PMC Links for Books (Select 5197582) - PMC

Select item 89722991.

The genetic architecture of Parkinson’s disease

Cornelis Blauwendraat, Mike A Nalls, Andrew B Singleton

Lancet Neurol. Author manuscript; available in PMC 2022 Apr 1.

Published in final edited form as: Lancet Neurol. 2020 Feb; 19(2): 170–178. Published online 2019 Sep 11. doi: 10.1016/S1474-4422(19)30287-X

PMCID:: PMC8972299

Article PDF–750K

Select item 84254082.

DNAJC6 Mutations Disrupt Dopamine Homeostasis in Juvenile Parkinsonism‐Dystonia

Joanne Ng, Elisenda Cortès‐Saladelafont, Lucia Abela, Pichet Termsarasab, Kshitij Mankad, Sniya Sudhakar, Kathleen M. Gorman, Simon J.R. Heales, Simon Pope, Lorenzo Biassoni, Barbara Csányi, John Cain, Karl Rakshi, Helen Coutts, Sandeep Jayawant, Rosalind Jefferson, Deborah Hughes, Àngels García‐Cazorla, Detelina Grozeva, F. Lucy Raymond, Belén Pérez‐Dueñas, Christian De Goede, Toni S. Pearson, Esther Meyer, Manju A. Kurian

Mov Disord. 2020 Aug; 35(8): 1357–1368. Published online 2020 May 30. doi: 10.1002/mds.28063

PMCID:: PMC8425408

Article PDF–2.7M

Select item 60312833.

Features of GBA-associated Parkinson’s disease at presentation in the UK Tracking Parkinson’s study

Naveed Malek, Rimona S Weil, Catherine Bresner, Michael A Lawton, Katherine A Grosset, Manuela Tan, Nin Bajaj, Roger A Barker, David J Burn, Thomas Foltynie, John Hardy, Nicholas W Wood, Yoav Ben-Shlomo, Nigel W Williams, Donald G Grosset, Huw R Morris

J Neurol Neurosurg Psychiatry. 2018 Jul; 89(7): 702–709. Published online 2018 Jan 29. doi: 10.1136/jnnp-2017-317348

PMCID:: PMC6031283

Article PDF–492K

Select item 58079044.

Revisiting the Role of Clathrin-Mediated Endoytosis in Synaptic Vesicle Recycling

Ira Milosevic

Front Cell Neurosci. 2018; 12: 27. Published online 2018 Feb 6. doi: 10.3389/fncel.2018.00027

PMCID:: PMC5807904

Article PDF–1.5M

Select item 45447535.

Standards and Guidelines for the Interpretation of Sequence Variants: A Joint Consensus Recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

Sue Richards, Nazneen Aziz, Sherri Bale, David Bick, Soma Das, Julie Gastier-Foster, Wayne W. Grody, Madhuri Hegde, Elaine Lyon, Elaine Spector, Karl Voelkerding, Heidi L. Rehm

Genet Med. Author manuscript; available in PMC 2015 Nov 1.

Published in final edited form as: Genet Med. 2015 May; 17(5): 405–424. Published online 2015 Mar 5. doi: 10.1038/gim.2015.30

PMCID:: PMC4544753

Article PDF–960K

Select item 33413486.

A Deleterious Mutation in DNAJC6 Encoding the Neuronal-Specific Clathrin-Uncoating Co-Chaperone Auxilin, Is Associated with Juvenile Parkinsonism

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

PLoS One. 2012; 7(5): e36458. Published online 2012 May 1. doi: 10.1371/journal.pone.0036458

PMCID:: PMC3341348

Article PDF–240K

Select item 28401267.

Endocytosis and clathrin-uncoating defects at synapses of auxilin knockout mice

Yang-In Yim, Tao Sun, Ling-Gang Wu, Andrea Raimondi, Pietro De Camilli, Evan Eisenberg, Lois E. Greene

Proc Natl Acad Sci U S A. 2010 Mar 2; 107(9): 4412–4417. Published online 2010 Feb 16. doi: 10.1073/pnas.1000738107

PMCID:: PMC2840126

Article PDF–971K

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