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Cabrera-Serrano, Macarena
120
results:
Search for persons
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Online (119)
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Mediatypes
Articles (Online) (77)
Bookchapter (Online) (4)
OpenAccess-fulltext (38)
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spanish (5)
english (106)
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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. 1870 (2024) 7 - p. 167330 , 2024
Link:
https://doi.org/10.1016/..
?
2
A CCG expansion in ABCD3 causes oculopharyngodistal myopath..:
Cortese, Andrea
;
Beecroft, Sarah J.
;
Facchini, Stefano
...
Nature Communications. 15 (2024) 1 - p. , 2024
Link:
https://doi.org/10.1038/..
?
3
The Iberian Roma Population Variant Server (IRPVS):
Mavillard, Fabiola
;
Perez-Florido, Javier
;
Ortuño, Francisco M.
...
Journal of Genetics and Genomics. 51 (2024) 7 - p. 769-773 , 2024
Link:
https://doi.org/10.1016/..
?
4
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/..
?
5
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/..
?
6
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/..
?
7
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/..
?
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
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/..
?
10
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/..
?
11
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/..
?
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
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/..
?
14
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/..
?
15
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..
1-15
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