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Journal of Medical Genetics
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June 4, 2021
Refining the mutational spectrum and gene-phenotype correlates in pontocerebellar hypoplasia: results of a multicentric study
Sara Nuovo, Alessia Micalizzi, Romina Romaniello, et al.
Journal of Medical Genetics
|
October 22, 2021
<i>SUFU</i> haploinsufficiency causes a recognisable neurodevelopmental phenotype at the mild end of the Joubert syndrome spectrum
Valentina Serpieri, Fulvio D'Abrusco, Jennifer C Dempsey, et al.
Movement Disorders : Official Journal of the Movement Disorder Society
|
October 29, 2022
Progressive Spinal Cord Degeneration in Friedreich's Ataxia: Results from ENIGMA-Ataxia
Thiago J R Rezende, Isaac M Adanyeguh, Filippo Arrigoni, et al.
Frontiers in Neurology
|
May 2, 2022
Quantitative MRI Harmonization to Maximize Clinical Impact: The RIN-Neuroimaging Network
Anna Nigri, Stefania Ferraro, Claudia A M Gandini Wheeler-Kingshott, et al.
Radiology
|
March 10, 2026
Identification of Biological Subtypes of Friedreich Ataxia with Structural MRI-based Machine Learning
Giuseppe Pontillo, Simone Penna, Filippo Arrigoni, et al.
Annals of Neurology
|
August 26, 2021
Brain Structure and Degeneration Staging in Friedreich Ataxia: Magnetic Resonance Imaging Volumetrics from the ENIGMA-Ataxia Working Group
Ian H Harding, Sidhant Chopra, Filippo Arrigoni, 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 involvement
Rauan Kaiyrzhanov, Sami E M Mohammed, Reza Maroofian, et al.
Neurology
|
December 5, 2020
Basal Ganglia Dysmorphism in Patients With Aicardi Syndrome
Silvia Masnada, Anna Pichiecchio, Manuela Formica, et al.
Page
of 10
Search research articles
Search
Showing results (91-100 of 98) with videos related to
Sort By:
Page
of 10
You have reached the last page of results.
This site can display upto 98 results.
Journal of Medical Genetics
|
June 4, 2021
Refining the mutational spectrum and gene-phenotype correlates in pontocerebellar hypoplasia: results of a multicentric study
Sara Nuovo, Alessia Micalizzi, Romina Romaniello, et al.
Journal of Medical Genetics
|
October 22, 2021
<i>SUFU</i> haploinsufficiency causes a recognisable neurodevelopmental phenotype at the mild end of the Joubert syndrome spectrum
Valentina Serpieri, Fulvio D'Abrusco, Jennifer C Dempsey, et al.
Movement Disorders : Official Journal of the Movement Disorder Society
|
October 29, 2022
Progressive Spinal Cord Degeneration in Friedreich's Ataxia: Results from ENIGMA-Ataxia
Thiago J R Rezende, Isaac M Adanyeguh, Filippo Arrigoni, et al.
Frontiers in Neurology
|
May 2, 2022
Quantitative MRI Harmonization to Maximize Clinical Impact: The RIN-Neuroimaging Network
Anna Nigri, Stefania Ferraro, Claudia A M Gandini Wheeler-Kingshott, et al.
Radiology
|
March 10, 2026
Identification of Biological Subtypes of Friedreich Ataxia with Structural MRI-based Machine Learning
Giuseppe Pontillo, Simone Penna, Filippo Arrigoni, et al.
Annals of Neurology
|
August 26, 2021
Brain Structure and Degeneration Staging in Friedreich Ataxia: Magnetic Resonance Imaging Volumetrics from the ENIGMA-Ataxia Working Group
Ian H Harding, Sidhant Chopra, Filippo Arrigoni, 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 involvement
Rauan Kaiyrzhanov, Sami E M Mohammed, Reza Maroofian, et al.
Neurology
|
December 5, 2020
Basal Ganglia Dysmorphism in Patients With Aicardi Syndrome
Silvia Masnada, Anna Pichiecchio, Manuela Formica, et al.
Page
of 10