Search research articles
Contact Us
Filters
Showing results (221-230 of 1,080) with videos related to
Page
of 108
Sort By:
Neurogenetics
|
August 12, 2025
KIF1C-related disorders: spastic ataxia or hypomyelinating leukodystrophy? A paradigm of classification ambiguity
Chiara Benzoni, Marco Moscatelli, Daniela Di Bella, et al.
Neurogenetics
|
August 11, 2025
Whole exome sequencing identifies a novel variant causing Neurodegeneration with Brain Iron Accumulation syndrome (NBIA) in a consanguineous Pashtun family
Hayat Khan, Muhammad Ilyas, Hina Qasim, et al.
Neurogenetics
|
August 9, 2025
Charting the genetic landscape of autosomal recessive hereditary spastic paraplegia: A deep dive into 10 exceptionally rare cases
Zehra Manav Yigit, Osman Semih Dikbas, Ayse Tosun, et al.
Neurogenetics
|
August 2, 2025
A monoallelic 8q24.3-duplication involving a single protein encoding TSNARE1 gene may be linked to a new leukodystrophy
Anton Karabinos, Erika Tomkova, Katarina Tothova, et al.
Neurogenetics
|
August 17, 2021
Spinocerebellar ataxias (SCAs) caused by common mutations
Ulrich Müller
Neurogenetics
|
June 4, 2020
Novel MTMR2 mutation causing severe Charcot-Marie-Tooth type 4B1 disease: a case report
Daniel Halperin, Aviad Sapir, Ohad Wormser, et al.
Neurogenetics
|
February 8, 2026
Identification of an additional deep intronic splice variant prompts critical evaluation of SPG7 inheritance
Emma H Gillesse, Miranda Wan, Setareh Ashtiani, et al.
Neurogenetics
|
March 2, 2026
Expanding the genotypic spectrum of combined oxidative phosphorylation deficiency 54
King Lam Lai, Thomas B Smith, Reza Maroofian, et al.
Neurogenetics
|
December 1, 2025
Genetic insights into the causal role of metabolic, immune, and microbial factors in migraine
Zixuan Xing, Junxiang Gu, Cong Wu, et al.
Neurogenetics
|
February 17, 2025
20 years of ROBO3-related horizontal gaze palsy with progressive scoliosis: a mini-review
Ehab Y Harahsheh, Lauren E Moxley, Matu Al-Amin, et al.
Page
of 108
Search research articles
Search
Showing results (221-230 of 1,080) with videos related to
Sort By:
Page
of 108
Neurogenetics
|
August 12, 2025
KIF1C-related disorders: spastic ataxia or hypomyelinating leukodystrophy? A paradigm of classification ambiguity
Chiara Benzoni, Marco Moscatelli, Daniela Di Bella, et al.
Neurogenetics
|
August 11, 2025
Whole exome sequencing identifies a novel variant causing Neurodegeneration with Brain Iron Accumulation syndrome (NBIA) in a consanguineous Pashtun family
Hayat Khan, Muhammad Ilyas, Hina Qasim, et al.
Neurogenetics
|
August 9, 2025
Charting the genetic landscape of autosomal recessive hereditary spastic paraplegia: A deep dive into 10 exceptionally rare cases
Zehra Manav Yigit, Osman Semih Dikbas, Ayse Tosun, et al.
Neurogenetics
|
August 2, 2025
A monoallelic 8q24.3-duplication involving a single protein encoding TSNARE1 gene may be linked to a new leukodystrophy
Anton Karabinos, Erika Tomkova, Katarina Tothova, et al.
Neurogenetics
|
August 17, 2021
Spinocerebellar ataxias (SCAs) caused by common mutations
Ulrich Müller
Neurogenetics
|
June 4, 2020
Novel MTMR2 mutation causing severe Charcot-Marie-Tooth type 4B1 disease: a case report
Daniel Halperin, Aviad Sapir, Ohad Wormser, et al.
Neurogenetics
|
February 8, 2026
Identification of an additional deep intronic splice variant prompts critical evaluation of SPG7 inheritance
Emma H Gillesse, Miranda Wan, Setareh Ashtiani, et al.
Neurogenetics
|
March 2, 2026
Expanding the genotypic spectrum of combined oxidative phosphorylation deficiency 54
King Lam Lai, Thomas B Smith, Reza Maroofian, et al.
Neurogenetics
|
December 1, 2025
Genetic insights into the causal role of metabolic, immune, and microbial factors in migraine
Zixuan Xing, Junxiang Gu, Cong Wu, et al.
Neurogenetics
|
February 17, 2025
20 years of ROBO3-related horizontal gaze palsy with progressive scoliosis: a mini-review
Ehab Y Harahsheh, Lauren E Moxley, Matu Al-Amin, et al.
Page
of 108