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Jonathan Baets

Showing results (101-110 of 135) with videos related to

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Journal of Neurology, Neurosurgery, and Psychiatry|September 2, 2017
Biomarkers predict outcome in Charcot-Marie-Tooth disease 1ARobert Fledrich, Manoj Mannil, Andreas Leha, et al.
Brain : a Journal of Neurology|August 16, 2011
Genetic spectrum of hereditary neuropathies with onset in the first year of lifeJonathan Baets, Tine Deconinck, Els De Vriendt, et al.
Brain : a Journal of Neurology|May 29, 2019
FAHN/SPG35: a narrow phenotypic spectrum across disease classificationsTim W Rattay, Tobias Lindig, Jonathan Baets, et al.
Medrxiv : the Preprint Server for Health Sciences|April 10, 2026
A 5' UTR CCG expansion in <i>TBC1D7</i> causes oculopharyngodistal myopathyLiedewei Van de Vondel, Riccardo Curro, Stefano Facchini, et al.
Brain : a Journal of Neurology|November 11, 2017
Hereditary spastic paraplegia type 5: natural history, biomarkers and a randomized controlled trialLudger Schöls, Tim W Rattay, Peter Martus, et al.
Brain : a Journal of Neurology|April 1, 2025
Heterozygous RAB3A variants cause cerebellar ataxia by a partial loss-of-function mechanismHolger Hengel, Shabab B Hannan, Selina Reich, et al.
Frontiers in Neurology|July 12, 2021
The ARCA Registry: A Collaborative Global Platform for Advancing Trial Readiness in Autosomal Recessive Cerebellar AtaxiasAndreas Traschütz, Selina Reich, Astrid D Adarmes, et al.
Disease Models & Mechanisms|January 10, 2017
A homozygous FITM2 mutation causes a deafness-dystonia syndrome with motor regression and signs of ichthyosis and sensory neuropathyCelia Zazo Seco, Anna Castells-Nobau, Seol-Hee Joo, et al.
Skeletal Muscle|August 1, 2018
Detection of variants in dystroglycanopathy-associated genes through the application of targeted whole-exome sequencing analysis to a large cohort of patients with unexplained limb-girdle muscle weaknessKatherine Johnson, Marta Bertoli, Lauren Phillips, et al.
Brain : a Journal of Neurology|March 7, 2008
REEP1 mutation spectrum and genotype/phenotype correlation in hereditary spastic paraplegia type 31Christian Beetz, Rebecca Schüle, Tine Deconinck, et al.
Pageof 14

Showing results (101-110 of 135) with videos related to

Sort By:
Pageof 14
Journal of Neurology, Neurosurgery, and Psychiatry|September 2, 2017
Biomarkers predict outcome in Charcot-Marie-Tooth disease 1ARobert Fledrich, Manoj Mannil, Andreas Leha, et al.
Brain : a Journal of Neurology|August 16, 2011
Genetic spectrum of hereditary neuropathies with onset in the first year of lifeJonathan Baets, Tine Deconinck, Els De Vriendt, et al.
Brain : a Journal of Neurology|May 29, 2019
FAHN/SPG35: a narrow phenotypic spectrum across disease classificationsTim W Rattay, Tobias Lindig, Jonathan Baets, et al.
Medrxiv : the Preprint Server for Health Sciences|April 10, 2026
A 5' UTR CCG expansion in <i>TBC1D7</i> causes oculopharyngodistal myopathyLiedewei Van de Vondel, Riccardo Curro, Stefano Facchini, et al.
Brain : a Journal of Neurology|November 11, 2017
Hereditary spastic paraplegia type 5: natural history, biomarkers and a randomized controlled trialLudger Schöls, Tim W Rattay, Peter Martus, et al.
Brain : a Journal of Neurology|April 1, 2025
Heterozygous RAB3A variants cause cerebellar ataxia by a partial loss-of-function mechanismHolger Hengel, Shabab B Hannan, Selina Reich, et al.
Frontiers in Neurology|July 12, 2021
The ARCA Registry: A Collaborative Global Platform for Advancing Trial Readiness in Autosomal Recessive Cerebellar AtaxiasAndreas Traschütz, Selina Reich, Astrid D Adarmes, et al.
Disease Models & Mechanisms|January 10, 2017
A homozygous FITM2 mutation causes a deafness-dystonia syndrome with motor regression and signs of ichthyosis and sensory neuropathyCelia Zazo Seco, Anna Castells-Nobau, Seol-Hee Joo, et al.
Skeletal Muscle|August 1, 2018
Detection of variants in dystroglycanopathy-associated genes through the application of targeted whole-exome sequencing analysis to a large cohort of patients with unexplained limb-girdle muscle weaknessKatherine Johnson, Marta Bertoli, Lauren Phillips, et al.
Brain : a Journal of Neurology|March 7, 2008
REEP1 mutation spectrum and genotype/phenotype correlation in hereditary spastic paraplegia type 31Christian Beetz, Rebecca Schüle, Tine Deconinck, et al.
Pageof 14