Suchergebnisse - "Rebelo, Adriana P"

PubPharm (54)

1

Sord deficient rats develop a motor-predominant peripheral neuropathy unveiling novel pathophysiological insights

enthalten in: bioRxiv.org | 2024

von Rebelo, A. | Abad, C. | Dohrn, M. | +11

2

Recurrent ATP1A1 variant Gly903Arg causes developmental delay, intellectual disability, and autism

enthalten in: Annals of clinical and translational neurology | 2024

von Dohrn, M. | Bademci, G. | Rebelo, A. | +110

3

A study concept of expeditious clinical enrollment for genetic modifier studies in Charcot-Marie-Tooth neuropathy 1A

enthalten in: Journal of the peripheral nervous system : JPNS | 2024

von Xu, I. | Danzi, M. | Ruiz, A. | +19

4

SORD-deficient rats develop a motor-predominant peripheral neuropathy unveiling novel pathophysiological insights

enthalten in: Brain : a journal of neurology | 2024

von Rebelo, A. | Abad, C. | Dohrn, M. | +11

UpdateOf: bioRxiv. 2023 Dec 07;:. - PMID 38106042

5

Recurrent ATP1A1 variant Gly903Arg causes developmental delay, intellectual disability, and autism

enthalten in: Annals of Clinical and Translational Neurology | 2024

von Dohrn, M. | Bademci, G. | Rebelo, A. | +9

6

Sord deficient rats develop a motor-predominant peripheral neuropathy unveiling novel pathophysiological insights

enthalten in: bioRxiv : the preprint server for biology | 2023

von Rebelo, A. | Abad, C. | Dohrn, M. | +11

UpdateIn: Brain. 2024 Mar 27;:. - PMID 38538210

7

Biallelic variants in COQ7 cause distal hereditary motor neuropathy with upper motor neuron signs

enthalten in: Brain : a journal of neurology | 2023

von Rebelo, A. | Tomaselli, P. | Medina, J. | +23

CommentIn: Brain. 2023 Sep 06;:. - PMID 37671546

8

Deep structured learning for variant prioritization in Mendelian diseases

enthalten in: Nature communications | 2023

von Danzi, M. | Dohrn, M. | Fazal, S. | +4

9

Sorbitol reduction via govorestat ameliorates synaptic dysfunction and neurodegeneration in sorbitol dehydrogenase deficiency

enthalten in: JCI insight | 2023

von Zhu, Y. | Lobato, A. | Rebelo, A. | +11

10

The phenotypic spectrum of pathogenic ATP1A1 variants expands : the novel p.P600R substitution causes demyelinating Charcot-Marie-Tooth disease

enthalten in: Journal of neurology | 2023

von Cinarli Yuksel, F. | Nicolaou, P. | Spontarelli, K. | +8

1
2
3
4
5
6
Nächster »
[6]