E-LIB Suche - Ergebnisse für: Tomaselli, Pedro J

1

Best practice guidelines on genetic diagnostics of faciosca..:

Giardina, Emiliano ; Camaño, Pilar ; Burton‐Jones, Sarah...
Clinical Genetics. , 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

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/..

4

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/..

5

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/..

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

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/..

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

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/..

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

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/..

14

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/..

15

IGHMBP2 mutation associated with organ-specific autonomic d..:

Tomaselli, Pedro J. ; Horga, Alejandro ; Rossor, Alexander M....
Neuromuscular Disorders. 28 (2018) 12 - p. 1012-1015 , 2018

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