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Literature DB >> 22555654

Lewy body pathology and typical Parkinson disease in a patient with a heterozygous (R275W) mutation in the Parkin gene (PARK2).

Claudio Ruffmann¹, Michela Zini, Stefano Goldwurm, Manuela Bramerio, Sonia Spinello, Damiana Rusconi, Marcello Gambacorta, Fabrizio Tagliavini, Gianni Pezzoli, Giorgio Giaccone.

Abstract

Entities: Disease Gene Mutation Species

Mesh：

Substances：

Year: 2012 PMID： 22555654 DOI： 10.1007/s00401-012-0991-7

Source DB: PubMed Journal: Acta Neuropathol ISSN： 0001-6322 Impact factor: 17.088

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7 in total

1. The relationship between obsessive-compulsive symptoms and PARKIN genotype: The CORE-PD study.

Authors: Madeleine E Sharp; Elise Caccappolo; Helen Mejia-Santana; Ming-X Tang; Llency Rosado; Martha Orbe Reilly; Diana Ruiz; Elan D Louis; Cynthia Comella; Martha Nance; Susan Bressman; William K Scott; Caroline Tanner; Cheryl Waters; Stanley Fahn; Lucien Cote; Blair Ford; Michael Rezak; Kevin Novak; Joseph H Friedman; Ronald Pfeiffer; Haydeh Payami; Eric Molho; Stuart A Factor; John Nutt; Carmen Serrano; Maritza Arroyo; Michael W Pauciulo; William C Nichols; Lorraine N Clark; Roy N Alcalay; Karen S Marder
Journal: Mov Disord Date: 2014-11-12 Impact factor: 10.338

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

Review 3. Neuropathology and pathogenesis of extrapyramidal movement disorders: a critical update-I. Hypokinetic-rigid movement disorders.

Authors: Kurt A Jellinger
Journal: J Neural Transm (Vienna) Date: 2019-06-18 Impact factor: 3.575

4. Amyloid-like oligomerization of AIMP2 contributes to α-synuclein interaction and Lewy-like inclusion.

Authors: Sangwoo Ham; Seung Pil Yun; Hyojung Kim; Donghoon Kim; Bo Am Seo; Heejeong Kim; Jeong-Yong Shin; Mohamad Aasif Dar; Gum Hwa Lee; Yun Il Lee; Doyeun Kim; Sunghoon Kim; Hee-Seok Kweon; Joo-Ho Shin; Han Seok Ko; Yunjong Lee
Journal: Sci Transl Med Date: 2020-11-11 Impact factor: 17.956

Lewy body pathology and typical Parkinson disease in a patient with a heterozygous (R275W) mutation in the Parkin gene (PARK2).

1. The relationship between obsessive-compulsive symptoms and PARKIN genotype: The CORE-PD study.

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

Review 3. Neuropathology and pathogenesis of extrapyramidal movement disorders: a critical update-I. Hypokinetic-rigid movement disorders.

4. Amyloid-like oligomerization of AIMP2 contributes to α-synuclein interaction and Lewy-like inclusion.

5. Parkinson's disease with Lewy bodies associated with a heterozygous PARKIN dosage mutation.

6. A Case of Parkinson's Disease with No Lewy Body Pathology due to a Homozygous Exon Deletion in Parkin.

Review 7. Interaction between Parkin and α-Synuclein in PARK2-Mediated Parkinson's Disease.