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Journal of Neurology
|
September 27, 2023
Update on leukodystrophies and developing trials
Giorgia Ceravolo, Kristina Zhelcheska, Violetta Squadrito, et al.
Journal of the Neurological Sciences
|
October 18, 2024
TTR associated leptomeningeal amyloidosis in a Sri Lankan patient
Mary Muthukumarasamy, Jeevagan Vijayabala, Thulasi Tharmalingam, et al.
Acta Neuropathologica
|
February 10, 2022
Brain region-specific susceptibility of Lewy body pathology in synucleinopathies is governed by α-synuclein conformations
Laura de Boni, Aurelia Hays Watson, Ludovica Zaccagnini, et al.
Clinical Genetics
|
November 24, 2025
The Genetic Landscape of Hereditary Spastic Paraplegia in Greece
Georgios Koutsis, Viorica Chelban, Chrisoula Kartanou, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
November 4, 2022
Expanding SPTAN1 monoallelic variant associated disorders: From epileptic encephalopathy to pure spastic paraplegia and ataxia
Heba Morsy, Mehdi Benkirane, Elisa Cali, et al.
Brain : a Journal of Neurology
|
July 29, 2022
Neurofilament light levels predict clinical progression and death in multiple system atrophy
Viorica Chelban, Elham Nikram, Alexandra Perez-Soriano, et al.
American Journal of Human Genetics
|
August 31, 2022
Bi-allelic loss-of-function variants in TMEM147 cause moderate to profound intellectual disability with facial dysmorphism and pseudo-Pelger-Huët anomaly
Quentin Thomas, Marialetizia Motta, Thierry Gautier, et al.
The Journal of Clinical Investigation
|
October 14, 2025
Biallelic variants in ARHGAP19 cause a progressive inherited motor-predominant neuropathy
Natalia Dominik, Stephanie Efthymiou, Christopher J Record, et al.
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of 1
Search research articles
Search
Showing results (1-10 of 8) with videos related to
Sort By:
Page
of 1
Journal of Neurology
|
September 27, 2023
Update on leukodystrophies and developing trials
Giorgia Ceravolo, Kristina Zhelcheska, Violetta Squadrito, et al.
Journal of the Neurological Sciences
|
October 18, 2024
TTR associated leptomeningeal amyloidosis in a Sri Lankan patient
Mary Muthukumarasamy, Jeevagan Vijayabala, Thulasi Tharmalingam, et al.
Acta Neuropathologica
|
February 10, 2022
Brain region-specific susceptibility of Lewy body pathology in synucleinopathies is governed by α-synuclein conformations
Laura de Boni, Aurelia Hays Watson, Ludovica Zaccagnini, et al.
Clinical Genetics
|
November 24, 2025
The Genetic Landscape of Hereditary Spastic Paraplegia in Greece
Georgios Koutsis, Viorica Chelban, Chrisoula Kartanou, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
November 4, 2022
Expanding SPTAN1 monoallelic variant associated disorders: From epileptic encephalopathy to pure spastic paraplegia and ataxia
Heba Morsy, Mehdi Benkirane, Elisa Cali, et al.
Brain : a Journal of Neurology
|
July 29, 2022
Neurofilament light levels predict clinical progression and death in multiple system atrophy
Viorica Chelban, Elham Nikram, Alexandra Perez-Soriano, et al.
American Journal of Human Genetics
|
August 31, 2022
Bi-allelic loss-of-function variants in TMEM147 cause moderate to profound intellectual disability with facial dysmorphism and pseudo-Pelger-Huët anomaly
Quentin Thomas, Marialetizia Motta, Thierry Gautier, et al.
The Journal of Clinical Investigation
|
October 14, 2025
Biallelic variants in ARHGAP19 cause a progressive inherited motor-predominant neuropathy
Natalia Dominik, Stephanie Efthymiou, Christopher J Record, et al.
Page
of 1