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1

Distal hereditary motor neuronopathy as a new phenotype ass..:

de Fuenmayor-Fernández de la Hoz, Carlos Pablo ; Lupo, Vincenzo ; Bermejo-Guerrero, Laura...
Journal of Neurology. , 2023

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

2

Serum GDF-15 Levels Accurately Differentiate Patients with ..:

Bermejo-Guerrero, Laura ; de Fuenmayor-Fernández de la Hoz, Carlos Pablo ; Guerrero-Molina, María Paz...
Journal of Clinical Medicine. 12 (2023) 6 - p. 2435 , 2023

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

3

Delayed Diagnosis of Congenital Myasthenic Syndromes Errone..:

Muñoz-García, Mariana I. ; Guerrero-Molina, María Paz ; de Fuenmayor-Fernández de la Hoz, Carlos Pablo...
Journal of Clinical Medicine. 12 (2023) 9 - p. 3308 , 2023

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

4

Metrics of progression and prognosis in untreated adults wi..:

Domínguez-González, Cristina ; Hernández-Voth, Ana ; de Fuenmayor-Fernández de la Hoz, Carlos Pablo...
Neuromuscular Disorders. 32 (2022) 9 - p. 728-735 , 2022

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

5

Muscle MRI characteristic pattern for late-onset TK2 defici..:

Domínguez-González, Cristina ; Fernández-Torrón, Roberto ; Moore, Ursula...
Journal of Neurology. 269 (2022) 7 - p. 3550-3562 , 2022

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

6

Clinical, Histological, and Genetic Features of 25 Patients..:

Bermejo-Guerrero, Laura ; de Fuenmayor-Fernández de la Hoz, Carlos Pablo ; Serrano-Lorenzo, Pablo...
Journal of Clinical Medicine. 11 (2021) 1 - p. 22 , 2021

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

7

Recurrent rhabdomyolysis and exercise intolerance: A new ph..:

de Fuenmayor-Fernández de la Hoz, Carlos Pablo ; Morís, Germán ; Jiménez-Mallebrera, Cecilia...
Molecular Genetics and Metabolism Reports. 26 (2021) - p. 100701 , 2021

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

8

Persistent asymptomatic or mild symptomatic hyperCKemia due..:

Panadés-de Oliveira, Luísa ; Bermejo-Guerrero, Laura ; de Fuenmayor-Fernández de la Hoz, Carlos Pablo...
Journal of Neurology. 267 (2020) 9 - p. 2546-2555 , 2020

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

9

Acute hypokinetic-rigid syndrome following SARS-CoV-2 infec..:

Méndez-Guerrero, Antonio ; Laespada-García, María Isabel ; Gómez-Grande, Adolfo...
Neurology. 95 (2020) 15 - p. , 2020

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

10

Adult-onset distal spinal muscular atrophy: a new phenotype..:

de Fuenmayor-Fernández de la Hoz, Carlos Pablo ; Hernández-Laín, Aurelio ; Olivé, Montse...
Brain. 142 (2019) 12 - p. e66-e66 , 2019

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

11

A milder phenotype of megaconial congenital muscular dystro..:

De Fuenmayor-Fernández De La Hoz, Carlos Pablo ; Domínguez-González, Cristina ; Gonzalo-Martínez, Juan Francisco...
Muscle & Nerve. 54 (2016) 4 - p. 806-808 , 2016

Link: https://doi.org/10.1002/..

12

Novel mutation in TCAP manifesting with asymmetric calves a..:

de Fuenmayor-Fernández de la Hoz, Carlos Pablo ; Hernández-Laín, Aurelio ; Olivé, Montse..
Neuromuscular Disorders. 26 (2016) 11 - p. 749-753 , 2016

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

13

Distal myopathy due to digenic inheritance of TIA1 and SQST..:

Bermejo-Guerrero, Laura ; de Fuenmayor Fernández-de la Hoz, Carlos Pablo ; González-Quereda, Lidia...
Neuromuscular Disorders. 33 (2023) 12 - p. 983-987 , 2023

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

14

Serum GDF-15 Levels Accurately Differentiate Patients with ..:

Bermejo-Guerrero, Laura ; de Fuenmayor-Fernández de la Hoz, Carlos Pablo ; Guerrero-Molina, María Paz...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10059275/. , 2023

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

15

Muscle MRI characteristic pattern for late-onset TK2 defici..:

Domínguez-González, Cristina ; Fernández-Torrón, Roberto ; Moore, Ursula...
Instituto de Salud Carlos III PI18/01374. , 2022

Link: https://ddd.uab.cat/reco..

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