Literature DB >> 25408368

Successful GPi stimulation in genetic Parkinson's disease caused by mosaicism of alpha-synuclein gene duplication: first description.

C Perandones1, N Aráoz Olivos, G B Raina, L A Pellene, J C Giugni, D S Calvo, M Radrizzani, F Piedimonte, F E Micheli.   

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Year:  2014        PMID： 25408368     DOI： 10.1007/s00415-014-7576-4

Source DB:  PubMed          Journal:  J Neurol        ISSN： 0340-5354            Impact factor:   4.849


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  10 in total

1.  Effective long-term subthalamic stimulation in PARK8 positive Parkinson's disease.

Authors:  Sorin Breit; T Wächter; D Schmid-Bielenberg; D Weiss; P Leitner; T Nägele; D Freudenstein; T Gasser; R Krüger
Journal:  J Neurol       Date:  2010-02-23       Impact factor: 4.849

2.  Successful subthalamic stimulation in genetic Parkinson's disease caused by duplication of the α-synuclein gene.

Authors:  Angelo Antonini; Manuela Pilleri; Angelo Padoan; Andrea Landi; Salvatore Ferla; Roberta Biundo; Domenico D'Avella
Journal:  J Neurol       Date:  2011-07-15       Impact factor: 4.849

3.  Parkinson-related genetics in patients treated with deep brain stimulation.

Authors:  K K Johansen; J V Jørgensen; L R White; M J Farrer; J O Aasly
Journal:  Acta Neurol Scand       Date:  2011-03       Impact factor: 3.209

4.  Subthalamic nucleus stimulation is efficacious in patients with Parkinsonism and LRRK2 mutations.

Authors:  Michael Schüpbach; Ebba Lohmann; Mathieu Anheim; Suzanne Lesage; Virginie Czernecki; Sadek Yaici; Yulia Worbe; Perrine Charles; Marie-Laure Welter; Pierre Pollak; Alexandra Dürr; Yves Agid; Alexis Brice
Journal:  Mov Disord       Date:  2007-01       Impact factor: 10.338

5.  Mosaicism of alpha-synuclein gene rearrangements: report of two unrelated cases of early-onset parkinsonism.

Authors:  C Perandones; J C Giugni; D S Calvo; G B Raina; L De Jorge Lopez; V Volpini; C P Zabetian; I F Mata; M Caputo; D Corach; M Radrizzani; F E Micheli
Journal:  Parkinsonism Relat Disord       Date:  2013-11-27       Impact factor: 4.891

6.  Alpha-synuclein gene rearrangements in dominantly inherited parkinsonism: frequency, phenotype, and mechanisms.

Authors:  Pablo Ibáñez; Suzanne Lesage; Sabine Janin; Ebba Lohmann; Frank Durif; Alain Destée; Anne-Marie Bonnet; Christine Brefel-Courbon; Simon Heath; Diana Zelenika; Yves Agid; Alexandra Dürr; Alexis Brice
Journal:  Arch Neurol       Date:  2009-01

7.  Bilateral deep brain stimulation vs best medical therapy for patients with advanced Parkinson disease: a randomized controlled trial.

Authors:  Frances M Weaver; Kenneth Follett; Matthew Stern; Kwan Hur; Crystal Harris; William J Marks; Johannes Rothlind; Oren Sagher; Domenic Reda; Claudia S Moy; Rajesh Pahwa; Kim Burchiel; Penelope Hogarth; Eugene C Lai; John E Duda; Kathryn Holloway; Ali Samii; Stacy Horn; Jeff Bronstein; Gatana Stoner; Jill Heemskerk; Grant D Huang
Journal:  JAMA       Date:  2009-01-07       Impact factor: 56.272

