Literature DB >> 21462267

Atypical juvenile parkinsonism in a consanguineous SPG15 family.

Julia Schicks, Matthis Synofzik, Hjörvar Pétursson, Johanna Huttenlocher, Matthias Reimold, Ludger Schöls, Peter Bauer.   

Abstract

Entities:  

Mesh：

Substances：

Year:  2011        PMID： 21462267     DOI： 10.1002/mds.23472

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


× No keyword cloud information.
  8 in total

1.  SPG15: a cause of juvenile atypical levodopa responsive parkinsonism.

Authors:  Martial Mallaret; Ouhaid Lagha-Boukbiza; Saskia Biskup; Izzie Jacques Namer; Gabrielle Rudolf; Mathieu Anheim; Christine Tranchant
Journal:  J Neurol       Date:  2013-12-24       Impact factor: 4.849

2.  Decreasing 123I-ioflupane SPECT accumulation and 123I-MIBG myocardial scintigraphy uptake in a patient with a novel homozygous mutation in the ZFYVE26 gene.

Authors:  Kishin Koh; Mai Tsuchiya; Takamura Nagasaka; Kazumasa Shindo; Yoshihisa Takiyama
Journal:  Neurol Sci       Date:  2018-10-16       Impact factor: 3.307

3.  Modeling Axonal Defects in Hereditary Spastic Paraplegia with Human Pluripotent Stem Cells.

Authors:  Kyle R Denton; Chongchong Xu; Harsh Shah; Xue-Jun Li
Journal:  Front Biol (Beijing)       Date:  2016-09-28

4.  Loss-of-function mutations in the ATP13A2/PARK9 gene cause complicated hereditary spastic paraplegia (SPG78).

Authors:  Alejandro Estrada-Cuzcano; Shaun Martin; Teodora Chamova; Matthis Synofzik; Dagmar Timmann; Tine Holemans; Albena Andreeva; Jennifer Reichbauer; Riet De Rycke; Dae-In Chang; Sarah van Veen; Jean Samuel; Ludger Schöls; Thorsten Pöppel; Danny Mollerup Sørensen; Bob Asselbergh; Christine Klein; Stephan Zuchner; Albena Jordanova; Peter Vangheluwe; Ivailo Tournev; Rebecca Schüle
Journal:  Brain       Date:  2017-02       Impact factor: 13.501

5.  PTRHD1 (C2orf79) mutations lead to autosomal-recessive intellectual disability and parkinsonism.

Authors:  Hamidreza Khodadadi; Luis J Azcona; Vajiheh Aghamollaii; Mir Davood Omrani; Masoud Garshasbi; Shaghayegh Taghavi; Abbas Tafakhori; Gholam Ali Shahidi; Javad Jamshidi; Hossein Darvish; Coro Paisán-Ruiz
Journal:  Mov Disord       Date:  2016-10-18       Impact factor: 10.338

6.  Identification of a Large DNAJB2 Deletion in a Family with Spinal Muscular Atrophy and Parkinsonism.

Authors:  Elena Sanchez; Hossein Darvish; Roxana Mesias; Shaghyegh Taghavi; Saghar Ghasemi Firouzabadi; Ruth H Walker; Abbas Tafakhori; Coro Paisán-Ruiz
Journal:  Hum Mutat       Date:  2016-08-21       Impact factor: 4.878

7.  Defective autophagy in spastizin mutated patients with hereditary spastic paraparesis type 15.

Authors:  Chiara Vantaggiato; Claudia Crimella; Giovanni Airoldi; Roman Polishchuk; Sara Bonato; Erika Brighina; Marina Scarlato; Olimpia Musumeci; Antonio Toscano; Andrea Martinuzzi; Filippo Maria Santorelli; Andrea Ballabio; Nereo Bresolin; Emilio Clementi; Maria Teresa Bassi
Journal:  Brain       Date:  2013-09-11       Impact factor: 13.501

8.  Lysosomal abnormalities in hereditary spastic paraplegia types SPG15 and SPG11.

Authors:  Benoît Renvoisé; Jaerak Chang; Rajat Singh; Sayuri Yonekawa; Edmond J FitzGibbon; Ami Mankodi; Adeline Vanderver; Alice Schindler; Camilo Toro; William A Gahl; Don J Mahuran; Craig Blackstone; Tyler Mark Pierson
Journal:  Ann Clin Transl Neurol       Date:  2014-06-01       Impact factor: 4.511
  8 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.