Literature DB >> 24532203

Clinical progression of SYNJ1-related early onset atypical parkinsonism: 3-year follow up of the original Italian family.

Marina Picillo1, Angelo Ranieri, Giuseppe Orefice, Vincenzo Bonifati, Paolo Barone.   

Abstract

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Year:  2014        PMID： 24532203     DOI： 10.1007/s00415-014-7270-6

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


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  3 in total

1.  The Sac1 domain of SYNJ1 identified mutated in a family with early-onset progressive Parkinsonism with generalized seizures.

Authors:  Catharine E Krebs; Siamak Karkheiran; James C Powell; Mian Cao; Vladimir Makarov; Hossein Darvish; Gilbert Di Paolo; Ruth H Walker; Gholam Ali Shahidi; Joseph D Buxbaum; Pietro De Camilli; Zhenyu Yue; Coro Paisán-Ruiz
Journal:  Hum Mutat       Date:  2013-07-19       Impact factor: 4.878

2.  Mutation in the SYNJ1 gene associated with autosomal recessive, early-onset Parkinsonism.

Authors:  Marialuisa Quadri; Mingyan Fang; Marina Picillo; Simone Olgiati; Guido J Breedveld; Josja Graafland; Bin Wu; Fengping Xu; Roberto Erro; Marianna Amboni; Sabina Pappatà; Mario Quarantelli; Grazia Annesi; Aldo Quattrone; Hsin F Chien; Egberto R Barbosa; Ben A Oostra; Paolo Barone; Jun Wang; Vincenzo Bonifati
Journal:  Hum Mutat       Date:  2013-08-06       Impact factor: 4.878

Review 3.  The genetics of Parkinson's disease: progress and therapeutic implications.

Authors:  Andrew B Singleton; Matthew J Farrer; Vincenzo Bonifati
Journal:  Mov Disord       Date:  2013-01       Impact factor: 10.338
  3 in total
  8 in total

1.  The recurrent mutation Arg258Gln in SYNJ1 (PARK20) is not a common cause of Parkinson's disease.

Authors:  Susen Winkler; Eva-Juliane Vollstedt; Meike Kasten; Daniel Alvarez-Fischer; Christine Klein; Katja Lohmann
Journal:  J Neurol       Date:  2014-03-09       Impact factor: 4.849

Review 2.  Neuropathology of genetic synucleinopathies with parkinsonism: Review of the literature.

Authors:  Susanne A Schneider; Roy N Alcalay
Journal:  Mov Disord       Date:  2017-11       Impact factor: 10.338

3.  A Novel SYNJ1 Mutation in a Tunisian Family with Juvenile Parkinson's Disease Associated with Epilepsy.

Authors:  Sawssan Ben Romdhan; Salma Sakka; Nouha Farhat; Siwar Triki; Mariem Dammak; Chokri Mhiri
Journal:  J Mol Neurosci       Date:  2018-09-05       Impact factor: 3.444

4.  Olfaction in Homozygous and Heterozygous SYNJ1 Arg258Gln Mutation Carriers.

Authors:  Marina Picillo; Anna De Rosa; Maria Teresa Pellecchia; Chiara Criscuolo; Marianna Amboni; Roberto Erro; Vincenzo Bonifati; Giuseppe De Michele; Paolo Barone
Journal:  Mov Disord Clin Pract       Date:  2015-07-25

Review 5.  New Genes Causing Hereditary Parkinson's Disease or Parkinsonism.

Authors:  Andreas Puschmann
Journal:  Curr Neurol Neurosci Rep       Date:  2017-09       Impact factor: 5.081

6.  Clinical Variability of SYNJ1-Associated Early-Onset Parkinsonism.

Authors:  Suzanne Lesage; Graziella Mangone; Christelle Tesson; Hélène Bertrand; Mustapha Benmahdjoub; Selma Kesraoui; Mohamed Arezki; Andrew Singleton; Jean-Christophe Corvol; Alexis Brice
Journal:  Front Neurol       Date:  2021-03-25       Impact factor: 4.003

Review 7.  Synaptojanin 1 mutation in Parkinson's disease brings further insight into the neuropathological mechanisms.

Authors:  Valérie Drouet; Suzanne Lesage
Journal:  Biomed Res Int       Date:  2014-09-16       Impact factor: 3.411

8.  Mutation Analysis of Consanguineous Moroccan Patients with Parkinson's Disease Combining Microarray and Gene Panel.

Authors:  Ahmed Bouhouche; Christelle Tesson; Wafaa Regragui; Mounia Rahmani; Valérie Drouet; Houyam Tibar; Zouhayr Souirti; Rafiqua Ben El Haj; Naima Bouslam; Mohamed Yahyaoui; Alexis Brice; Ali Benomar; Suzanne Lesage
Journal:  Front Neurol       Date:  2017-10-31       Impact factor: 4.003
  8 in total

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