ADOLFO JOSE
LOPEZ DE MUNAIN ARREGUI
PROFESORADO ASOCIADO
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Institut d'Investigació Biomédica de Bellvitge
Barcelona, EspañaPublicaciones en colaboración con investigadoras/es de Institut d'Investigació Biomédica de Bellvitge (6)
2023
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Frequency and phenotypic spectrum of spinocerebellar ataxia 27B and other genetic ataxias in a Spanish cohort of late-onset cerebellar ataxia
European Journal of Neurology, Vol. 30, Núm. 12, pp. 3828-3833
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Spastic Paraplegia Type 7 (SPG7)
Essentials of Cerebellum and Cerebellar Disorders: A Primer For Graduate Students, Second Edition (Springer International Publishing), pp. 691-695
2022
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Diagnosis of Genetic White Matter Disorders by Singleton Whole-Exome and Genome Sequencing Using Interactome-Driven Prioritization
Neurology, Vol. 98, Núm. 9, pp. E912-E923
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Efficacy and safety clinical trial with efavirenz in patients diagnosed with adult Niemann-pick type C with cognitive impairment
Medicine (United States), Vol. 101, Núm. 48, pp. E31471
2021
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Patient-specific iPSC-derived cellular models of LGMDR1
Stem Cell Research, Vol. 53
2020
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Phenotypic correlations in a large single-center cohort of patients with BSCL2 nerve disorders: a clinical, neurophysiological and muscle magnetic resonance imaging study
European Journal of Neurology, Vol. 27, Núm. 8, pp. 1364-1373