E-LIB Suche - Ergebnisse für: Melo-Pires, Manuel

1

Neuropathology of central nervous system involvement in TTR..:

Taipa, Ricardo ; Sousa, Luísa ; Pinto, Miguel...
Acta Neuropathologica. 145 (2022) 1 - p. 113-126 , 2022

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

2

Intellectual disability genomics: current state, pitfalls a..:

Maia, Nuno ; Nabais Sá, Maria João ; Melo-Pires, Manuel..
BMC Genomics. 22 (2021) 1 - p. , 2021

Link: https://doi.org/10.1186/..

3

Two Compound Heterozygous Variants in SNX14 Cause Stereotyp..:

Maia, Nuno ; Soares, Gabriela ; Silva, Cecília...
Frontiers in Genetics. 11 (2020) - p. , 2020

Link: https://doi.org/10.3389/..

4

McArdle's disease: Diagnostic approach after clinical sympt..:

Ganhão, Sara ; Mariz, Eva ; Melo-Pires, Manuel..
Revista Colombiana de Reumatología (English Edition). 27 (2020) 1 - p. 65-67 , 2020

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

5

Clinicopathological correlations of sural nerve biopsies in..:

Fernandes, Armindo ; Coelho, Teresa ; Rodrigues, Aurora...
Brain Communications. 1 (2019) 1 - p. , 2019

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

6

Exonization of an Intronic LINE-1 Element Causing Becker Mu..:

Gonçalves, Ana ; Oliveira, Jorge ; Coelho, Teresa...
Genes. 8 (2017) 10 - p. 253 , 2017

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

7

DJ-1 linked parkinsonism (PARK7) is associated with Lewy bo..:

Magalhães, Marina ; Melo-Pires, Manuel ; Bastos-Lima, António...
Brain. 139 (2016) 6 - p. 1680-1687 , 2016

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

8

New massive parallel sequencing approach improves the genet..:

Oliveira, Jorge ; Gonçalves, Ana ; Taipa, Ricardo...
Journal of Human Genetics. 61 (2016) 6 - p. 497-505 , 2016

Link: https://doi.org/10.1038/..

9

New splicing mutation in the choline kinase beta (CHKB) gen..:

Oliveira, Jorge ; Negrão, Luís ; Fineza, Isabel...
Journal of Human Genetics. 60 (2015) 6 - p. 305-312 , 2015

Link: https://doi.org/10.1038/..

10

PARK2 presenting as a disabling peripheral axonal neuropath:

Domingos, Joana ; Coelho, Teresa ; Taipa, Ricardo...
Neurological Sciences. 36 (2014) 2 - p. 341-343 , 2014

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

11

Acute Ischemic Stroke Secondary to Glioblastoma: A Case Rep..:

Pina, Sofia ; Carneiro, Ângelo ; Rodrigues, Tiago...
The Neuroradiology Journal. 27 (2014) 1 - p. 85-90 , 2014

Link: https://doi.org/10.15274..

12

Hereditary Neuropathy with Liability to Pressure Palsy: A R..:

Flor-de-Lima, Filipa ; Macedo, Liliana ; Taipa, Ricardo..
Case Reports in Pediatrics. 2013 (2013) - p. 1-5 , 2013

Link: https://doi.org/10.1155/..

13

Multiple cerebral infarcts and intravascular central nervou..:

Cruto, Catarina ; Taipa, Ricardo ; Monteiro, Cecília...
Journal of the Neurological Sciences. 325 (2013) 1-2 - p. 183-185 , 2013

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

14

Clinico-Pathological Correlations of the Most Common Neurod..:

Taipa, Ricardo ; Pinho, João ; Melo-Pires, Manuel
Frontiers in Neurology. 3 (2012) - p. , 2012

Link: https://doi.org/10.3389/..

15

Neuropathology of central nervous system involvement in TTR..:

Taipa, Ricardo ; Sousa, Luísa ; Pinto, Miguel...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9807485/. , 2022

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