8.  Bilateral subthalamic stimulation in Parkin and PINK1 parkinsonism.

Authors:  E Moro; J Volkmann; I R König; S Winkler; A Hiller; S Hassin-Baer; J Herzog; A Schnitzler; K Lohmann; M O Pinsker; J Voges; A Djarmatic; P Seibler; A M Lozano; E Rogaeva; A E Lang; G Deuschl; C Klein
Journal:  Neurology       Date:  2008-04-01       Impact factor: 9.910

9.  Are parkin patients particularly suited for deep-brain stimulation?

Authors:  Ebba Lohmann; Marie-Laure Welter; Valérie Fraix; Paul Krack; Suzanne Lesage; Sophie Laine; Marie-Laure Tanguy; Jean-Luc Houeto; Valérie Mesnage; Pierre Pollak; Alexandra Durr; Yves Agid; Alexis Brice
Journal:  Mov Disord       Date:  2008-04-15       Impact factor: 10.338

10.  alpha-Synuclein gene duplication is present in sporadic Parkinson disease.

Authors:  T-B Ahn; S Y Kim; J Y Kim; S-S Park; D S Lee; H J Min; Y K Kim; S E Kim; J-M Kim; H-J Kim; J Cho; B S Jeon
Journal:  Neurology       Date:  2007-07-11       Impact factor: 9.910
  10 in total
  8 in total

Review 1.  The contribution of CNVs to the most common aging-related neurodegenerative diseases.

Authors:  Giulia Gentile; Valentina La Cognata; Sebastiano Cavallaro
Journal:  Aging Clin Exp Res       Date:  2020-02-06       Impact factor: 3.636

Review 2.  Genetics of synucleins in neurodegenerative diseases.

Authors:  José Brás; Elizabeth Gibbons; Rita Guerreiro
Journal:  Acta Neuropathol       Date:  2020-08-01       Impact factor: 17.088

Review 3.  A Review on Response to Device-Aided Therapies Used in Monogenic Parkinsonism and GBA Variants Carriers: A Need for Guidelines and Comparative Studies.

Authors:  Philippe A Salles; James Liao; Umar Shuaib; Ignacio F Mata; Hubert H Fernandez
Journal:  J Parkinsons Dis       Date:  2022       Impact factor: 5.520

4.  Letter to the Editor: Hypothesis: Somatic Mosaicism and Parkinson Disease.

Authors:  C Perandones; L A Pellene; J C Giugni; D S Calvo; G B Raina; S M Cuevas; I F Mata; C P Zabetian; M Caputo; D Corach; F E Micheli; M Radrizzani
Journal:  Exp Neurobiol       Date:  2015-04-24       Impact factor: 3.261

Review 5.  The role of de novo mutations in adult-onset neurodegenerative disorders.

Authors:  Gaël Nicolas; Joris A Veltman
Journal:  Acta Neuropathol       Date:  2018-11-26       Impact factor: 17.088

6.  Deep brain stimulation for monogenic Parkinson's disease: a systematic review.

Authors:  Tomi Kuusimäki; Jaana Korpela; Eero Pekkonen; Mika H Martikainen; Angelo Antonini; Valtteri Kaasinen
Journal:  J Neurol       Date:  2019-01-18       Impact factor: 4.849

Review 7.  Deep brain stimulation and genetic variability in Parkinson's disease: a review of the literature.

Authors:  Johanne Ligaard; Julia Sannæs; Lasse Pihlstrøm
Journal:  NPJ Parkinsons Dis       Date:  2019-09-06

8.  Subthalamic deep brain stimulation in Parkinson's disease with SNCA mutations: Based on the follow-up to 10 years.

Authors:  Jinyoung Youn; Genko Oyama; Nobutaka Hattori; Yasushi Shimo; Tomi Kuusimäki; Valtteri Kaasinen; Angelo Antonini; Dongyeop Kim; Jung-Il Lee; Kyung Rae Cho; Jin Whan Cho
Journal:  Brain Behav       Date:  2022-01-18       Impact factor: 2.708
  8 in total

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