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Fuenmayor‐Fernández de la Hoz, Carlos Pablo de
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1

Adult‐onset nemaline myopathy due to a novel homozygous var..:

Martín‐Jiménez, Paloma ; Fuenmayor‐Fernández de la Hoz, Carlos Pablo de ; Hernández‐Laín, Aurelio...
Muscle & Nerve.  66 (2022)  4 - p. , 2022
Link: https://doi.org/10.1002/..
 
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2

SOD1 mutations in adult‐onset distal spinal muscular atroph:

de Fuenmayor‐Fernández de la Hoz, Carlos Pablo ; Hernández‐Laín, Aurelio ; Olivé, Montse...
European Journal of Neurology.  27 (2020)  11 - p. , 2020
Link: https://doi.org/10.1111/..
 
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3

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/..
 
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4

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/..
 
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5

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/..
 
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6

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/..
 
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7

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/..
 
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8

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/..
 
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9

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/..
 
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10

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/..
 
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11

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/..
 
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12

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/..
 
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13

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/..
 
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14

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/..
 
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15

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...
 
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