E-LIB Suche - Ergebnisse für: Della-Ripa, Bruno

1

Subacute Partially Reversible Leukoencephalopathy Expands t..:

Peixoto de Barcelos, Isabella ; Bueno, Clarissa ; S. Godoy, Luís Filipe...
Brain Sciences. 13 (2023) 8 - p. 1169 , 2023

2

A rare cause of monogenic cerebral small vessel disease and..:

Budhdeo, Sanjay ; de Paiva, Anderson Rodrigues Brandão ; Wade, Charles...
Journal of Neurology. 269 (2022) 12 - p. 6673-6677 , 2022

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

3

Corrigendum to "Neurodevelopmental disorder associated with..:

Inuzuka, Luciana Midori ; Macedo-Souza, Lucia Inês ; Della-Ripa, Bruno...
Brain and Development. 43 (2021) 5 - p. 671 , 2021

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

4

Parental germline mosaicism in SCN3A-related severe develop..:

Inuzuka, Luciana Midori ; Macedo-Souza, Lucia Inês ; Guerra-Peixe, Matheus...
Brain and Development. 43 (2021) 5 - p. 669-670 , 2021

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

5

Neurodevelopmental disorder associated with de novo SCN3A p..:

Inuzuka, Luciana Midori ; Macedo-Souza, Lúcia Inês ; Della-Ripa, Bruno...
Brain and Development. 42 (2020) 2 - p. 211-216 , 2020

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

6

Additional observation of a de novo pathogenic variant in K..:

Inuzuka, Luciana Midori ; Macedo-Souza, Lucia Inês ; Della-Ripa, Bruno...
Brain and Development. 42 (2020) 9 - p. 691-695 , 2020

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

7

Ceroid lipofuscinosis type 5: novel pathogenic variants and..:

Paiva, Anderson Rodrigues Brandão de ; Pessoa, André Luiz Santos ; Nóbrega, Paulo Ribeiro...
https://discovery.ucl.ac.uk/id/eprint/10166685/2/Lynch_ceroid%20lipofuscinosis%20type%205%2027.06.2022.pdf. , 2023

Link: https://discovery.ucl.ac..

8

Arginase 1 deficiency presenting as complicated hereditary ..:

Freua, Fernando ; Almeida, Mariana Espíndola de Castro ; Nóbrega, Paulo Ribeiro...
https://discovery.ucl.ac.uk/id/eprint/10157124/1/Lynch_Arginase%201%20deficiency%20presenting%20as%20complicated%20hereditary%20spastic%20paraplegia_AAM.pdf. , 2022

Link: https://discovery.ucl.ac..

9

A rare cause of monogenic cerebral small vessel disease and..:

Budhdeo, Sanjay ; de Paiva, Anderson Rodrigues Brandao ; Wade, Charles...
https://discovery.ucl.ac.uk/id/eprint/10153709/2/Wade_CARASAL_report_FINAL_JNeurol_revised.pdf. , 2022

Link: https://discovery.ucl.ac..

10

"Ears of the lynx" sign in hereditary spastic paraplegias i..:

Marussi, Victor Hugo Rocha ; Assis, Bruno Della Ripa Rodrigues ; Freua, Fernando
Arquivos de Neuro-Psiquiatria. 82 (2024) 7 - p. 001-002 , 2024

Link: https://doi.org/10.1055/..

11

A novel complex neurological phenotype due to a homozygous ..:

Gurgel-Giannetti, Juliana ; Lynch, David S ; Paiva, Anderson Rodrigues Brandão de...
Brain. 141 (2018) 8 - p. 2289-2298 , 2018

Link: https://doi.org/10.1093/..

12

Subacute Partially Reversible Leukoencephalopathy Expands t..:

Isabella Peixoto de Barcelos ; Clarissa Bueno ; Luís Filipe S. Godoy...
Molecular and Cellular Neuroscience. , 2023

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

13

Subacute Partially Reversible Leukoencephalopathy Expands t..:

Isabella Peixoto de Barcelos ; Clarissa Bueno ; Luís Filipe S. Godoy...
https://www.mdpi.com/2076-3425/13/8/1169. , 2023

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

14

Quantitative EEG evaluation in patients with acute encephal..:

Aline Souza Marques da Silva Braga ; Bruno Della Ripa Rodrigues Assis ; Jamil Thiago Rosa Ribeiro...
http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X2013001300937&lng=en&tlng=en. , 2013

Link: https://doi.org/10.1590/..

15

A novel complex neurological phenotype due to a homozygous ..:

Gurgel-Giannetti, Juliana ; Lynch, David S ; Brandão de Paiva, Anderson Rodrigues...
https://research.vumc.nl/en/publications/3b2f1a56-1285-4d3b-a136-3d892b733a84. , 2018

Link: https://research.vumc.nl..