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Journal of Medical Genetics
|
June 26, 2021
Loss-of-function variants in <i>DNM1</i> cause a specific form of developmental and epileptic encephalopathy only in biallelic state
Gökhan Yigit, Ruth Sheffer, Muhannad Daana, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society
|
February 22, 2025
The natural history of pediatric Sturge-Weber Syndrome: A multinational cross-sectional study
Sigrid Claudia Disse, Hanna Küpper, Annette Bock, et al.
Orphanet Journal of Rare Diseases
|
July 3, 2025
Sturge Weber syndrome in a multinational pediatric cohort: a systematic analysis of different types
Sigrid Disse, Georgia Ramantani, Hanna Küpper, et al.
Annals of Neurology
|
July 12, 2002
Succinate in dystrophic white matter: a proton magnetic resonance spectroscopy finding characteristic for complex II deficiency
Knut Brockmann, Alf Bjornstad, Peter Dechent, et al.
Neurobiology of Disease
|
July 13, 2020
Comparative analysis of alternating hemiplegia of childhood and rapid-onset dystonia-parkinsonism ATP1A3 mutations reveals functional deficits, which do not correlate with disease severity
Elinor Lazarov, Merle Hillebrand, Simone Schröder, et al.
Orphanet Journal of Rare Diseases
|
May 2, 2023
The genetic spectrum of congenital ocular motor apraxia type Cogan: an observational study, continued
Simone Schröder, Gökhan Yigit, Yun Li, et al.
Frontiers in Neurology
|
March 26, 2024
Corrigendum: Psychometric evaluation and reference values for the German Postconcussion Symptom Inventory (PCSI-SR8) in children aged 8-12 years
Marina Zeldovich, Leonie Krol, Dagmar Timmermann, et al.
Frontiers in Neurology
|
December 4, 2023
Psychometric evaluation and reference values for the German Postconcussion Symptom Inventory (PCSI-SR8) in children aged 8-12 years
Marina Zeldovich, Leonie Krol, Dagmar Timmermann, et al.
Annals of Neurology
|
December 9, 2015
Magnetic resonance imaging spectrum of succinate dehydrogenase-related infantile leukoencephalopathy
Guy Helman, Ljubica Caldovic, Matthew T Whitehead, et al.
Brain : a Journal of Neurology
|
June 18, 2010
Kelch-like homologue 9 mutation is associated with an early onset autosomal dominant distal myopathy
Sebahattin Cirak, Florian von Deimling, Shrikesh Sachdev, et al.
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of 13
Search research articles
Search
Showing results (71-80 of 125) with videos related to
Sort By:
Page
of 13
Journal of Medical Genetics
|
June 26, 2021
Loss-of-function variants in <i>DNM1</i> cause a specific form of developmental and epileptic encephalopathy only in biallelic state
Gökhan Yigit, Ruth Sheffer, Muhannad Daana, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society
|
February 22, 2025
The natural history of pediatric Sturge-Weber Syndrome: A multinational cross-sectional study
Sigrid Claudia Disse, Hanna Küpper, Annette Bock, et al.
Orphanet Journal of Rare Diseases
|
July 3, 2025
Sturge Weber syndrome in a multinational pediatric cohort: a systematic analysis of different types
Sigrid Disse, Georgia Ramantani, Hanna Küpper, et al.
Annals of Neurology
|
July 12, 2002
Succinate in dystrophic white matter: a proton magnetic resonance spectroscopy finding characteristic for complex II deficiency
Knut Brockmann, Alf Bjornstad, Peter Dechent, et al.
Neurobiology of Disease
|
July 13, 2020
Comparative analysis of alternating hemiplegia of childhood and rapid-onset dystonia-parkinsonism ATP1A3 mutations reveals functional deficits, which do not correlate with disease severity
Elinor Lazarov, Merle Hillebrand, Simone Schröder, et al.
Orphanet Journal of Rare Diseases
|
May 2, 2023
The genetic spectrum of congenital ocular motor apraxia type Cogan: an observational study, continued
Simone Schröder, Gökhan Yigit, Yun Li, et al.
Frontiers in Neurology
|
March 26, 2024
Corrigendum: Psychometric evaluation and reference values for the German Postconcussion Symptom Inventory (PCSI-SR8) in children aged 8-12 years
Marina Zeldovich, Leonie Krol, Dagmar Timmermann, et al.
Frontiers in Neurology
|
December 4, 2023
Psychometric evaluation and reference values for the German Postconcussion Symptom Inventory (PCSI-SR8) in children aged 8-12 years
Marina Zeldovich, Leonie Krol, Dagmar Timmermann, et al.
Annals of Neurology
|
December 9, 2015
Magnetic resonance imaging spectrum of succinate dehydrogenase-related infantile leukoencephalopathy
Guy Helman, Ljubica Caldovic, Matthew T Whitehead, et al.
Brain : a Journal of Neurology
|
June 18, 2010
Kelch-like homologue 9 mutation is associated with an early onset autosomal dominant distal myopathy
Sebahattin Cirak, Florian von Deimling, Shrikesh Sachdev, et al.
Page
of 13