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Neurogenetics
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February 10, 2018
Clinical and neuroimaging features of autosomal recessive spastic paraplegia 35 (SPG35): case reports, new mutations, and brief literature review
Francesco Mari, Beatrice Berti, Alessandro Romano, et al.
Journal of Neurology
|
October 14, 2011
New findings in the ataxia of Charlevoix-Saguenay
José Gazulla, Isabel Benavente, Ana Carmen Vela, et al.
Neurogenetics
|
May 2, 2023
Power of NGS-based tests in HSP diagnosis: analysis of massively parallel sequencing in clinical practice
Daniele Galatolo, Rosanna Trovato, Arianna Scarlatti, et al.
Journal of Neurology
|
May 28, 2022
Screening for RFC-1 pathological expansion in late-onset ataxias: a contribution to the differential diagnosis
Melissa Barghigiani, Giovanna De Michele, Alessandra Tessa, et al.
European Radiology
|
May 20, 2022
Iron-sensitive MR imaging of the primary motor cortex to differentiate hereditary spastic paraplegia from other motor neuron diseases
Mirco Cosottini, Graziella Donatelli, Ivana Ricca, et al.
Plos One
|
March 18, 2011
A combined nucleic acid and protein analysis in Friedreich ataxia: implications for diagnosis, pathogenesis and clinical trial design
Francesco Saccà, Giorgia Puorro, Antonella Antenora, et al.
Molecular and Cellular Neurosciences
|
September 20, 2005
Altered expression of the MCSP/NG2 chondroitin sulfate proteoglycan in collagen VI deficiency
Stefania Petrini, Alessandra Tessa, William B Stallcup, et al.
Journal of Neurology
|
June 1, 2011
Structural and metabolic damage in brains of patients with SPG11-related spastic paraplegia as detected by quantitative MRI
Maria Laura Stromillo, Alessandro Malandrini, Maria Teresa Dotti, et al.
Neuromuscular Disorders : NMD
|
June 26, 2007
Ullrich myopathy phenotype with secondary ColVI defect identified by confocal imaging and electron microscopy analysis
Stefania Petrini, Adele D'Amico, Patrizio Sale, et al.
Journal of Neurology
|
March 11, 2021
New pathogenic variants in COQ4 cause ataxia and neurodevelopmental disorder without detectable CoQ<sub>10</sub> deficiency in muscle or skin fibroblasts
Serena Mero, Leonardo Salviati, Vincenzo Leuzzi, et al.
Page
of 12
Search research articles
Search
Showing results (81-90 of 116) with videos related to
Sort By:
Page
of 12
Neurogenetics
|
February 10, 2018
Clinical and neuroimaging features of autosomal recessive spastic paraplegia 35 (SPG35): case reports, new mutations, and brief literature review
Francesco Mari, Beatrice Berti, Alessandro Romano, et al.
Journal of Neurology
|
October 14, 2011
New findings in the ataxia of Charlevoix-Saguenay
José Gazulla, Isabel Benavente, Ana Carmen Vela, et al.
Neurogenetics
|
May 2, 2023
Power of NGS-based tests in HSP diagnosis: analysis of massively parallel sequencing in clinical practice
Daniele Galatolo, Rosanna Trovato, Arianna Scarlatti, et al.
Journal of Neurology
|
May 28, 2022
Screening for RFC-1 pathological expansion in late-onset ataxias: a contribution to the differential diagnosis
Melissa Barghigiani, Giovanna De Michele, Alessandra Tessa, et al.
European Radiology
|
May 20, 2022
Iron-sensitive MR imaging of the primary motor cortex to differentiate hereditary spastic paraplegia from other motor neuron diseases
Mirco Cosottini, Graziella Donatelli, Ivana Ricca, et al.
Plos One
|
March 18, 2011
A combined nucleic acid and protein analysis in Friedreich ataxia: implications for diagnosis, pathogenesis and clinical trial design
Francesco Saccà, Giorgia Puorro, Antonella Antenora, et al.
Molecular and Cellular Neurosciences
|
September 20, 2005
Altered expression of the MCSP/NG2 chondroitin sulfate proteoglycan in collagen VI deficiency
Stefania Petrini, Alessandra Tessa, William B Stallcup, et al.
Journal of Neurology
|
June 1, 2011
Structural and metabolic damage in brains of patients with SPG11-related spastic paraplegia as detected by quantitative MRI
Maria Laura Stromillo, Alessandro Malandrini, Maria Teresa Dotti, et al.
Neuromuscular Disorders : NMD
|
June 26, 2007
Ullrich myopathy phenotype with secondary ColVI defect identified by confocal imaging and electron microscopy analysis
Stefania Petrini, Adele D'Amico, Patrizio Sale, et al.
Journal of Neurology
|
March 11, 2021
New pathogenic variants in COQ4 cause ataxia and neurodevelopmental disorder without detectable CoQ<sub>10</sub> deficiency in muscle or skin fibroblasts
Serena Mero, Leonardo Salviati, Vincenzo Leuzzi, et al.
Page
of 12