Syndromic parkinsonism and dementia associated with OPA 1 missense mutations-Reference-Cited by-同舟云学术

Syndromic parkinsonism and dementia associated with OPA 1 missense mutations

Published:2015-06-10 Issue:1 Volume:78 Page:21-38
ISSN:0364-5134
Container-title:Annals of Neurology
language:en
Short-container-title:Ann Neurol.

Author:

Carelli Valerio¹²,Musumeci Olimpia³,Caporali Leonardo¹,Zanna Claudia²,La Morgia Chiara¹²,Del Dotto Valentina⁴,Porcelli Anna Maria⁴,Rugolo Michela⁴,Valentino Maria Lucia¹²,Iommarini Luisa⁴,Maresca Alessandra¹²,Barboni Piero⁵,Carbonelli Michele⁵,Trombetta Costantino⁶,Valente Enza Maria⁷,Patergnani Simone⁸,Giorgi Carlotta⁸,Pinton Paolo⁸,Rizzo Giovanni¹²,Tonon Caterina⁹,Lodi Raffaele⁹,Avoni Patrizia¹²,Liguori Rocco¹²,Baruzzi Agostino¹²,Toscano Antonio³,Zeviani Massimo¹⁰

Affiliation:

1. IRCCS Institute of Neurological Sciences of Bologna Bellaria HospitalBologna Italy

2. Unit of NeurologyDepartment of Biomedical and Neuromotor SciencesUniversity of BolognaBologna Italy

3. Department of NeuroscienceUniversity of MessinaMessina Italy

4. Department of Pharmacy and BiotechnologyUniversity of BolognaBologna Italy

5. Studio Oculistico D'AzeglioBologna Italy

6. Ophthalmology ClinicUniversity of MessinaMessina Italy

7. Mendel LaboratoryIRCCS Casa Sollievo della SofferenzaSan Giovanni Rotondo Foggia, Italy

8. Department of MorphologySurgeryand Experimental MedicineUniversity of FerraraFerrara Italy

9. Functional Magnetic Resonance UnitSt Orsola‐Malpighi PolyclinicDepartment of Biomedical and Neuromotor SciencesUniversity of BolognaBologna Italy

10. Mitochondrial Biology UnitMedical Research CouncilCambridge United Kingdom

Funder

Fondazione Telethon

Publisher

Wiley

Subject

Clinical Neurology,Neurology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ana.24410

Reference53 articles.

1. An autosomal dominant disorder with multiple deletions of mitochondrial DNA starting at the D-loop region

2. Disorders of Nuclear-Mitochondrial Intergenomic Communication

3. Mutation of POLG is associated with progressive external ophthalmoplegia characterized by mtDNA deletions

4. Mutant POLG2 Disrupts DNA Polymerase γ Subunits and Causes Progressive External Ophthalmoplegia

5. Human mitochondrial DNA deletions associated with mutations in the gene encoding Twinkle, a phage T7 gene 4-like protein localized in mitochondria

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