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Movement Disorders Clinical Practice
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February 10, 2022
Biallelic Loss-of-Function <i>NDUFA12</i> Variants Cause a Wide Phenotypic Spectrum from Leigh/Leigh-Like Syndrome to Isolated Optic Atrophy
Francesca Magrinelli, Elisa Cali, Vinícius Lopes Braga, et al.
Brain Communications
|
October 10, 2025
Biallelic <i>NDUFA9</i> variants cause a progressive neurodevelopmental disorder with prominent dystonia and mitochondrial complex I deficiency
Francesca Magrinelli, Lucie S Taylor, Sahar Sedighzadeh, et al.
European Journal of Human Genetics : EJHG
|
October 18, 2023
Mobile element insertions in rare diseases: a comparative benchmark and reanalysis of 60,000 exome samples
Robin Wijngaard, German Demidov, Luke O'Gorman, et al.
European Journal of Human Genetics : EJHG
|
November 17, 2023
Correction: Mobile element insertions in rare diseases: a comparative benchmark and reanalysis of 60,000 exome samples
Robin Wijngaard, German Demidov, Luke O'Gorman, et al.
Medrxiv : the Preprint Server for Health Sciences
|
May 19, 2025
Pathogenic variants in <i>BORCS5</i> Cause a Spectrum of Neurodevelopmental and Neurodegenerative Disorders with Lysosomal Dysfunction
Niccolò E Mencacci, Georgia Minakaki, Reza Maroofian, et al.
Brain : a Journal of Neurology
|
May 10, 2021
RFC1 expansions are a common cause of idiopathic sensory neuropathy
Riccardo Currò, Alessandro Salvalaggio, Stefano Tozza, et al.
Annals of Neurology
|
June 20, 2025
Deep Brain Stimulation for VPS16-Related Dystonia: A Multicenter Study
Tatiana Svorenova, Luigi M Romito, Ahmet Kaymak, et al.
The Journal of Clinical Investigation
|
April 21, 2026
Pathogenic variants in BORCS5 Cause a Spectrum of Neurodevelopmental and Neurodegenerative Disorders with Lysosomal Dysfunction
Niccolò E Mencacci, Georgia Minakaki, Reza Maroofian, et al.
NPJ Parkinson'S Disease
|
March 30, 2024
Genotype-phenotype correlation in PRKN-associated Parkinson's disease
Poornima Jayadev Menon, Sara Sambin, Baptiste Criniere-Boizet, et al.
Movement Disorders : Official Journal of the Movement Disorder Society
|
January 19, 2026
International Registry of NKX2-1-Related Disorders: Clinical, Genetic, and Imaging Perspectives
Laia Nou-Fontanet, Claudia Ravelli, Lydie Burglen, et al.
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Search research articles
Search
Showing results (71-80 of 83) with videos related to
Sort By:
Page
of 9
Movement Disorders Clinical Practice
|
February 10, 2022
Biallelic Loss-of-Function <i>NDUFA12</i> Variants Cause a Wide Phenotypic Spectrum from Leigh/Leigh-Like Syndrome to Isolated Optic Atrophy
Francesca Magrinelli, Elisa Cali, Vinícius Lopes Braga, et al.
Brain Communications
|
October 10, 2025
Biallelic <i>NDUFA9</i> variants cause a progressive neurodevelopmental disorder with prominent dystonia and mitochondrial complex I deficiency
Francesca Magrinelli, Lucie S Taylor, Sahar Sedighzadeh, et al.
European Journal of Human Genetics : EJHG
|
October 18, 2023
Mobile element insertions in rare diseases: a comparative benchmark and reanalysis of 60,000 exome samples
Robin Wijngaard, German Demidov, Luke O'Gorman, et al.
European Journal of Human Genetics : EJHG
|
November 17, 2023
Correction: Mobile element insertions in rare diseases: a comparative benchmark and reanalysis of 60,000 exome samples
Robin Wijngaard, German Demidov, Luke O'Gorman, et al.
Medrxiv : the Preprint Server for Health Sciences
|
May 19, 2025
Pathogenic variants in <i>BORCS5</i> Cause a Spectrum of Neurodevelopmental and Neurodegenerative Disorders with Lysosomal Dysfunction
Niccolò E Mencacci, Georgia Minakaki, Reza Maroofian, et al.
Brain : a Journal of Neurology
|
May 10, 2021
RFC1 expansions are a common cause of idiopathic sensory neuropathy
Riccardo Currò, Alessandro Salvalaggio, Stefano Tozza, et al.
Annals of Neurology
|
June 20, 2025
Deep Brain Stimulation for VPS16-Related Dystonia: A Multicenter Study
Tatiana Svorenova, Luigi M Romito, Ahmet Kaymak, et al.
The Journal of Clinical Investigation
|
April 21, 2026
Pathogenic variants in BORCS5 Cause a Spectrum of Neurodevelopmental and Neurodegenerative Disorders with Lysosomal Dysfunction
Niccolò E Mencacci, Georgia Minakaki, Reza Maroofian, et al.
NPJ Parkinson'S Disease
|
March 30, 2024
Genotype-phenotype correlation in PRKN-associated Parkinson's disease
Poornima Jayadev Menon, Sara Sambin, Baptiste Criniere-Boizet, et al.
Movement Disorders : Official Journal of the Movement Disorder Society
|
January 19, 2026
International Registry of NKX2-1-Related Disorders: Clinical, Genetic, and Imaging Perspectives
Laia Nou-Fontanet, Claudia Ravelli, Lydie Burglen, et al.
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of 9