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Hayflick, Susan J
165  results:
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1

Emerging variants, unique phenotypes, and transcriptomic si..:

Cavestro, Chiara ; Morra, Francesca ; Legati, Andrea...
Annals of Clinical and Translational Neurology.  11 (2024)  6 - p. 1615-1629 , 2024
Link: https://doi.org/10.1002/..
 
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2

Abnormal Brain Iron Accumulation is a Rare Finding in Down ..:

Gregory, Allison ; Wilson, Jenny L. ; Hogarth, Penelope.
Pediatric Neurology.  138 (2023)  - p. 1-4 , 2023
Link: https://doi.org/10.1016/..
 
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3

A Brief History of NBIA Gene Discovery:

Hayflick, Susan J.
Journal of Movement Disorders.  16 (2023)  2 - p. 133-137 , 2023
Link: https://doi.org/10.14802..
 
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4

A burning question from the first international BPAN sympos..:

Mollereau, Bertrand ; Hayflick, Susan J ; Escalante, Ricardo...
Autophagy.  19 (2023)  12 - p. 3234-3239 , 2023
Link: https://doi.org/10.1080/..
 
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5

Pantothenate kinase 2 interacts with PINK1 to regulate mito..:

Huang, Yunpeng ; Wan, Zhihui ; Tang, Yinglu...
Nature Communications.  13 (2022)  1 - p. , 2022
Link: https://doi.org/10.1038/..
 
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6

Coenzyme A precursors flow from mother to zygote and from m..:

Yu, Yi ; van der Zwaag, Marianne ; Wedman, Jouke Jan...
Molecular Cell.  82 (2022)  14 - p. 2650-2665.e12 , 2022
Link: https://doi.org/10.1016/..
 
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7

PKAN pathogenesis and treatment:

Hayflick, Susan J. ; Jeong, Suh Young ; Sibon, Ody C.M.
Molecular Genetics and Metabolism.  137 (2022)  3 - p. 283-291 , 2022
Link: https://doi.org/10.1016/..
 
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8

Clinical implementation of RNA sequencing for Mendelian dis..:

Yépez, Vicente A. ; Gusic, Mirjana ; Kopajtich, Robert...
Genome Medicine.  14 (2022)  1 - p. , 2022
Link: https://doi.org/10.1186/..
 
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9

Mitochondrial DNA Analysis from Exome Sequencing Data Impro..:

Poole, Olivia V. ; Pizzamiglio, Chiara ; Murphy, David...
Annals of Neurology.  89 (2021)  6 - p. 1240-1247 , 2021
Link: https://doi.org/10.1002/..
 
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10

Towards Precision Therapies for Inherited Disorders of Neur..:

Spaull, Robert V.V. ; Soo, Audrey K.S. ; Hogarth, Penelope..
Tremor and Other Hyperkinetic Movements.  11 (2021)  1 - p. , 2021
Link: https://doi.org/10.5334/..
 
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11

Consensus clinical management guideline for beta‐propeller ..:

Wilson, Jenny L ; Gregory, Allison ; Kurian, Manju A...
Developmental Medicine & Child Neurology.  63 (2021)  12 - p. 1402-1409 , 2021
Link: https://doi.org/10.1111/..
 
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12

Brain MRI Pattern Recognition in Neurodegeneration With Bra..:

Lee, Jae-Hyeok ; Yun, Ji Young ; Gregory, Allison..
Frontiers in Neurology.  11 (2020)  - p. , 2020
Link: https://doi.org/10.3389/..
 
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13

Secondary tauopathy in a genetic synucleinopathy, mitochond..:

Nguyen, Vy ; Garcia, Daphne ; Setthavongsack, Naly...
Alzheimer's & Dementia.  16 (2020)  S2 - p. , 2020
Link: https://doi.org/10.1002/..
 
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14

Magnetic resonance imaging pattern recognition in childhood..:

Mohammad, Shekeeb S ; Angiti, Rajeshwar Reddy ; Biggin, Andrew...
Brain Communications.  2 (2020)  2 - p. , 2020
Link: https://doi.org/10.1093/..
 
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15

Cannabis Use in Children With Pantothenate Kinase–Associate..:

Wilson, Jenny L. ; Gregory, Allison ; Wakeman, Katrina...
Journal of Child Neurology.  35 (2019)  4 - p. 259-264 , 2019
Link: https://doi.org/10.1177/..
 
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