Schwaede, Abigail
16  Ergebnisse:
Personensuche X
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4

A case report of riboflavin transporter deficiency: A novel..:

Tranel, Elizabeth S. ; McGowan, Bridget ; Drackley, Andy...
Molecular Genetics and Metabolism Reports.  38 (2024)  - p. 101051 , 2024
 
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5

Muscle channelopathies: A review:

McGowan, Bridget R. ; Schwaede, Abigail N. ; De Simone, Lenika.
Annals of the Child Neurology Society.  1 (2023)  4 - p. 273-288 , 2023
 
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9

AMFR dysfunction causes autosomal recessive spastic paraple..:

Deng, Ruizhi ; Medico-Salsench, Eva ; Nikoncuk, Anita...
AMFR consortium , Deng , R , Medico-Salsench , E , Nikoncuk , A , Ramakrishnan , R , Lanko , K , Kühn , N A , van der Linde , H C , Lor-Zade , S , Albuainain , F , Shi , Y , Yousefi , S , Capo , I , van den Herik , E M , van Slegtenhorst , M , van Minkelen , R , Geeven , G , Mulder , M T , Ruijter , G J G , Lütjohann , D , Jacobs , E H , Houlden , H , Pagnamenta , A T , Metcalfe , K , Jackson , A , Banka , S , De Simone , L , Schwaede , A , Kuntz , N , Palculict , T B , Abbas , S , Umair , M , AlMuhaizea , M , Colak , D , AlQudairy , H , Alsagob , M , Pereira , C , Trunzo , R , Karageorgou , V , Bertoli-Avella , A M , Bauer , P , Bouman , A , Hoefsloot , L H , van Ham , T J , Issa , M , Zaki , M S , Gleeson , J G , Willemsen , R , Kaya , N , Arold , S T & Maroofian , R 2023 , ' AMFR dysfunction causes autosomal recessive spastic paraplegia in human that is amenable to statin treatment in a preclinical model ' , Acta Neuropathologica , vol. 146 , no. 2 , pp. 3....  , 2023
 
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12

Outcome Measures for COL6 and LAMA2-Related Dystrophies:

Schwaede, Abigail N ; Kuntz, Nancy L
https://account.pediatricneurologybriefs.com/index.php/up-j-pnb/article/view/pedneurbriefs-34-15/7673.  , 2020
 
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13

Utility of Repetitive Nerve Stimulation in Myopathies:

Schwaede, Abigail Nancy ; Buehner, Amber ; Rao, Vamshi
https://account.pediatricneurologybriefs.com/index.php/up-j-pnb/article/view/pedneurbriefs-34-4/7657.  , 2020
 
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15

A case report of riboflavin transporter deficiency: A novel..:

Elizabeth S. Tranel ; Bridget McGowan ; Andy Drackley...
http://www.sciencedirect.com/science/article/pii/S2214426924000041.  , 2024
 
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