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Kava, Maina
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1

Natural history of TANGO2 deficiency disorder: Baseline ass..:

Miyake, Christina Y. ; Lay, Erica J. ; Soler-Alfonso, Claudia...
Genetics in Medicine.  25 (2023)  4 - p. 100352 , 2023
Link: https://doi.org/10.1016/..
 
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2

SLC6A1 variant pathogenicity, molecular function and phenot..:

Stefanski, Arthur ; Pérez-Palma, Eduardo ; Brünger, Tobias...
Brain.  146 (2023)  12 - p. 5198-5208 , 2023
Link: https://doi.org/10.1093/..
 
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3

COX16 deficiency causes a novel mitochondrial disorder with..:

Balasubramaniam, Shanti ; Wintjes, Liesbeth T.M. ; Kava, Maina...
Pathology.  54 (2022)  - p. S71-S72 , 2022
Link: https://doi.org/10.1016/..
 
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4

FGF21 outperforms GDF15 as a diagnostic biomarker of mitoch..:

Riley, Lisa G. ; Nafisinia, Michael ; Menezes, Minal J....
Molecular Genetics and Metabolism.  135 (2022)  1 - p. 63-71 , 2022
Link: https://doi.org/10.1016/..
 
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5

Patient care standards for primary mitochondrial disease in..:

Sue, Carolyn M. ; Balasubramaniam, Shanti ; Bratkovic, Drago...
Internal Medicine Journal.  52 (2021)  1 - p. 110-120 , 2021
Link: https://doi.org/10.1111/..
 
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6

The diagnostic utility of genome sequencing in a pediatric ..:

Riley, Lisa G. ; Cowley, Mark J. ; Gayevskiy, Velimir...
Genetics in Medicine.  22 (2020)  7 - p. 1254-1261 , 2020
Link: https://doi.org/10.1038/..
 
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7

Benefits of powered standing wheelchair devices for adolesc..:

Bayley, Klair ; Parkinson, Stephanie ; Jacoby, Peter...
Journal of Paediatrics and Child Health.  56 (2020)  9 - p. 1419-1425 , 2020
Link: https://doi.org/10.1111/..
 
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8

A novel variant inCOX16causes cytochrome c oxidase deficien..:

Wintjes, Liesbeth T. M. ; Kava, Maina ; Brandt, Frans A....
Human Mutation.  42 (2020)  2 - p. 135-141 , 2020
Link: https://doi.org/10.1002/..
 
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9

Powered standing wheelchairs promote independence, health a..:

Vorster, Nitamarie ; Evans, Kerry ; Murphy, Nada...
Neuromuscular Disorders.  29 (2019)  3 - p. 221-230 , 2019
Link: https://doi.org/10.1016/..
 
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10

Clinical and Electrophysiological Characteristics of Vincri..:

Kava, Maina ; Walsh, Peter ; SrinivasJois, Ravisha...
Journal of the International Child Neurology Association.  , 2017
Link: https://doi.org/10.17724..
 
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11

Eye and Brain Abnormalities in Congenital Muscular Dystroph..:

Kava, Maina ; Chitayat, David ; Blaser, Susan..
Pediatric Neurology.  49 (2013)  5 - p. 374-378 , 2013
Link: https://doi.org/10.1016/..
 
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12

3‐Methylglutaconyl‐CoA hydratase deficiency: When ascertain..:

Hertzog, Ashley ; Selvanathan, Arthavan ; Pandithan, Dinusha...
JIMD Reports.  63 (2022)  6 - p. 568-574 , 2022
Link: https://doi.org/10.1002/..
 
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13

Application of Genome Sequencing from Blood to Diagnose Mit..:

Rius, Rocio ; Compton, Alison G. ; Baker, Naomi L....
Genes.  12 (2021)  4 - p. 607 , 2021
Link: https://doi.org/10.3390/..
 
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14

Epilepsy and Electroencephalographic Abnormalities in SATB2..:

Lewis, Hannah ; Samanta, Debopam ; Örsell, Jenny-Li...
Pediatric Neurology.  112 (2020)  - p. 94-100 , 2020
Link: https://doi.org/10.1016/..
 
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15

Beneficial outcome of early dietary lysine restriction as a..:

Kava, Maina P. ; Bryant, Leah ; Rowe, Peter...
JIMD Reports.  54 (2020)  1 - p. 9-15 , 2020
Link: https://doi.org/10.1002/..
 
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