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Macedo‐Souza, Lúcia Inês
21
results:
Search for persons
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Format
Online (21)
Mediatypes
Articles (Online) (15)
OpenAccess-fulltext (6)
Sorted by: Relevance
Sorted by: Year
?
1
ATP6V1B2‐related epileptic encephalopathy:
Inuzuka, Luciana Midori
;
Macedo‐Souza, Lúcia Inês
;
Della‐Rippa, Bruno
...
Epileptic Disorders. 22 (2020) 3 - p. 317-322 , 2020
Link:
https://doi.org/10.1684/..
?
2
Inferring paternal history of rural African‐derived Brazili..:
Kimura, Lilian
;
Nunes, Kelly
;
Macedo‐Souza, Lúcia Inês
...
American Journal of Human Biology. 29 (2016) 2 - p. , 2016
Link:
https://doi.org/10.1002/..
?
3
Spastic Paraplegia, Optic Atrophy, and Neuropathy: New Obse..:
Macedo‐Souza, Lúcia Inês
;
Kok, Fernando
;
Santos, Silvana
...
Annals of Human Genetics. 73 (2009) 3 - p. 382-387 , 2009
Link:
https://doi.org/10.1111/..
?
4
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/..
?
5
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/..
?
6
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/..
?
7
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/..
?
8
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/..
?
9
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/..
?
10
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/..
?
11
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/..
?
12
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/..
?
13
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/..
?
14
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..
?
15
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..
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