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Orphanet Journal of Rare Diseases
|
June 13, 2019
Phenotypic variation between siblings with Metachromatic Leukodystrophy
Saskia Elgün, Jakob Waibel, Christiane Kehrer, et al.
European Journal of Medical Genetics
|
May 4, 2020
Pontocerebellar hypoplasia type 11: Does the genetic defect determine timing of cerebellar pathology?
Lucia Laugwitz, Rebecca Buchert, Samuel Groeschel, et al.
Neuropediatrics
|
April 13, 2023
Clinical Significance of Diffusion Tensor Imaging in Metachromatic Leukodystrophy
Lucas Bastian Amedick, Pascal Martin, Judith Beschle, et al.
Frontiers in Neurology
|
May 16, 2020
Normative Observational Nerve Ultrasound Values in School-Age Children and Adolescents and Their Application to Hereditary Neuropathies
Anna-Sophie Grimm, Charlotte Schubert, Alexander Grimm, et al.
Annals of Clinical and Translational Neurology
|
December 26, 2023
Effects of sulfatide on peripheral nerves in metachromatic leukodystrophy
Mohamed H Farah, Christine Í Dali, Samuel Groeschel, et al.
JAMA Neurology
|
July 12, 2016
Long-term Outcome of Allogeneic Hematopoietic Stem Cell Transplantation in Patients With Juvenile Metachromatic Leukodystrophy Compared With Nontransplanted Control Patients
Samuel Groeschel, Jörn-Sven Kühl, Annette E Bley, et al.
Clinical Neuroradiology
|
April 21, 2026
Automated Deep Learning-Based Demyelination Load Segmentation in Metachromatic Leukodystrophy
Pascal Martin, Joël Schaerer, Thomas Cajgfinger, et al.
Neurology
|
January 2, 2024
Clinical, Imaging, Genetic, and Disease Course Characteristics in Patients With GM2 Gangliosidosis: Beyond Age of Onset
Jan Kern, Judith Böhringer, Dagmar Timmann, et al.
Journal of Child Neurology
|
May 14, 2025
Exploration Into Lived Experiences of Multiple Sulfatase Deficiency-Affected Individuals and Their Families
Francesco Gavazzi, Emily Yu, Zarrin Tashnim, et al.
Plos One
|
November 30, 2016
Assessing White Matter Microstructure in Brain Regions with Different Myelin Architecture Using MRI
Samuel Groeschel, Gisela E Hagberg, Thomas Schultz, et al.
Page
of 9
Search research articles
Search
Showing results (61-70 of 86) with videos related to
Sort By:
Page
of 9
Orphanet Journal of Rare Diseases
|
June 13, 2019
Phenotypic variation between siblings with Metachromatic Leukodystrophy
Saskia Elgün, Jakob Waibel, Christiane Kehrer, et al.
European Journal of Medical Genetics
|
May 4, 2020
Pontocerebellar hypoplasia type 11: Does the genetic defect determine timing of cerebellar pathology?
Lucia Laugwitz, Rebecca Buchert, Samuel Groeschel, et al.
Neuropediatrics
|
April 13, 2023
Clinical Significance of Diffusion Tensor Imaging in Metachromatic Leukodystrophy
Lucas Bastian Amedick, Pascal Martin, Judith Beschle, et al.
Frontiers in Neurology
|
May 16, 2020
Normative Observational Nerve Ultrasound Values in School-Age Children and Adolescents and Their Application to Hereditary Neuropathies
Anna-Sophie Grimm, Charlotte Schubert, Alexander Grimm, et al.
Annals of Clinical and Translational Neurology
|
December 26, 2023
Effects of sulfatide on peripheral nerves in metachromatic leukodystrophy
Mohamed H Farah, Christine Í Dali, Samuel Groeschel, et al.
JAMA Neurology
|
July 12, 2016
Long-term Outcome of Allogeneic Hematopoietic Stem Cell Transplantation in Patients With Juvenile Metachromatic Leukodystrophy Compared With Nontransplanted Control Patients
Samuel Groeschel, Jörn-Sven Kühl, Annette E Bley, et al.
Clinical Neuroradiology
|
April 21, 2026
Automated Deep Learning-Based Demyelination Load Segmentation in Metachromatic Leukodystrophy
Pascal Martin, Joël Schaerer, Thomas Cajgfinger, et al.
Neurology
|
January 2, 2024
Clinical, Imaging, Genetic, and Disease Course Characteristics in Patients With GM2 Gangliosidosis: Beyond Age of Onset
Jan Kern, Judith Böhringer, Dagmar Timmann, et al.
Journal of Child Neurology
|
May 14, 2025
Exploration Into Lived Experiences of Multiple Sulfatase Deficiency-Affected Individuals and Their Families
Francesco Gavazzi, Emily Yu, Zarrin Tashnim, et al.
Plos One
|
November 30, 2016
Assessing White Matter Microstructure in Brain Regions with Different Myelin Architecture Using MRI
Samuel Groeschel, Gisela E Hagberg, Thomas Schultz, et al.
Page
of 9