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Showing results (71-80 of 90) with videos related to

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Parkinsonism & Related Disorders|October 6, 2020
Delineating the motor phenotype of SGCE-myoclonus dystonia syndromeMaria I Vanegas, Anna Marcé-Grau, Laura Martí-Sánchez, et al.
Journal of Neuromuscular Diseases|May 18, 2020
Evaluation of Genotypes and Epidemiology of Spinal Muscular Atrophy in Greece: A Nationwide Study Spanning 24 YearsKyriaki Kekou, Maria Svingou, Christalena Sofocleous, et al.
Epilepsia Open|September 11, 2020
Glut1 Deficiency Syndrome (Glut1DS): State of the art in 2020 and recommendations of the international Glut1DS study groupJoerg Klepper, Cigdem Akman, Marisa Armeno, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|September 2, 2022
The Genetic Landscape of Complex Childhood-Onset Hyperkinetic Movement DisordersBelén Pérez-Dueñas, Kathleen Gorman, Anna Marcé-Grau, et al.
Orphanet Journal of Rare Diseases|May 28, 2020
Consensus guideline for the diagnosis and treatment of tetrahydrobiopterin (BH<sub>4</sub>) deficienciesThomas Opladen, Eduardo López-Laso, Elisenda Cortès-Saladelafont, et al.
Orphanet Journal of Rare Diseases|August 8, 2020
Correction to: Consensus guideline for the diagnosis and treatment of tetrahydrobiopterin (BH4) deficienciesThomas Opladen, Eduardo López-Laso, Elisenda Cortès-Saladelafont, et al.
Neurology|April 19, 2023
Prospective Multicenter Validation of a Simple Blood Test for the Diagnosis of Glut1 Deficiency SyndromeFanny Mochel, Domitille Gras, Marie-Pierre Luton, et al.
Journal of Inherited Metabolic Disease|July 15, 2023
Levodopa-refractory hyperprolactinemia and pituitary findings in inherited disorders of biogenic amine metabolismYılmaz Yıldız, Oya Kuseyri Hübschmann, Ayça Akgöz Karaosmanoğlu, et al.
Nature Communications|September 21, 2021
Insights into the expanding phenotypic spectrum of inherited disorders of biogenic aminesOya Kuseyri Hübschmann, Gabriella Horvath, Elisenda Cortès-Saladelafont, et al.
Journal of Inherited Metabolic Disease|January 14, 2021
Brain MR patterns in inherited disorders of monoamine neurotransmitters: An analysis of 70 patientsOya Kuseyri Hübschmann, Alexander Mohr, Jennifer Friedman, et al.
Pageof 9

Showing results (71-80 of 90) with videos related to

Sort By:
Pageof 9
Parkinsonism & Related Disorders|October 6, 2020
Delineating the motor phenotype of SGCE-myoclonus dystonia syndromeMaria I Vanegas, Anna Marcé-Grau, Laura Martí-Sánchez, et al.
Journal of Neuromuscular Diseases|May 18, 2020
Evaluation of Genotypes and Epidemiology of Spinal Muscular Atrophy in Greece: A Nationwide Study Spanning 24 YearsKyriaki Kekou, Maria Svingou, Christalena Sofocleous, et al.
Epilepsia Open|September 11, 2020
Glut1 Deficiency Syndrome (Glut1DS): State of the art in 2020 and recommendations of the international Glut1DS study groupJoerg Klepper, Cigdem Akman, Marisa Armeno, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|September 2, 2022
The Genetic Landscape of Complex Childhood-Onset Hyperkinetic Movement DisordersBelén Pérez-Dueñas, Kathleen Gorman, Anna Marcé-Grau, et al.
Orphanet Journal of Rare Diseases|May 28, 2020
Consensus guideline for the diagnosis and treatment of tetrahydrobiopterin (BH<sub>4</sub>) deficienciesThomas Opladen, Eduardo López-Laso, Elisenda Cortès-Saladelafont, et al.
Orphanet Journal of Rare Diseases|August 8, 2020
Correction to: Consensus guideline for the diagnosis and treatment of tetrahydrobiopterin (BH4) deficienciesThomas Opladen, Eduardo López-Laso, Elisenda Cortès-Saladelafont, et al.
Neurology|April 19, 2023
Prospective Multicenter Validation of a Simple Blood Test for the Diagnosis of Glut1 Deficiency SyndromeFanny Mochel, Domitille Gras, Marie-Pierre Luton, et al.
Journal of Inherited Metabolic Disease|July 15, 2023
Levodopa-refractory hyperprolactinemia and pituitary findings in inherited disorders of biogenic amine metabolismYılmaz Yıldız, Oya Kuseyri Hübschmann, Ayça Akgöz Karaosmanoğlu, et al.
Nature Communications|September 21, 2021
Insights into the expanding phenotypic spectrum of inherited disorders of biogenic aminesOya Kuseyri Hübschmann, Gabriella Horvath, Elisenda Cortès-Saladelafont, et al.
Journal of Inherited Metabolic Disease|January 14, 2021
Brain MR patterns in inherited disorders of monoamine neurotransmitters: An analysis of 70 patientsOya Kuseyri Hübschmann, Alexander Mohr, Jennifer Friedman, et al.
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