E-LIB Suche - Ergebnisse für: França, Marcondes C.

1

Progressive Spinal Cord Degeneration in Friedreich's Ataxia..:

Rezende, Thiago J R ; Adanyeguh, Isaac M ; Göricke, Sophia L...
info:eu-repo/semantics/altIdentifier/pmid/pmid:36308733. , 2023

Link: https://pub.dzne.de/reco..

2

Progressive spinal cord degeneration in Friedreich's ataxia..:

Rezende, Thiago JR ; Adanyeguh, Isaac M ; Arrigoni, Filippo...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9852007/. , 2023

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

3

Recurrent de novo SPTLC2 variant causes childhood-onset amy..:

Syeda, Safoora B ; Lone, Museer A ; Mohassel, Payam...
https://discovery.ucl.ac.uk/id/eprint/10183851/1/jnnp-2023-332132.full.pdf. , 2023

Link: https://discovery.ucl.ac..

4

Frequency of GAA-FGF14 Ataxia in a Large Cohort of Brazilia..:

Novis, Luiz Eduardo ; Frezatti, Rodrigo S ; Pellerin, David...
https://discovery.ucl.ac.uk/id/eprint/10176274/1/Houlden_Frequency%20of%20GAA-FGF14%20Ataxia%20in%20a%20Large%20Cohort%20of%20Brazilian%20Patients%20With%20Unsolved%20Adult-Onset%20Cerebellar%20Ataxia_VoR.pdf. , 2023

Link: https://discovery.ucl.ac..

5

A natural history study to track brain and spinal cord chan..:

Georgiou-Karistianis, Nellie ; Corben, Louise A ; França, Marcondes C...
info:eu-repo/semantics/altIdentifier/issn/1932-6203. , 2022

Link: https://publications.rwt..

6

Clinical management guidelines for Friedreich ataxia: best ..:

Corben, Louise A ; Collins, Veronica ; Milne, Sarah...
uri/info:doi/10.1186/s13023-022-02568-3. , 2022

Link: http://hdl.handle.net/20..

7

Brain Structure and Degeneration Staging in Friedreich Atax..:

Harding, Ian H ; Chopra, Sidhant ; Arrigoni, Filippo...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9292360/. , 2021

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

8

Brain Structure and Degeneration Staging in Friedreich Atax..:

Harding, Ian H ; Chopra, Sidhant ; Dogan, Imis...
info:eu-repo/semantics/altIdentifier/issn/0364-5134. , 2021

Link: https://juser.fz-juelich..

9

Brain Structure and Degeneration Staging in Friedreich Atax..:

Harding, Ian H ; Chopra, Sidhant ; Dogan, Imis...
info:eu-repo/semantics/altIdentifier/doi/10.18154/RWTH-CONV-248206. , 2021

Link: https://publications.rwt..

10

The Latin American experience with a next generation sequen..:

Bevilacqua, Jorge ; Guecaimburu Ehuletche, María del Rosario ; Perna, Abayuba...
Orphanet Journal of Rare Diseases (2020) 15:11. , 2020

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

11

Allgrove syndrome and motor neuron disease:

de Freitas, Marcos R.G ; Orsini, Marco ; Araújo, Alexandra Prufer de Queiroz Campos...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6050446/. , 2018

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

12

Current concepts in the treatment of hereditary ataxias:

Braga-Neto, Pedro ; Pedroso, José Luiz ; Kuo, Sheng-Han...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6089349/. , 2016

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

13

Diffuse Decreased Gray Matter in Patients with Idiopathic C..:

Piccinin, Camila C ; Piovesana, Luiza G ; Santos, Maria C. A...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC. , 2015

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

14

White Matter Microstructure in Idiopathic Craniocervical Dy..:

Pinheiro, Giordanna L. S ; Guimarães, Rachel P ; Piovesana, Luiza G...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4454992/. , 2015

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

15

Porphyria and anorexia: cause and effect:

Martins, Carlos R ; Bandeira, Barbara E.S ; Martinez, Alberto R.M..
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4370022/. , 2014

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