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Saneto, Russell P
134  Ergebnisse:
Personensuche X
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1

Optimized Nutrition in Mitochondrial Diseases Correlates wi..:

Saneto, Russell P. ; Karaa, Amel
Neurotherapeutics.  20 (2023)  6 - p. 1694-1695 , 2023
Link: https://doi.org/10.1007/..
 
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2

Rare EIF4A2 variants are associated with a neurodevelopment..:

Paul, Maimuna S. ; Duncan, Anna R. ; Genetti, Casie A....
The American Journal of Human Genetics.  110 (2023)  1 - p. 120-145 , 2023
Link: https://doi.org/10.1016/..
 
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3

Correction: Ketogenic diet as a glycine lowering therapy in..:

Shelkowitz, Emily ; Saneto, Russell P. ; Al-Hertani, Walla...
Orphanet Journal of Rare Diseases.  18 (2023)  1 - p. , 2023
Link: https://doi.org/10.1186/..
 
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4

THE IMPACT OF GLYCINE LOWERING THERAPIES IN NONKETOTIC HYPE..:

Shelkowitz, Emily ; Saneto, Russell P. ; Al-Hertani, Walla...
Molecular Genetics and Metabolism.  135 (2022)  4 - p. 299 , 2022
Link: https://doi.org/10.1016/..
 
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5

Time to harmonize mitochondrial syndrome nomenclature and c..:

Emmanuele, Valentina ; Ganesh, Jaya ; Vladutiu, Georgirene...
Molecular Genetics and Metabolism.  136 (2022)  2 - p. 125-131 , 2022
Link: https://doi.org/10.1016/..
 
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6

Disruption of cellular iron homeostasis by IREB2 missense v..:

Maio, Nunziata ; Saneto, Russell P. ; Steet, Richard...
Brain Communications.  4 (2022)  3 - p. , 2022
Link: https://doi.org/10.1093/..
 
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7

Ketogenic diet as a glycine lowering therapy in nonketotic ..:

Shelkowitz, Emily ; Saneto, Russell P. ; Al-Hertani, Walla...
Orphanet Journal of Rare Diseases.  17 (2022)  1 - p. , 2022
Link: https://doi.org/10.1186/..
 
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8

A randomized, double‐blind trial of triheptanoin for drug‐r..:

Striano, Pasquale ; Auvin, Stéphane ; Collins, Abigail...
Epilepsia.  63 (2022)  7 - p. 1748-1760 , 2022
Link: https://doi.org/10.1111/..
 
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9

Profiling PI3K-AKT-MTOR variants in focal brain malformatio..:

Pirozzi, Filomena ; Berkseth, Matthew ; Shear, Rylee...
Brain.  145 (2022)  3 - p. 925-938 , 2022
Link: https://doi.org/10.1093/..
 
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10

Cutaneous vascular anomalies associated with a mosaic varia..:

Davies, Olivia M.T. ; Garzon, Maria C. ; Frieden, Ilona J....
Journal of the American Academy of Dermatology.  87 (2022)  1 - p. 162-164 , 2022
Link: https://doi.org/10.1016/..
 
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11

Mitochondria-Associated Membrane Scaffolding with Endoplasm..:

Saneto, Russell P. ; Perez, Francisco A.
Frontiers in Molecular Biosciences.  9 (2022)  - p. , 2022
Link: https://doi.org/10.3389/..
 
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12

Homoplasmy of the m. 8993 T>G variant in a patient without ..:

Saneto, Russell P. ; Patrick, Kristina E. ; Perez, Francisco A.
Mitochondrion.  59 (2021)  - p. 58-62 , 2021
Link: https://doi.org/10.1016/..
 
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13

Cerebral Visual Impairment Characterized by Abnormal Visual..:

Kelly, John P. ; Phillips, James O. ; Saneto, Russell P....
Investigative Opthalmology & Visual Science.  62 (2021)  6 - p. 15 , 2021
Link: https://doi.org/10.1167/..
 
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14

Pediatric hemispherectomy outcome: Adaptive functioning, in..:

Shurtleff, Hillary A. ; Roberts, Emma A. ; Young, Christopher C....
Epilepsy & Behavior.  124 (2021)  - p. 108298 , 2021
Link: https://doi.org/10.1016/..
 
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15

The spectrum of brain malformations and disruptions in twin:

Park, Kaylee B. ; Chapman, Teresa ; Aldinger, Kimberly A....
American Journal of Medical Genetics Part A.  185 (2020)  9 - p. 2690-2718 , 2020
Link: https://doi.org/10.1002/..
 
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