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JIMD Reports
|
March 17, 2021
Long-term disease course of two patients with multiple sulfatase deficiency differs from metachromatic leukodystrophy in a broad cohort
Stefanie Beck-Wödl, Christiane Kehrer, Klaus Harzer, et al.
Developmental Medicine and Child Neurology
|
August 18, 2017
Association of transcallosal motor fibres with function of both hands after unilateral neonatal arterial ischemic stroke
Samuel Groeschel, Lucie Hertz-Pannier, Matthieu Delion, et al.
Developmental Medicine and Child Neurology
|
July 16, 2025
Constructed growth charts and nutrition for pontocerebellar hypoplasia type 2A
Alice Kuhn, Maren Hackenberg, Anna-Lena Klauser, et al.
Clinical Neurophysiology : Official Journal of the International Federation of Clinical Neurophysiology
|
February 18, 2020
Nerve ultrasound reference data in children from two to seven years
Charlotte Schubert, Anna-Sophie Grimm, Jan-Hendrik Stahl, et al.
Annals of Clinical and Translational Neurology
|
June 5, 2024
Late-onset Krabbe disease presenting as spastic paraplegia - implications of GCase and CTSB/D
Rebecca Mächtel, Jan-Philipp Dobert, Ute Hehr, et al.
JIMD Reports
|
July 13, 2022
Extremely low arylsulfatase A enzyme activity does not necessarily cause symptoms: A long-term follow-up and review of the literature
Lucia Laugwitz, Vidiyaah Santhanakumaran, Mareike Spieker, et al.
Disease Models & Mechanisms
|
July 22, 2024
Human organoid model of pontocerebellar hypoplasia 2a recapitulates brain region-specific size differences
Theresa Kagermeier, Stefan Hauser, Kseniia Sarieva, et al.
Molecular Genetics and Metabolism
|
October 14, 2022
Predicting clinical phenotypes of metachromatic leukodystrophy based on the arylsulfatase A activity and the ARSA genotype? - Chances and challenges
Vidiyaah Santhanakumaran, Samuel Groeschel, Klaus Harzer, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society
|
May 1, 2025
Brain morphometry and psychomotor development in children with PCH2A
Pablo Pretzel, Antonia Herrmann, Alice Kuhn, et al.
Molecular Genetics and Metabolism
|
February 5, 2023
Corrigendum to "Predicting clinical phenotypes of metachromatic leukodystrophy based on the arylsulfatase A activity and the ARSA genotype? - Chances and challenges" Mol Genet Metab/Vol 137/Issue 3/2022/ 273-282
Vidiyaah Santhanakumaran, Samuel Groeschel, Klaus Harzer, et al.
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of 9
Search research articles
Search
Showing results (51-60 of 86) with videos related to
Sort By:
Page
of 9
JIMD Reports
|
March 17, 2021
Long-term disease course of two patients with multiple sulfatase deficiency differs from metachromatic leukodystrophy in a broad cohort
Stefanie Beck-Wödl, Christiane Kehrer, Klaus Harzer, et al.
Developmental Medicine and Child Neurology
|
August 18, 2017
Association of transcallosal motor fibres with function of both hands after unilateral neonatal arterial ischemic stroke
Samuel Groeschel, Lucie Hertz-Pannier, Matthieu Delion, et al.
Developmental Medicine and Child Neurology
|
July 16, 2025
Constructed growth charts and nutrition for pontocerebellar hypoplasia type 2A
Alice Kuhn, Maren Hackenberg, Anna-Lena Klauser, et al.
Clinical Neurophysiology : Official Journal of the International Federation of Clinical Neurophysiology
|
February 18, 2020
Nerve ultrasound reference data in children from two to seven years
Charlotte Schubert, Anna-Sophie Grimm, Jan-Hendrik Stahl, et al.
Annals of Clinical and Translational Neurology
|
June 5, 2024
Late-onset Krabbe disease presenting as spastic paraplegia - implications of GCase and CTSB/D
Rebecca Mächtel, Jan-Philipp Dobert, Ute Hehr, et al.
JIMD Reports
|
July 13, 2022
Extremely low arylsulfatase A enzyme activity does not necessarily cause symptoms: A long-term follow-up and review of the literature
Lucia Laugwitz, Vidiyaah Santhanakumaran, Mareike Spieker, et al.
Disease Models & Mechanisms
|
July 22, 2024
Human organoid model of pontocerebellar hypoplasia 2a recapitulates brain region-specific size differences
Theresa Kagermeier, Stefan Hauser, Kseniia Sarieva, et al.
Molecular Genetics and Metabolism
|
October 14, 2022
Predicting clinical phenotypes of metachromatic leukodystrophy based on the arylsulfatase A activity and the ARSA genotype? - Chances and challenges
Vidiyaah Santhanakumaran, Samuel Groeschel, Klaus Harzer, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society
|
May 1, 2025
Brain morphometry and psychomotor development in children with PCH2A
Pablo Pretzel, Antonia Herrmann, Alice Kuhn, et al.
Molecular Genetics and Metabolism
|
February 5, 2023
Corrigendum to "Predicting clinical phenotypes of metachromatic leukodystrophy based on the arylsulfatase A activity and the ARSA genotype? - Chances and challenges" Mol Genet Metab/Vol 137/Issue 3/2022/ 273-282
Vidiyaah Santhanakumaran, Samuel Groeschel, Klaus Harzer, et al.
Page
of 9