scholarly journals Exome sequencing reveals riboflavin transporter mutations as a cause of motor neuron disease

Brain ◽  
2012 ◽  
Vol 135 (9) ◽  
pp. 2875-2882 ◽  
Author(s):  
Janel O. Johnson ◽  
J. Raphael Gibbs ◽  
Andre Megarbane ◽  
J. Andoni Urtizberea ◽  
Dena G. Hernandez ◽  
...  
Keyword(s):  
Motor Neuron ◽  
Motor Neuron Disease ◽  
Exome Sequencing

Utility of whole exome sequencing in evaluation of juvenile motor neuron disease

2016 ◽  
Vol 53 (4) ◽  
pp. 648-652 ◽  
Author(s):  
Sonika Agarwal ◽  
Lorraine Potocki ◽  
Talia R. Collier ◽  
Suzanne L. Woodbury ◽  
Adekunle M. Adesina ◽  
...  
Keyword(s):  
Motor Neuron ◽  
Motor Neuron Disease ◽  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Whole Exome

scholarly journals Exome Sequencing Links Corticospinal Motor Neuron Disease to Common Neurodegenerative Disorders

Science ◽  
2014 ◽  
Vol 343 (6170) ◽  
pp. 506-511 ◽  
Author(s):  
G. Novarino ◽  
A. G. Fenstermaker ◽  
M. S. Zaki ◽  
M. Hofree ◽  
J. L. Silhavy ◽  
...  
Keyword(s):  
Motor Neuron ◽  
Motor Neuron Disease ◽  
Exome Sequencing ◽  
Neurodegenerative Disorders

Thr124Met myelin protein zero mutation mimicking motor neuron disease

2021 ◽  
pp. 1-6
Author(s):  
Giulia Bisogni ◽  
Angela Romano ◽  
Amelia Conte ◽  
Giorgio Tasca ◽  
Daniela Bernardo ◽  
...  
Keyword(s):  
Motor Neuron ◽  
Motor Neuron Disease ◽  
Myelin Protein ◽  
Myelin Protein Zero ◽  
Protein Zero

Late onset Sandhoff disease presenting with lower motor neuron disease and stuttering

2021 ◽  
Author(s):  
Jorge Alonso-Pérez ◽  
Ana Casasús ◽  
Álvaro Gimenez-Muñoz ◽  
Jennifer Duff ◽  
Ricard Rojas-Garcia ◽  
...  
Keyword(s):  
Motor Neuron ◽  
Motor Neuron Disease ◽  
Late Onset ◽  
Sandhoff Disease ◽  
Lower Motor Neuron ◽  
Lower Motor Neuron Disease

scholarly journals Longitudinal clinical and neuroanatomical correlates of memory impairment in motor neuron disease

2021 ◽  
Vol 29 ◽  
pp. 102545
Author(s):  
Judith Machts ◽  
Marius Keute ◽  
Joern Kaufmann ◽  
Stefanie Schreiber ◽  
Elisabeth Kasper ◽  
...  
Keyword(s):  
Motor Neuron ◽  
Motor Neuron Disease ◽  
Memory Impairment
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