Long‐Read Sequencing Unravels the Complexity of Structural Variants in <scp><i>PRKN</i></scp> in Two Individuals with Early‐Onset Parkinson's Disease-Reference-Cited by-同舟云学术

Long‐Read Sequencing Unravels the Complexity of Structural Variants in PRKN in Two Individuals with Early‐Onset Parkinson's Disease

Published:2024-06-28 Issue: Volume: Page:
ISSN:0885-3185
Container-title:Movement Disorders
language:en
Short-container-title:Movement Disorders

Author:

Cogan Guillaume¹²³⁴^ORCID,Daida Kensuke¹²,Billingsley Kimberley J.¹²^ORCID,Tesson Christelle³^ORCID,Forlani Sylvie³,Jornea Ludmila³,Arnaud Lionel⁴,Tissier Laurène⁴,LeGuern Eric⁴,Singleton Andrew B.¹²,Ferrien Mélanie³,Bernard Hélène Gervais⁵,Lesage Suzanne³,Blauwendraat Cornelis¹²^ORCID,Brice Alexis³

Affiliation:

1. Laboratory of Neurogenetics National Institute on Aging Bethesda Maryland USA

2. Center for Alzheimer's and Related Dementias National Institute on Aging Bethesda Maryland USA

3. Institut National de la Recherche Médicale‐U1127 Centre National de la Recherche Scientifique‐UMR7225, APHP Paris France

4. AP‐HP Sorbonne Université, Département de génétique médicale, UF de Neurogénétique Moléculaire et Cellulaire Hôpital Pitié‐Salpêtrière Paris France

5. Service de Neurologie C Claude Bernard Lyon I, Université de Lyon, Hospices Civils de Lyon, Hôpital Neurologique Pierre Wertheimer Lyon France

Funder

Fondation pour la Recherche Médicale

Publisher

Wiley

Reference4 articles.

1. Systematic Review and UK-Based Study of PARK2 (parkin), PINK1, PARK7 (DJ-1) and LRRK2 in early-onset Parkinson's disease

2. Genotype–phenotype correlation in PRKN-associated Parkinson’s disease

3. Characterization of Recessive Parkinson Disease in a Large Multicenter Study

4. Long‐Read Sequencing Resolves a Complex Structural Variant in PRKN Parkinson's Disease