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Literature DB >> 24781841

Variable phenotypic expression in families with early-onset Parkinsonism due to PRKN mutations.

Siamak Karkheiran¹, Catharine E Krebs, Hossein Darvish, Mojgan Asadian, Gholam Ali Shahidi, Coro Paisán-Ruiz.

Abstract

Entities: Disease Gene

Mesh：

Substances：

Year: 2014 PMID： 24781841 DOI： 10.1007/s00415-014-7360-5

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

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15 in total

Review 1. Nonmotor symptoms in genetic Parkinson disease.

Authors: Meike Kasten; Lena Kertelge; Norbert Brüggemann; Joyce van der Vegt; Alexander Schmidt; Vera Tadic; Carsten Buhmann; Susanne Steinlechner; Maria Isabel Behrens; Alfredo Ramirez; Ferdinand Binkofski; Hartwig Siebner; Heiner Raspe; Johann Hagenah; Rebekka Lencer; Christine Klein
Journal: Arch Neurol Date: 2010-06

2. Detection of copy number changes in genes associated with Parkinson's disease in Iranian patients.

Authors: Hossein Darvish; Abolfazl Movafagh; Mir Davood Omrani; Saghar Ghasemi Firouzabadi; Eznollah Azargashb; Javad Jamshidi; Ali Khaligh; Leyla Haghnejad; Nilofar Safavi Naeini; Atefeh Talebi; Hamid Reza Heidari-Rostami; Hamid Noorollahi-Moghaddam; Siamak Karkheiran; Gholam-Ali Shahidi; Seyed Mohammad Hassan Paknejad; Hossein Ashrafian; Siamak Abdi; Matin Kayyal; Mojdeh Akbari; Negar Pedram; Babak Emamalizadeh
Journal: Neurosci Lett Date: 2013-07-21 Impact factor: 3.046

3. 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

4. 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

5. The relation between depression and parkin genotype: the CORE-PD study.

Authors: A Srivastava; M-X Tang; H Mejia-Santana; L Rosado; E D Louis; E Caccappolo; C Comella; A Colcher; A Siderowf; D Jennings; M Nance; S Bressman; W K Scott; C Tanner; S Mickel; H Andrews; C Waters; S Fahn; L Cote; S Frucht; B Ford; R N Alcalay; B Ross; M Orbe Reilly; M Rezak; K Novak; J H Friedman; R D Pfeiffer; L Marsh; B Hiner; D Merle; R Ottman; L N Clark; K Marder
Journal: Parkinsonism Relat Disord Date: 2011-12 Impact factor: 4.891

6. Accuracy of clinical diagnosis of idiopathic Parkinson's disease: a clinico-pathological study of 100 cases.

Authors: A J Hughes; S E Daniel; L Kilford; A J Lees
Journal: J Neurol Neurosurg Psychiatry Date: 1992-03 Impact factor: 10.154

7. DNAJC6 is responsible for juvenile parkinsonism with phenotypic variability.

Authors: Çiğdem Köroğlu; Leyla Baysal; Murat Cetinkaya; Hatice Karasoy; Aslıhan Tolun
Journal: Parkinsonism Relat Disord Date: 2012-12-02 Impact factor: 4.891

8. How much phenotypic variation can be attributed to parkin genotype?

Authors: Ebba Lohmann; Magali Periquet; Vincenzo Bonifati; Nick W Wood; Giuseppe De Michele; Anne-Marie Bonnet; Valérie Fraix; Emmanuel Broussolle; Martin W I M Horstink; Marie Vidailhet; Patrice Verpillat; Thomas Gasser; David Nicholl; Hélio Teive; Salmo Raskin; Olivier Rascol; Alain Destée; Merle Ruberg; Francesca Gasparini; Giuseppe Meco; Yves Agid; Alexandra Durr; Alexis Brice
Journal: Ann Neurol Date: 2003-08 Impact factor: 10.422

Review 9. The genetics of Parkinson's syndromes: a critical review.

Authors: John Hardy; Patrick Lewis; Tamas Revesz; Andrew Lees; Coro Paisan-Ruiz
Journal: Curr Opin Genet Dev Date: 2009-05-04 Impact factor: 5.578

10. A deleterious mutation in DNAJC6 encoding the neuronal-specific clathrin-uncoating co-chaperone auxilin, is associated with juvenile parkinsonism.

Authors: Simon Edvardson; Yuval Cinnamon; Asaf Ta-Shma; Avraham Shaag; Yang-In Yim; Shamir Zenvirt; Chaim Jalas; Suzanne Lesage; Alexis Brice; Albert Taraboulos; Klaus H Kaestner; Lois E Greene; Orly Elpeleg
Journal: PLoS One Date: 2012-05-01 Impact factor: 3.240

2 in total

1. A Clinical and Molecular Genetic Study of 50 Families with Autosomal Recessive Parkinsonism Revealed Known and Novel Gene Mutations.

Authors: Shaghayegh Taghavi; Rita Chaouni; Abbas Tafakhori; Luis J Azcona; Saghar Ghasemi Firouzabadi; Mir Davood Omrani; Javad Jamshidi; Babak Emamalizadeh; Gholam Ali Shahidi; Mona Ahmadi; Seyed Amir Hassan Habibi; Azadeh Ahmadifard; Atena Fazeli; Marzieh Motallebi; Peyman Petramfar; Saeed Askarpour; Shiva Askarpour; Hossein Ali Shahmohammadibeni; Neda Shahmohammadibeni; Hajar Eftekhari; Amir Ehtesham Shafiei Zarneh; Saeed Mohammadihosseinabad; Mehdi Khorrami; Safa Najmi; Ahmad Chitsaz; Parasto Shokraeian; Hossein Ehsanbakhsh; Jalal Rezaeidian; Reza Ebrahimi Rad; Faranak Madadi; Monavvar Andarva; Elham Alehabib; Minoo Atakhorrami; Seyed Erfan Mortazavi; Zahra Azimzadeh; Mahdis Bayat; Amir Mohammad Besharati; Mohammad Ali Harati-Ghavi; Samareh Omidvari; Zahra Dehghani-Tafti; Faraz Mohammadi; Banafsheh Mohammad Hossein Pour; Hamid Noorollahi Moghaddam; Ehsan Esmaili Shandiz; Arman Habibi; Zahra Taherian-Esfahani; Hossein Darvish; Coro Paisán-Ruiz
Journal: Mol Neurobiol Date: 2017-05-13 Impact factor: 5.590

2. 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

2 in total