Year:  2021        PMID： 33816656      PMCID： PMC8008275          DOI： 10.1002/mdc3.13140

Source DB:  PubMed          Journal:  Mov Disord Clin Pract        ISSN： 2330-1619


× No keyword cloud information.
  9 in total

Review 1.  Update on KMT2B-Related Dystonia.

Authors:  Michael Zech; Daniel D Lam; Juliane Winkelmann
Journal:  Curr Neurol Neurosci Rep       Date:  2019-11-25       Impact factor: 5.081

2.  Haploinsufficiency of KMT2B, Encoding the Lysine-Specific Histone Methyltransferase 2B, Results in Early-Onset Generalized Dystonia.

Authors:  Michael Zech; Sylvia Boesch; Esther M Maier; Ingo Borggraefe; Katharina Vill; Franco Laccone; Veronika Pilshofer; Andres Ceballos-Baumann; Bader Alhaddad; Riccardo Berutti; Werner Poewe; Tobias B Haack; Bernhard Haslinger; Tim M Strom; Juliane Winkelmann
Journal:  Am J Hum Genet       Date:  2016-11-10       Impact factor: 11.025

3.  Mutations in the histone methyltransferase gene KMT2B cause complex early-onset dystonia.

Authors:  Esther Meyer; Keren J Carss; Julia Rankin; John M E Nichols; Detelina Grozeva; Agnel P Joseph; Niccolo E Mencacci; Apostolos Papandreou; Joanne Ng; Serena Barral; Adeline Ngoh; Hilla Ben-Pazi; Michel A Willemsen; David Arkadir; Angela Barnicoat; Hagai Bergman; Sanjay Bhate; Amber Boys; Niklas Darin; Nicola Foulds; Nicholas Gutowski; Alison Hills; Henry Houlden; Jane A Hurst; Zvi Israel; Margaret Kaminska; Patricia Limousin; Daniel Lumsden; Shane McKee; Shibalik Misra; Shekeeb S Mohammed; Vasiliki Nakou; Joost Nicolai; Magnus Nilsson; Hardev Pall; Kathryn J Peall; Gregory B Peters; Prab Prabhakar; Miriam S Reuter; Patrick Rump; Reeval Segel; Margje Sinnema; Martin Smith; Peter Turnpenny; Susan M White; Dagmar Wieczorek; Sarah Wiethoff; Brian T Wilson; Gidon Winter; Christopher Wragg; Simon Pope; Simon J H Heales; Deborah Morrogh; Alan Pittman; Lucinda J Carr; Belen Perez-Dueñas; Jean-Pierre Lin; Andre Reis; William A Gahl; Camilo Toro; Kailash P Bhatia; Nicholas W Wood; Erik-Jan Kamsteeg; Wui K Chong; Paul Gissen; Maya Topf; Russell C Dale; Jonathan R Chubb; F Lucy Raymond; Manju A Kurian
Journal:  Nat Genet       Date:  2016-12-19       Impact factor: 38.330

4.  Frequency and phenotypic spectrum of KMT2B dystonia in childhood: A single-center cohort study.

Authors:  Miryam Carecchio; Federica Invernizzi; Paulina Gonzàlez-Latapi; Celeste Panteghini; Giovanna Zorzi; Luigi Romito; Vincenzo Leuzzi; Serena Galosi; Chiara Reale; Federica Zibordi; Agnel P Joseph; Maya Topf; Carla Piano; Anna Rita Bentivoglio; Floriano Girotti; Paolo Morana; Benedetto Morana; Manju A Kurian; Barbara Garavaglia; Niccolò E Mencacci; Steven J Lubbe; Nardo Nardocci
Journal:  Mov Disord       Date:  2019-06-19       Impact factor: 10.338

5.  Induction of bradykinesia with pallidal deep brain stimulation in patients with cranial-cervical dystonia.

Authors:  Brian D Berman; Philip A Starr; William J Marks; Jill L Ostrem
Journal:  Stereotact Funct Neurosurg       Date:  2009-01-28       Impact factor: 1.875

6.  SPG11 Mutations Associated With a Complex Phenotype Resembling Dopa-Responsive Dystonia.

Authors:  Subhashie Wijemanne; Joshua M Shulman; Joohi Jimenez-Shahed; Daniel Curry; Joseph Jankovic
Journal:  Mov Disord Clin Pract       Date:  2015-04-28

7.  Abnormal striatal and thalamic dopamine neurotransmission: Genotype-related features of dystonia.

Authors:  M Carbon; M Niethammer; S Peng; D Raymond; V Dhawan; T Chaly; Y Ma; S Bressman; D Eidelberg
Journal:  Neurology       Date:  2009-06-16       Impact factor: 9.910

8.  Loss-of-Function Mutations in NR4A2 Cause Dopa-Responsive Dystonia Parkinsonism.

Authors:  Thomas Wirth; Louise Laure Mariani; Gaber Bergant; Michel Baulac; Marie-Odile Habert; Nathalie Drouot; Emmanuelle Ollivier; Alenka Hodžić; Gorazd Rudolf; Patrick Nitschke; Gabrielle Rudolf; Jamel Chelly; Christine Tranchant; Mathieu Anheim; Emmanuel Roze
Journal:  Mov Disord       Date:  2020-01-10       Impact factor: 10.338

9.  Dystonia-deafness syndrome caused by ACTB p.Arg183Trp heterozygosity shows striatal dopaminergic dysfunction and response to pallidal stimulation.

Authors:  Inger Marie Skogseid; Oddveig Røsby; Ane Konglund; James P Connelly; Bård Nedregaard; Greg Eigner Jablonski; Nadja Kvernmo; Asbjørg Stray-Pedersen; Joel C Glover
Journal:  J Neurodev Disord       Date:  2018-05-22       Impact factor: 4.025
  9 in total
  1 in total

1.  Freezing of Gait as a Complication of Pallidal Deep Brain Stimulation in DYT-KMT2B Patients with Evidence of Striatonigral Degeneration.

Authors:  Laura Cif; Diane Demailly; Xavier Vasques; Delphine de Verbizier; Philippe Coubes; Kathleen Gorman; Manju A Kurian
Journal:  Mov Disord Clin Pract       Date:  2022-08-09
  1 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.