Search research articles
Contact Us
Filters
Showing results (11-20 of 42) with videos related to
Page
of 5
Sort By:
JIMD Reports
|
May 13, 2020
Sjögren-Larsson syndrome: The mild end of the phenotypic spectrum
Pippa Staps, Judith van Gaalen, Peter van Domburg, et al.
Parkinsonism & Related Disorders
|
December 8, 2018
The movement disorder spectrum of SCA21 (ATX-TMEM240): 3 novel families and systematic review of the literature
Andreas Traschütz, Judith van Gaalen, Mayke Oosterloo, et al.
Journal of Neurology
|
November 29, 2019
Classic ataxia-telangiectasia: the phenotype of long-term survivors
Nienke J H van Os, Marcel van Deuren, Corry M R Weemaes, et al.
Neurology
|
December 4, 2018
Trajectories of motor abnormalities in milder phenotypes of ataxia telangiectasia
Nienke J H van Os, Anke Hensiek, Judith van Gaalen, et al.
Pediatric Neurology
|
September 27, 2020
The Phenotypic Spectrum of PNKP-Associated Disease and the Absence of Immunodeficiency and Cancer Predisposition in a Dutch Cohort
Mark R Garrelfs, Sanami Takada, Erik-Jan Kamsteeg, et al.
Parkinsonism & Related Disorders
|
September 26, 2020
A hereditary spastic paraplegia predominant phenotype caused by variants in the NEFL gene
Karlien Mul, Meyke I Schouten, Erica van der Looij, et al.
Journal of Neurology
|
June 7, 2025
Serological analysis of gluten-related antibodies in idiopathic neuropathies and cerebellar ataxia
Maxine D Rouvroye, Janna Warendorf, Alexander Vrancken, et al.
Neuroimage
|
November 9, 2022
CerebNet: A fast and reliable deep-learning pipeline for detailed cerebellum sub-segmentation
Jennifer Faber, David Kügler, Emad Bahrami, et al.
Journal of Medical Genetics
|
March 2, 2019
Genotype-phenotype correlations in ataxia telangiectasia patients with <i>ATM</i> c.3576G>A and c.8147T>C mutations
Nienke J H van Os, Luciana Chessa, Corry M R Weemaes, et al.
Brain : a Journal of Neurology
|
June 4, 2019
De novo SPAST mutations may cause a complex SPG4 phenotype
Jolanda H Schieving, Susanne T de Bot, Laura A van de Pol, et al.
Page
of 5
Search research articles
Search
Showing results (11-20 of 42) with videos related to
Sort By:
Page
of 5
JIMD Reports
|
May 13, 2020
Sjögren-Larsson syndrome: The mild end of the phenotypic spectrum
Pippa Staps, Judith van Gaalen, Peter van Domburg, et al.
Parkinsonism & Related Disorders
|
December 8, 2018
The movement disorder spectrum of SCA21 (ATX-TMEM240): 3 novel families and systematic review of the literature
Andreas Traschütz, Judith van Gaalen, Mayke Oosterloo, et al.
Journal of Neurology
|
November 29, 2019
Classic ataxia-telangiectasia: the phenotype of long-term survivors
Nienke J H van Os, Marcel van Deuren, Corry M R Weemaes, et al.
Neurology
|
December 4, 2018
Trajectories of motor abnormalities in milder phenotypes of ataxia telangiectasia
Nienke J H van Os, Anke Hensiek, Judith van Gaalen, et al.
Pediatric Neurology
|
September 27, 2020
The Phenotypic Spectrum of PNKP-Associated Disease and the Absence of Immunodeficiency and Cancer Predisposition in a Dutch Cohort
Mark R Garrelfs, Sanami Takada, Erik-Jan Kamsteeg, et al.
Parkinsonism & Related Disorders
|
September 26, 2020
A hereditary spastic paraplegia predominant phenotype caused by variants in the NEFL gene
Karlien Mul, Meyke I Schouten, Erica van der Looij, et al.
Journal of Neurology
|
June 7, 2025
Serological analysis of gluten-related antibodies in idiopathic neuropathies and cerebellar ataxia
Maxine D Rouvroye, Janna Warendorf, Alexander Vrancken, et al.
Neuroimage
|
November 9, 2022
CerebNet: A fast and reliable deep-learning pipeline for detailed cerebellum sub-segmentation
Jennifer Faber, David Kügler, Emad Bahrami, et al.
Journal of Medical Genetics
|
March 2, 2019
Genotype-phenotype correlations in ataxia telangiectasia patients with <i>ATM</i> c.3576G>A and c.8147T>C mutations
Nienke J H van Os, Luciana Chessa, Corry M R Weemaes, et al.
Brain : a Journal of Neurology
|
June 4, 2019
De novo SPAST mutations may cause a complex SPG4 phenotype
Jolanda H Schieving, Susanne T de Bot, Laura A van de Pol, et al.
Page
of 5