E-LIB Suche - Ergebnisse für: Abreu, Nicolas

1

Hereditary Optic Neuropathies: An Updated Review:

Lee, Samuel K. ; Mura, Caroline ; Abreu, Nicolas J....
Journal of Clinical & Translational Ophthalmology. 2 (2024) 3 - p. 64-78 , 2024

Link: https://doi.org/10.3390/..

2

Natural History of Neuronal Ceroid Lipofuscinosis Type 6, L..:

O'Neal, Matthew ; Noher de Halac, Ines ; Aylward, Shawn C....
Pediatric Neurology. 154 (2024) - p. 51-57 , 2024

Link: https://doi.org/10.1016/..

3

Developmental Skills and Neurorehabilitation for Children W..:

Bican, Rachel ; Goddard, Virginia ; Abreu, Nicolas...
Pediatric Neurology. 152 (2024) - p. 107-114 , 2024

Link: https://doi.org/10.1016/..

4

CLN2 disease resulting from a novel homozygous deep introni..:

Steigerwald, Connolly ; Borsuk, Jill ; Pappas, John...
Molecular Genetics and Metabolism. 141 (2024) 2 - p. 108049 , 2024

Link: https://doi.org/10.1016/..

5

Factors Associated With Underutilization of Genetic Testing..:

Abreu, Nicolas J. ; Chiujdea, Madeline ; Liu, Shanshan..
Pediatric Neurology. 150 (2024) - p. 17-23 , 2024

Link: https://doi.org/10.1016/..

6

Rare predicted deleterious FEZF2 variants are associated wi..:

Garber, Alison ; Weingarten, Lisa S. ; Abreu, Nicolas J....
American Journal of Medical Genetics Part A. 194 (2024) 7 - p. , 2024

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

7

Pearls & Oy-sters:CSF1R-Related Leukoencephalopathy With Sp..:

Jain, Aarushi ; Arena, Vito P. ; Steigerwald, Connolly...
Neurology. 101 (2023) 11 - p. , 2023

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

8

Two cases of MT-ND5-related mitochondrial disorder misdiagn..:

Wilkins, Sophie R ; Yu, Amy W ; Steigerwald, Connolly...
Multiple Sclerosis Journal. 29 (2023) 7 - p. 892-897 , 2023

Link: https://doi.org/10.1177/..

9

A Case of HSV-2 Meningitis Retention Syndrome (P12-10.004):

Aoun, Raissa ; Ghosh, Gayatri Raj ; Kuball, Philip.
Neurology. 100 (2023) 17_supplement_2 - p. , 2023

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

10

Neuro-Ophthalmologic Variability in Presentation of Genetic..:

Jauregui, Ruben ; Abreu, Nicolas J. ; Golan, Shani...
Brain Sciences. 13 (2023) 7 - p. 1030 , 2023

Link: https://doi.org/10.3390/..

11

CLN2 disease resulting from a novel homozygous deep introni..:

Steigerwald, Connolly ; Borsuk, Jill ; Pappas, John...
Molecular Genetics and Metabolism. 140 (2023) 4 - p. 107713 , 2023

Link: https://doi.org/10.1016/..

12

Deep Brain Stimulation for the Management of AIFM1-Related ..:

Tunyi, Jude ; Abreu, Nicolas J. ; Tripathi, Richa...
Pediatric Neurology. 142 (2023) - p. 47-50 , 2023

Link: https://doi.org/10.1016/..

13

Onset and evolution of symptoms in CLN8 disease:

Abreu, Nicolas J. ; Khurho, Zarsha ; Scherr, Jessica.
Molecular Genetics and Metabolism. 135 (2022) 2 - p. S15-S16 , 2022

Link: https://doi.org/10.1016/..

14

Novel truncating variant in KMT2E associated with cerebella..:

Abreu, Nicolas J. ; Siemon, Amy E. ; Baylis, Adriane L....
Clinical Case Reports. 10 (2022) 2 - p. , 2022

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

15

Barriers to Genetic Testing Faced by Pediatric Subspecialis..:

Abreu, Nicolas J. ; Chiujdea, Madeline ; Spence, Sarah J.
Advances in Neurodevelopmental Disorders. 7 (2022) 1 - p. 59-65 , 2022

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