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Tomaselli, Pedro
81
results:
Search for persons
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Format
Online (81)
Mediatypes
Articles (Online) (40)
Bookchapter (Online) (1)
OpenAccess-fulltext (40)
Languages
english (70)
spanish (5)
Sorted by: Relevance
Sorted by: Year
?
1
Best practice guidelines on genetic diagnostics of faciosca..:
Giardina, Emiliano
;
Camaño, Pilar
;
Burton‐Jones, Sarah
...
Clinical Genetics. 106 (2024) 1 - p. 13-26 , 2024
Link:
https://doi.org/10.1111/..
?
2
Genetic landscape of congenital insensitivity to pain and h..:
Lischka, Annette
;
Eggermann, Katja
;
Record, Christopher J
...
Brain. 146 (2023) 12 - p. 4880-4890 , 2023
Link:
https://doi.org/10.1093/..
?
3
Neurological Manifestations in ATTRv Amyloidosis:
, In:
Amyloidosis and Fabry Disease
,
Nascimento, Osvaldo J. M.
;
Marques Jr, Wilson
;
Tomaselli, Pedro
. - p. 5-17 , 2023
Link:
https://doi.org/10.1007/..
?
4
Normal and pathogenic variation of RFC1 repeat expansions: ..:
Dominik, Natalia
;
Magri, Stefania
;
Currò, Riccardo
...
Brain. 146 (2023) 12 - p. 5060-5069 , 2023
Link:
https://doi.org/10.1093/..
?
5
Biallelic variants in COQ7 cause distal hereditary motor ne..:
Rebelo, Adriana P
;
Tomaselli, Pedro J
;
Medina, Jessica
...
Brain. 146 (2023) 10 - p. 4191-4199 , 2023
Link:
https://doi.org/10.1093/..
?
6
Autosomal Recessive Cerebellar Ataxias in South America: A ..:
Gama, Maria Thereza D.
;
Braga‐Neto, Pedro
;
Rangel, Deborah M.
...
Movement Disorders. 37 (2022) 8 - p. 1773-1774 , 2022
Link:
https://doi.org/10.1002/..
?
7
Primary neural leprosy: clinical, neurophysiological and pa..:
Tomaselli, Pedro J
;
dos Santos, Diogo F
;
dos Santos, André C J
...
Brain. 145 (2021) 4 - p. 1499-1506 , 2021
Link:
https://doi.org/10.1093/..
?
8
Loss of Function, Loss of Pain? Novel Variants in SCN9A to ..:
Cintra, Vivian Pedigone
;
Dohrn, Maike
;
Tomaselli, Pedro
...
Neurology. 96 (2021) 15_supplement - p. , 2021
Link:
https://doi.org/10.1212/..
?
9
Cerebellar ataxia, neuropathy, vestibular areflexia syndrom..:
Cortese, Andrea
;
Tozza, Stefano
;
Yau, Wai Yan
...
Brain. 143 (2020) 2 - p. 480-490 , 2020
Link:
https://doi.org/10.1093/..
?
10
High glucose level as a modifier factor in CMT1A patients:
Secchin, Juliana B.
;
Leal, Rita C. C.
;
Lourenço, Charles M.
...
Journal of the Peripheral Nervous System. 25 (2020) 2 - p. 132-137 , 2020
Link:
https://doi.org/10.1111/..
?
11
Targeted next-generation sequencing panels in the diagnosis..:
Cortese, Andrea
;
Wilcox, Janel E.
;
Polke, James M.
...
Neurology. 94 (2020) 1 - p. , 2020
Link:
https://doi.org/10.1212/..
?
12
New novel mutations in Brazilian families with X‐linked Cha..:
Gouvea, Silmara P.
;
Tomaselli, Pedro J.
;
Barretto, Luiza S.
...
Journal of the Peripheral Nervous System. 24 (2019) 2 - p. 207-212 , 2019
Link:
https://doi.org/10.1111/..
?
13
Biallelic expansion of an intronic repeat in RFC1 is a comm..:
Cortese, Andrea
;
Simone, Roberto
;
Sullivan, Roisin
...
Nature Genetics. 51 (2019) 4 - p. 649-658 , 2019
Link:
https://doi.org/10.1038/..
?
14
Author Correction: Biallelic expansion of an intronic repea..:
Cortese, Andrea
;
Simone, Roberto
;
Sullivan, Roisin
...
Nature Genetics. 51 (2019) 5 - p. 920-920 , 2019
Link:
https://doi.org/10.1038/..
?
15
The genetic heterogeneity of hereditary transthyretin amylo..:
Lavigne‐Moreira, Carolina
;
Marques, Vanessa D.
;
Gonçalves, Marcus V. M.
...
Journal of the Peripheral Nervous System. 23 (2018) 2 - p. 134-137 , 2018
Link:
https://doi.org/10.1111/..
1-15