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Lubbe, Steven
137  Ergebnisse:
Personensuche X
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1

Childhood‐Onset Lower Limb Focal Dystonia Due to a NAA15 Va..:

Danti, Federica Rachele ; Sarmiento, Ignacio Juan Keller ; Moloney, Patrick B....
Movement Disorders.  39 (2024)  4 - p. 747-749 , 2024
Link: https://doi.org/10.1002/..
 
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2

De novo FRMD5 Missense Variants in Patients with Childhood‐..:

Keller Sarmiento, Ignacio J. ; Bustos, Bernabe I. ; Blackburn, Joanna...
Movement Disorders.  39 (2024)  7 - p. 1231-1236 , 2024
Link: https://doi.org/10.1002/..
 
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3

Nuclear aggregates of NONO/SFPQ and A-to-I-edited RNA in Pa..:

Belur, Nandkishore R. ; Bustos, Bernabe I. ; Lubbe, Steven J..
Neuron.  , 2024
Link: https://doi.org/10.1016/..
 
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4

Alterations in Blood Methylome as Potential Epigenetic Biom..:

Gonzalez‐Latapi, Paulina ; Bustos, Bernabe ; Dong, Siyuan...
Annals of Neurology.  95 (2024)  6 - p. 1162-1172 , 2024
Link: https://doi.org/10.1002/..
 
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5

Variants in ATP5F1B are associated with dominantly inherite..:

Nasca, Alessia ; Mencacci, Niccolò E ; Invernizzi, Federica...
Brain.  146 (2023)  7 - p. 2730-2738 , 2023
Link: https://doi.org/10.1093/..
 
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6

Homozygous might be hemizygous: CRISPR/Cas9 editing in iPSC..:

Simkin, Dina ; Papakis, Vasileios ; Bustos, Bernabe I....
Stem Cell Reports.  17 (2022)  4 - p. 993-1008 , 2022
Link: https://doi.org/10.1016/..
 
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7

Mid51/Fis1 mitochondrial oligomerization complex drives lys..:

Wong, Yvette C. ; Kim, Soojin ; Cisneros, Jasmine...
Journal of Cell Biology.  221 (2022)  10 - p. , 2022
Link: https://doi.org/10.1083/..
 
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8

Novel THAP1 missense variant with incomplete penetrance in ..:

Keller Sarmiento, Ignacio J. ; Fraint, Avram ; Kinsley, Lisa...
Parkinsonism & Related Disorders.  105 (2022)  - p. 7-8 , 2022
Link: https://doi.org/10.1016/..
 
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9

Novel bi-allelic FBXO7 variants in a family with early-onse..:

Keller Sarmiento, Ignacio J. ; Afshari, Mitra ; Kinsley, Lisa...
Parkinsonism & Related Disorders.  104 (2022)  - p. 88-90 , 2022
Link: https://doi.org/10.1016/..
 
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10

Gene-based burden analysis of damaging private variants in ..:

Hu, Jing ; Waters, Cheryl H. ; Spiegelman, Dan...
Neurobiology of Aging.  119 (2022)  - p. 136-138 , 2022
Link: https://doi.org/10.1016/..
 
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11

Melanin and Neuromelanin: Linking Skin Pigmentation and Par..:

Krainc, Talia ; Monje, Mariana H.G. ; Kinsinger, Morgan..
Movement Disorders.  38 (2022)  2 - p. 185-195 , 2022
Link: https://doi.org/10.1002/..
 
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12

Genome-wide contribution of common short-tandem repeats to ..:

Bustos, Bernabe I ; Billingsley, Kimberley ; Blauwendraat, Cornelis...
Brain.  146 (2022)  1 - p. 65-74 , 2022
Link: https://doi.org/10.1093/..
 
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13

Assessing the relationship between monoallelic PRKN mutatio..:

Lubbe, Steven J ; Bustos, Bernabe I ; Hu, Jing...
Human Molecular Genetics.  30 (2021)  1 - p. 78-86 , 2021
Link: https://doi.org/10.1093/..
 
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14

Childhood‐Onset Chorea Caused by a Recurrent De Novo DRD2 V..:

Mencacci, Niccolò E. ; Steel, Dora ; Magrinelli, Francesca...
Movement Disorders.  36 (2021)  6 - p. 1472-1473 , 2021
Link: https://doi.org/10.1002/..
 
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15

Replication assessment of NUS1 variants in Parkinson's dise..:

Bustos, Bernabe I. ; Bandres-Ciga, Sara ; Gibbs, J. Raphael...
Neurobiology of Aging.  101 (2021)  - p. 300.e1-300.e3 , 2021
Link: https://doi.org/10.1016/..
 
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