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American Journal of Human Genetics
|
November 25, 2010
Targeted next-generation sequencing of a 12.5 Mb homozygous region reveals ANO10 mutations in patients with autosomal-recessive cerebellar ataxia
Sascha Vermeer, Alexander Hoischen, Rowdy P P Meijer, et al.
Neurology
|
November 6, 2015
ADCY5-related dyskinesia: Broader spectrum and genotype-phenotype correlations
Dong-Hui Chen, Aurélie Méneret, Jennifer R Friedman, et al.
Neurology
|
October 19, 2012
FXTAS: new insights and the need for revised diagnostic criteria
Emmanuelle Apartis, Anne Blancher, Wassilios G Meissner, et al.
Brain : a Journal of Neurology
|
October 3, 2023
Motivational and cognitive predictors of apathy after subthalamic nucleus stimulation in Parkinson's disease
Matthieu Béreau, Astrid Kibleur, Mathieu Servant, et al.
JAMA Neurology
|
February 27, 2018
Efficacy of Exome-Targeted Capture Sequencing to Detect Mutations in Known Cerebellar Ataxia Genes
Marie Coutelier, Monia B Hammer, Giovanni Stevanin, et al.
European Journal of Human Genetics : EJHG
|
June 30, 2018
Primary brain calcification: an international study reporting novel variants and associated phenotypes
Eliana Marisa Ramos, Miryam Carecchio, Roberta Lemos, et al.
Movement Disorders : Official Journal of the Movement Disorder Society
|
November 17, 2018
Suggestive association between OPRM1 and impulse control disorders in Parkinson's disease
Florence Cormier-Dequaire, Samir Bekadar, Mathieu Anheim, et al.
Frontiers in Neurology
|
July 12, 2021
The ARCA Registry: A Collaborative Global Platform for Advancing Trial Readiness in Autosomal Recessive Cerebellar Ataxias
Andreas Traschütz, Selina Reich, Astrid D Adarmes, et al.
Brain : a Journal of Neurology
|
December 15, 2007
Mutations in SPG11 are frequent in autosomal recessive spastic paraplegia with thin corpus callosum, cognitive decline and lower motor neuron degeneration
Giovanni Stevanin, Hamid Azzedine, Paola Denora, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
September 27, 2025
Type and position of repeat interruptions as determinants of disease severity and expansion size in Friedreich ataxia
Mehdi Benkirane, Cecilia Marelli, Ariane Choumert, et al.
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Search research articles
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Showing results (161-170 of 189) with videos related to
Sort By:
Page
of 19
American Journal of Human Genetics
|
November 25, 2010
Targeted next-generation sequencing of a 12.5 Mb homozygous region reveals ANO10 mutations in patients with autosomal-recessive cerebellar ataxia
Sascha Vermeer, Alexander Hoischen, Rowdy P P Meijer, et al.
Neurology
|
November 6, 2015
ADCY5-related dyskinesia: Broader spectrum and genotype-phenotype correlations
Dong-Hui Chen, Aurélie Méneret, Jennifer R Friedman, et al.
Neurology
|
October 19, 2012
FXTAS: new insights and the need for revised diagnostic criteria
Emmanuelle Apartis, Anne Blancher, Wassilios G Meissner, et al.
Brain : a Journal of Neurology
|
October 3, 2023
Motivational and cognitive predictors of apathy after subthalamic nucleus stimulation in Parkinson's disease
Matthieu Béreau, Astrid Kibleur, Mathieu Servant, et al.
JAMA Neurology
|
February 27, 2018
Efficacy of Exome-Targeted Capture Sequencing to Detect Mutations in Known Cerebellar Ataxia Genes
Marie Coutelier, Monia B Hammer, Giovanni Stevanin, et al.
European Journal of Human Genetics : EJHG
|
June 30, 2018
Primary brain calcification: an international study reporting novel variants and associated phenotypes
Eliana Marisa Ramos, Miryam Carecchio, Roberta Lemos, et al.
Movement Disorders : Official Journal of the Movement Disorder Society
|
November 17, 2018
Suggestive association between OPRM1 and impulse control disorders in Parkinson's disease
Florence Cormier-Dequaire, Samir Bekadar, Mathieu Anheim, et al.
Frontiers in Neurology
|
July 12, 2021
The ARCA Registry: A Collaborative Global Platform for Advancing Trial Readiness in Autosomal Recessive Cerebellar Ataxias
Andreas Traschütz, Selina Reich, Astrid D Adarmes, et al.
Brain : a Journal of Neurology
|
December 15, 2007
Mutations in SPG11 are frequent in autosomal recessive spastic paraplegia with thin corpus callosum, cognitive decline and lower motor neuron degeneration
Giovanni Stevanin, Hamid Azzedine, Paola Denora, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
September 27, 2025
Type and position of repeat interruptions as determinants of disease severity and expansion size in Friedreich ataxia
Mehdi Benkirane, Cecilia Marelli, Ariane Choumert, et al.
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of 19