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1

A splice-altering homozygous variant in COX18 causes severe..:

Mavillard, Fabiola ; Guerra-Castellano, Alejandra ; Guerrero-Gómez, David...
Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease. , 2024

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

2

The Iberian Roma Population Variant Server (IRPVS):

Mavillard, Fabiola ; Perez-Florido, Javier ; Ortuño, Francisco M....
Journal of Genetics and Genomics. , 2024

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

3

Ablation of the carboxy-terminal end of MAMDC2 causes a dis..:

Mavillard, Fabiola ; Servian-Morilla, Emilia ; Dofash, Lein...
Brain. 146 (2023) 12 - p. 5235-5248 , 2023

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

4

AKLHL403' UTR splice-altering variant causes milder NEM8, a..:

Dofash, Lein N H ; Monahan, Gavin V ; Servián-Morilla, Emilia...
Human Molecular Genetics. 32 (2022) 7 - p. 1127-1136 , 2022

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

5

Bi-allelic loss-of-function OBSCN variants predispose indiv..:

Cabrera-Serrano, Macarena ; Caccavelli, Laure ; Savarese, Marco...
Brain. 145 (2021) 11 - p. 3985-3998 , 2021

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

6

Another step towards defining the genetic landscape of rhab..:

Ravenscroft, Gianina ; Cabrera-Serrano, Macarena
Brain. 144 (2021) 9 - p. 2560-2561 , 2021

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

7

Myoglobinopathy is an adult-onset autosomal dominant myopat..:

Olivé, Montse ; Engvall, Martin ; Ravenscroft, Gianina...
Nature Communications. 10 (2019) 1 - p. , 2019

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

8

Recessive Charcot-Marie-Tooth and multiple sclerosis associ..:

Sedghi, Maryam ; Moslemi, Ali-Reza ; Cabrera-Serrano, Macarena...
Brain Communications. 1 (2019) 1 - p. , 2019

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

9

A Roma founderBIN1mutation causes a novel phenotype of cent..:

Cabrera-Serrano, Macarena ; Mavillard, Fabiola ; Biancalana, Valerie...
Neurology. 91 (2018) 4 - p. , 2018

Link: https://doi.org/10.1212/..

10

Cystinosis distal myopathy, novel clinical, pathological an..:

Cabrera-Serrano, Macarena ; Junckerstorff, Reimar C. ; Alisheri, Ali...
Neuromuscular Disorders. 27 (2017) 9 - p. 873-878 , 2017

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

11

Impact of Hyperglycemia in the Outcome of Patients with Pri..:

Cabrera-Serrano, Macarena ; Fugate, Jennifer E. ; Mandrekar, Jay.
Neurocritical Care. 23 (2015) 1 - p. 103-107 , 2015

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

12

Expanding the phenotype of GMPPB mutations:

Cabrera-Serrano, Macarena ; Ghaoui, Roula ; Ravenscroft, Gianina...
Brain. 138 (2015) 4 - p. 836-844 , 2015

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

13

LRP4 third β-propeller domain mutations cause novel congeni..:

Ohkawara, Bisei ; Cabrera-Serrano, Macarena ; Nakata, Tomohiko...
Human Molecular Genetics. 23 (2013) 7 - p. 1856-1868 , 2013

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

14

Bi-allelic loss-of-function OBSCN variants predispose indiv..:

Cabrera-Serrano, Macarena ; Caccavelli, Laure ; Savarese, Marco...
10.1093/brain/awab484. , 2023

Link: http://hdl.handle.net/10..

15

Bi-allelic loss-of-function OBSCN variants predispose indiv..:

Cabrera-Serrano, Macarena ; Caccavelli, Laure ; Savarese, Marco...
http://hdl.handle.net/10668/19728. , 2022

Link: http://hdl.handle.net/10..

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