Pure Parkinsonism as Possible Phenotype Expansion of <scp>THAP1</scp>‐Related Disorders-Reference-Cited by-同舟云学术

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Pure Parkinsonism as Possible Phenotype Expansion of THAP1‐Related Disorders

Published:2024-02-15 Issue:6 Volume:39 Page:1072-1074
ISSN:0885-3185
Container-title:Movement Disorders
language:en
Short-container-title:Movement Disorders

Author:

Ambrosini Enrico¹^ORCID,Cancilla Rita²,Paul Jefri Jeya³,Bauer Peter³,Garavaglia Barbara⁴,Barili Valeria⁵,Percesepe Antonio¹⁵,Negrotti Anna⁶

Affiliation:

1. Medical Genetics Unit University Hospital of Parma Parma Italy

2. Neurology, Department of Medicine and Surgery University of Parma Parma Italy

3. Centogene GmbH Rostock Germany

4. Medical Genetics and Neurogenetics Unit, Fondazione IRCCS Istituto Neurologico “C. Besta” Milan Italy

5. Medical Genetics, Department of Medicine and Surgery University of Parma Parma Italy

6. Neurology Unit University Hospital of Parma Parma Italy

Funder

Associazione Emma e Ernesto Rulfo per la Genetica Medica

Publisher

Wiley

Reference7 articles.

1. Genetic analysis of dystonia-related genes in Parkinson's disease

2. Mutations in the THAP1 gene are responsible for DYT6 primary torsion dystonia

3. Late-onset parkinsonism in a patient with a novel frameshift THAP1 variant

4. The Rostock International Parkinson's Disease ( ROPAD ) Study: Protocol and Initial Findings

5. The relevance of gene panels in movement disorders diagnosis: A lab perspective

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