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Horga, Alejandro
49  results:
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1

Expanding the Clinical Spectrum ofDRP2-Associated Charcot-M..:

Sivera, Rafael ; Pelayo-Negro, Ana L. ; Jericó, Ivonne...
Neurology.  102 (2024)  7 - p. , 2024
Link: https://doi.org/10.1212/..
 
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2

RTN2 deficiency results in an autosomal recessive distal mo..:

Maroofian, Reza ; Sarraf, Payam ; O'Brien, Thomas J...
Brain.  147 (2024)  7 - p. 2334-2343 , 2024
Link: https://doi.org/10.1093/..
 
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3

Factors associated with the severity of COVID‐19 outcomes i..:

Pizzamiglio, Chiara ; Pitceathly, Robert D. S. ; Lunn, Michael P....
European Journal of Neurology.  30 (2022)  2 - p. 399-412 , 2022
Link: https://doi.org/10.1111/..
 
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4

Bi-allelic LETM1 variants perturb mitochondrial ion homeost..:

Kaiyrzhanov, Rauan ; Mohammed, Sami E.M. ; Maroofian, Reza...
The American Journal of Human Genetics.  109 (2022)  9 - p. 1692-1712 , 2022
Link: https://doi.org/10.1016/..
 
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5

Functional neurological symptoms as initial presentation of..:

Gómez-Mayordomo, Víctor ; Kojović, Maja ; López-Valdés, Eva...
Journal of Neurology.  270 (2022)  2 - p. 1141-1146 , 2022
Link: https://doi.org/10.1007/..
 
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6

Neurological presentations of COVID-19: Findings from the S..:

García-Azorín, David ; Abildúa, María José Abenza ; Aguirre, María Elena Erro...
Journal of the Neurological Sciences.  423 (2021)  - p. 117283 , 2021
Link: https://doi.org/10.1016/..
 
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7

Mitochondrial disease and COVID-19: An international cohort..:

Pizzamiglio, Chiara ; Jonvik, Hallgeir ; Brady, Stefen...
Journal of the Neurological Sciences.  429 (2021)  - p. 119358 , 2021
Link: https://doi.org/10.1016/..
 
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8

Uniparental isodisomy of chromosome 2 causing MRPL44-relate..:

Horga, Alejandro ; Manole, Andreea ; Mitchell, Alice L....
Molecular Biology Reports.  48 (2021)  3 - p. 2093-2104 , 2021
Link: https://doi.org/10.1007/..
 
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9

Cerebellar ataxia, neuropathy, vestibular areflexia syndrom..:

Cortese, Andrea ; Tozza, Stefano ; Yau, Wai Yan...
Brain.  143 (2020)  2 - p. 480-490 , 2020
Link: https://doi.org/10.1093/..
 
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10

De Novo and Bi-allelic Pathogenic Variants in NARS1 Cause N..:

Manole, Andreea ; Efthymiou, Stephanie ; O'Connor, Emer...
The American Journal of Human Genetics.  107 (2020)  2 - p. 311-324 , 2020
Link: https://doi.org/10.1016/..
 
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11

Paroxysmal headache with extracephalic irradiation: Proposa..:

Gutiérrez-Sánchez, María ; García-Azorín, David ; Gutiérrez-Viedma, Álvaro...
Cephalalgia.  40 (2020)  9 - p. 959-965 , 2020
Link: https://doi.org/10.1177/..
 
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12

Differential phenotypic expression of a novel PDHA1 mutatio..:

Horga, Alejandro ; Woodward, Catherine E. ; Mills, Alberto...
Human Genetics.  138 (2019)  11-12 - p. 1313-1322 , 2019
Link: https://doi.org/10.1007/..
 
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13

IGHMBP2 mutation associated with organ-specific autonomic d..:

Tomaselli, Pedro J. ; Horga, Alejandro ; Rossor, Alexander M....
Neuromuscular Disorders.  28 (2018)  12 - p. 1012-1015 , 2018
Link: https://doi.org/10.1016/..
 
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14

Mutations in noncoding regions ofGJB1are a major cause of X..:

Tomaselli, Pedro J. ; Rossor, Alexander M. ; Horga, Alejandro...
Neurology.  88 (2017)  15 - p. 1445-1453 , 2017
Link: https://doi.org/10.1212/..
 
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15

A de novo dominant mutation in KIF1A associated with axonal..:

Tomaselli, Pedro J. ; Rossor, Alexander M. ; Horga, Alejandro...
Journal of the Peripheral Nervous System.  22 (2017)  4 - p. 460-463 , 2017
Link: https://doi.org/10.1111/..
 
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