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Monani, Umrao R.
51  Ergebnisse:
Personensuche X
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1

A spinal muscular atrophy modifier implicates the SMN prote..:

Kim, Jeong-Ki ; Jha, Narendra N. ; Awano, Tomoyuki...
Neuron.  111 (2023)  9 - p. 1423-1439.e4 , 2023
Link: https://doi.org/10.1016/..
 
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2

Muscle: to the neuromuscular disease phenotype in spinal mu..:

Jha, Narendra N. ; Kim, Jeong-Ki ; Her, Yoon-Ra.
JCI Insight.  8 (2023)  18 - p. , 2023
Link: https://doi.org/10.1172/..
 
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3

Glut1 deficiency syndrome: New and emerging insights into a..:

Tang, Maoxue ; Monani, Umrao R
Neuroscience Insights.  16 (2021)  - p. 263310552110115 , 2021
Link: https://doi.org/10.1177/..
 
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4

An early endothelial cell–specific requirement for Glut1 is..:

Tang, Maoxue ; Park, Sarah H. ; Petri, Sabrina...
JCI Insight.  6 (2021)  3 - p. , 2021
Link: https://doi.org/10.1172/..
 
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5

Diminished muscle oxygen uptake and fatigue in spinal muscu..:

Montes, Jacqueline ; Goodwin, Ashley M. ; McDermott, Michael P....
Annals of Clinical and Translational Neurology.  8 (2021)  5 - p. 1086-1095 , 2021
Link: https://doi.org/10.1002/..
 
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6

Glut1 Deficiency Syndrome (Glut1DS): State of the art in 20..:

Klepper, Joerg ; Akman, Cigdem ; Armeno, Marisa...
Epilepsia Open.  5 (2020)  3 - p. 354-365 , 2020
Link: https://doi.org/10.1002/..
 
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7

Therapeutic strategies for glucose transporter 1 deficiency..:

Tang, Maoxue ; Park, Sarah H. ; De Vivo, Darryl C..
Annals of Clinical and Translational Neurology.  6 (2019)  9 - p. 1923-1932 , 2019
Link: https://doi.org/10.1002/..
 
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8

A cell autonomous torsinA requirement for cholinergic neuro..:

Pappas, Samuel S ; Li, Jay ; LeWitt, Tessa M...
eLife.  7 (2018)  - p. , 2018
Link: https://doi.org/10.7554/..
 
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9

Augmenting the SMN Protein to Treat Infantile Spinal Muscul..:

Kim, Jeong-Ki ; Monani, Umrao R.
Neuron.  97 (2018)  5 - p. 1001-1003 , 2018
Link: https://doi.org/10.1016/..
 
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10

Motor neuronal repletion of the NMJ organizer, Agrin, modul..:

Kim, Jeong-Ki ; Caine, Charlotte ; Awano, Tomoyuki..
Human Molecular Genetics.  26 (2017)  13 - p. 2377-2385 , 2017
Link: https://doi.org/10.1093/..
 
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11

Brain microvasculature defects and Glut1 deficiency syndrom..:

Tang, Maoxue ; Gao, Guangping ; Rueda, Carlos B....
Nature Communications.  8 (2017)  1 - p. , 2017
Link: https://doi.org/10.1038/..
 
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12

A pathogenic S250F missense mutation results in a mouse mod..:

Caine, Charlotte ; Shohat, Meytal ; Kim, Jeong-Ki...
Human Molecular Genetics.  26 (2017)  22 - p. 4406-4415 , 2017
Link: https://doi.org/10.1093/..
 
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13

Spinal Muscular Atrophies:

, In: Neuromuscular Disorders of Infancy, Childhood, and Adolescence,
Darras, Basil T. ; Markowitz, Jennifer A. ; Monani, Umrao R.. - p. 117-145 , 2015
Link: https://doi.org/10.1016/..
 
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14

List of Contributors:

, In: Neuromuscular Disorders of Infancy, Childhood, and Adolescence,
Akman, Hasan O. ; Axelrod, Felicia B. ; Baets, Jonathan... - p. xxix-xxxii , 2015
Link: https://doi.org/10.1016/..
 
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15

Spectrum of Neuropathophysiology in Spinal Muscular Atrophy..:

Harding, Brian N. ; Kariya, Shingo ; Monani, Umrao R....
Journal of Neuropathology & Experimental Neurology.  74 (2015)  1 - p. 15-24 , 2015
Link: https://doi.org/10.1097/..
 
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