E-LIB Suche - Ergebnisse für: Macedo-Souza, Lúcia Inês

1

MECP2-related conditions in males: A systematic literature ..:

Inuzuka, Luciana Midori ; Guerra-Peixe, Matheus ; Macedo-Souza, Lúcia Inês...
European Journal of Paediatric Neurology. 34 (2021) - p. 7-13 , 2021

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

2

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/..

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

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/..

5

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/..

6

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/..

7

Clinical and genetic characterization of leukoencephalopath..:

Lynch, David S. ; Rodrigues Brandão de Paiva, Anderson ; Zhang, Wei Jia...
Brain. 140 (2017) 5 - p. 1204-1211 , 2017

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

8

A novel GFAP mutation in a type II (late-onset) Alexander d..:

de Paiva, Anderson Rodrigues Brandão ; Freua, Fernando ; Lucato, Leandro Tavares...
Journal of Neurology. 263 (2016) 4 - p. 821-822 , 2016

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

9

Nerve conduction studies in spastic paraplegia, optic atrop..:

Amorim, Simone ; Heise, Carlos Otto ; Santos, Silvana...
Muscle & Nerve. 49 (2013) 1 - p. 131-133 , 2013

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

10

Reevaluation of a large family defines a new locus for X-li..:

Macedo-Souza, Lúcia Inês ; Kok, Fernando ; Santos, Silvana...
neurogenetics. 9 (2008) 3 - p. , 2008

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

11

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..

12

Arginase 1 deficiency presenting as complicated hereditary ..:

Freua, Fernando ; Almeida, Mariana Espíndola de Castro ; Nóbrega, Paulo Ribeiro...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9632362/. , 2022

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

13

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..

14

PUS3 mutations are associated with intellectual disability,..:

de Paiva, Anderson Rodrigues Brandão ; Lynch, David S ; Melo, Uirá Souto...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6340380/. , 2019

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

15

Typical clinical and neuroimaging features in Sjögren-Larss..:

Paiva, Anderson Rodrigues Brandão de ; Melo, Uirá Souto ; Freua, Fernando...
10.1590/0004-282x20180024. , 2018

Link: http://www.scielo.br/sci..