E-LIB Suche - Ergebnisse für: Lara, Marian

1

Presynaptic congenital myasthenic syndrome with altered syn..:

Maselli, Ricardo A. ; Vázquez, Jessica ; Schrumpf, Leah...
Molecular Genetics & Genomic Medicine. 6 (2018) 3 - p. 434-440 , 2018

Link: https://doi.org/10.1002/..

2

A presynaptic congenital myasthenic syndrome attributed to ..:

Maselli, Ricardo A. ; Arredondo, Juan ; Vázquez, Jessica...
Annals of the New York Academy of Sciences. 1413 (2018) 1 - p. 119-125 , 2018

Link: https://doi.org/10.1111/..

3

Presynaptic congenital myasthenic syndrome with a homozygou..:

Maselli, Ricardo A. ; Arredondo, Juan ; Vázquez, Jessica...
American Journal of Medical Genetics Part A. 173 (2017) 8 - p. 2240-2245 , 2017

Link: https://doi.org/10.1002/..

4

Congenital Myasthenic Syndrome due to DOK7 mutations in a f..:

Bevilacqua, Jorge A. ; Lara, Marian ; Díaz, Jorge...
European Journal of Translational Myology. 27 (2017) 3 - p. , 2017

Link: https://doi.org/10.4081/..

5

Defective fast inactivation recovery of Nav1.4 in congenita..:

Lossin, Christoph ; Arnold, William ; Feldman, Daniel...
Neurology. 84 (2015) 14_supplement - p. , 2015

Link: https://doi.org/10.1212/..

6

Choline Acetyltransferase Mutations Causing Congenital Myas..:

Arredondo, Juan ; Lara, Marian ; Gospe Jr., Sídney M....
Human Mutation. 36 (2015) 9 - p. 881-893 , 2015

Link: https://doi.org/10.1002/..

7

Defective fast inactivation recovery of Nav1.4 in congenita..:

Arnold, W. David ; Feldman, Daniel H. ; Ramirez, Sandra...
Annals of Neurology. 77 (2015) 5 - p. 840-850 , 2015

Link: https://doi.org/10.1002/..

8

Congenital Myasthenic Syndrome due to DOK7 Mutations in a F..:

Bevilacqua, Jorge ; Lara, Marian ; Díaz, Jorge.
Neurology. 84 (2015) 14_supplement - p. , 2015

Link: https://doi.org/10.1212/..

9

COOH-terminal collagen Q (COLQ) mutants causing human defic..:

Arredondo, Juan ; Lara, Marian ; Ng, Fiona...
Human Genetics. 133 (2013) 5 - p. 599-616 , 2013

Link: https://doi.org/10.1007/..

10

A presynaptic congenital myasthenic syndrome attributed to ..:

Maselli, Ricardo A ; Arredondo, Juan ; Vázquez, Jessica...
qt6n9790fz. , 2018

Link: https://escholarship.org..

11

Presynaptic congenital myasthenic syndrome with altered syn..:

Maselli, Ricardo A ; Vázquez, Jessica ; Schrumpf, Leah...
qt75c1g7vh. , 2018

Link: https://escholarship.org..

12

A presynaptic congenital myasthenic syndrome attributed to ..:

Maselli, Ricardo A ; Arredondo, Juan ; Vázquez, Jessica...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6252105/. , 2018

Link: http://www.ncbi.nlm.nih...

13

Presynaptic congenital myasthenic syndrome with altered syn..:

Maselli, Ricardo A ; Vázquez, Jessica ; Schrumpf, Leah...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6014458/. , 2018

Link: http://www.ncbi.nlm.nih...

14

Presynaptic congenital myasthenic syndrome with a homozygou..:

Maselli, Ricardo A ; Arredondo, Juan ; Vázquez, Jessica...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5541137/. , 2017

Link: http://www.ncbi.nlm.nih...

15

Presynaptic congenital myasthenic syndrome with a homozygou..:

Maselli, Ricardo A ; Arredondo, Juan ; Vázquez, Jessica...
qt3f58t2b8. , 2017

Link: https://escholarship.org..