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Alejandro Horga

Showing results (31-40 of 39) with videos related to

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Neurology. Genetics|May 17, 2017
Clinicopathologic and molecular spectrum of <i>RNASEH1</i>-related mitochondrial diseaseEnrico Bugiardini, Olivia V Poole, Andreea Manole, et al.
Brain : a Journal of Neurology|October 21, 2017
Clinical, pathological and functional characterization of riboflavin-responsive neuropathyAndreea Manole, Zane Jaunmuktane, Iain Hargreaves, et al.
Brain : a Journal of Neurology|March 25, 2024
RTN2 deficiency results in an autosomal recessive distal motor neuropathy with lower limb spasticityReza Maroofian, Payam Sarraf, Thomas J O'Brien, et al.
American Journal of Human Genetics|December 3, 2014
Truncating and missense mutations in IGHMBP2 cause Charcot-Marie Tooth disease type 2Ellen Cottenie, Andrzej Kochanski, Albena Jordanova, et al.
Brain : a Journal of Neurology|February 11, 2020
Cerebellar ataxia, neuropathy, vestibular areflexia syndrome due to RFC1 repeat expansionAndrea Cortese, Stefano Tozza, Wai Yan Yau, et al.
Neurology(R) Neuroimmunology & Neuroinflammation|June 23, 2026
Specific HLA-DRB1 Alleles Associate With Anti-Caspr1 and Anti-CNTN1 Autoantibodies in Autoimmune NodopathiesCinta Lleixà, Elba Pascual-Goñi, Lorena Martín-Aguilar, et al.
Annals of Neurology|November 27, 2024
Long-Term Follow Up in Anti-Contactin-1 Autoimmune NodopathyMarta Caballero-Ávila, Lorena Martín-Aguilar, Elba Pascual-Goñi, et al.
American Journal of Human Genetics|September 2, 2022
Bi-allelic LETM1 variants perturb mitochondrial ion homeostasis leading to a clinical spectrum with predominant nervous system involvementRauan Kaiyrzhanov, Sami E M Mohammed, Reza Maroofian, et al.
American Journal of Human Genetics|August 2, 2020
De Novo and Bi-allelic Pathogenic Variants in NARS1 Cause Neurodevelopmental Delay Due to Toxic Gain-of-Function and Partial Loss-of-Function EffectsAndreea Manole, Stephanie Efthymiou, Emer O'Connor, et al.
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Showing results (31-40 of 39) with videos related to

Sort By:
Pageof 4
You have reached the last page of results.This site can display upto 39 results.
Neurology. Genetics|May 17, 2017
Clinicopathologic and molecular spectrum of <i>RNASEH1</i>-related mitochondrial diseaseEnrico Bugiardini, Olivia V Poole, Andreea Manole, et al.
Brain : a Journal of Neurology|October 21, 2017
Clinical, pathological and functional characterization of riboflavin-responsive neuropathyAndreea Manole, Zane Jaunmuktane, Iain Hargreaves, et al.
Brain : a Journal of Neurology|March 25, 2024
RTN2 deficiency results in an autosomal recessive distal motor neuropathy with lower limb spasticityReza Maroofian, Payam Sarraf, Thomas J O'Brien, et al.
American Journal of Human Genetics|December 3, 2014
Truncating and missense mutations in IGHMBP2 cause Charcot-Marie Tooth disease type 2Ellen Cottenie, Andrzej Kochanski, Albena Jordanova, et al.
Brain : a Journal of Neurology|February 11, 2020
Cerebellar ataxia, neuropathy, vestibular areflexia syndrome due to RFC1 repeat expansionAndrea Cortese, Stefano Tozza, Wai Yan Yau, et al.
Neurology(R) Neuroimmunology & Neuroinflammation|June 23, 2026
Specific HLA-DRB1 Alleles Associate With Anti-Caspr1 and Anti-CNTN1 Autoantibodies in Autoimmune NodopathiesCinta Lleixà, Elba Pascual-Goñi, Lorena Martín-Aguilar, et al.
Annals of Neurology|November 27, 2024
Long-Term Follow Up in Anti-Contactin-1 Autoimmune NodopathyMarta Caballero-Ávila, Lorena Martín-Aguilar, Elba Pascual-Goñi, et al.
American Journal of Human Genetics|September 2, 2022
Bi-allelic LETM1 variants perturb mitochondrial ion homeostasis leading to a clinical spectrum with predominant nervous system involvementRauan Kaiyrzhanov, Sami E M Mohammed, Reza Maroofian, et al.
American Journal of Human Genetics|August 2, 2020
De Novo and Bi-allelic Pathogenic Variants in NARS1 Cause Neurodevelopmental Delay Due to Toxic Gain-of-Function and Partial Loss-of-Function EffectsAndreea Manole, Stephanie Efthymiou, Emer O'Connor, et al.
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