Expanding Phenotype of - Related Disorders: A Case Series
Neurologic disorders caused by mutations in the ATP1A3 gene were originally reported as three distinct rare clinical syndromes: Alternating Hemiplegia of Childhood (AHC), Rapid-onset Dystonia Parkinsonism (RDP) and Cerebellar ataxia, Areflexia, Pes cavus, Opticus atrophy and Sensorineural hearing lo...
Guardado en:
Autores principales: | Jelena De Vrieze MD, Ingrid M.B.H. van de Laar MD, PhD, Johanneke F. de Rijk-van Andel MD, PhD, Erik-Jan Kamsteeg MD, PhD, Irene A.W. Kotsopoulos MD, PhD, Stella A. de Man MD, PhD |
---|---|
Formato: | article |
Lenguaje: | EN |
Publicado: |
SAGE Publishing
2021
|
Materias: | |
Acceso en línea: | https://doaj.org/article/d07d7dc9bd334c7088482ef36bd11350 |
Etiquetas: |
Agregar Etiqueta
Sin Etiquetas, Sea el primero en etiquetar este registro!
|
Ejemplares similares
-
MET Amplification and Efficacy of Nivolumab in Patients With NSCLC
por: Katsuhiro Yoshimura, MD, PhD, et al.
Publicado: (2021) -
Fewer Intubations but Higher Mortality Among Intubated Coronavirus Disease 2019 Patients During the Second Than the First Wave
por: Christina Routsi, MD, PhD, et al.
Publicado: (2021) -
Conversion Surgery for Advanced Thoracic SMARCA4-Deficient Undifferentiated Tumor With Atezolizumab in Combination With Bevacizumab, Paclitaxel, and Carboplatin Treatment: A Case Report
por: Kei Kunimasa, MD, PhD, et al.
Publicado: (2021) -
IL-17A–Mediated Immune-Inflammatory Periarticular Mass and Osteolysis From Impingement in Ceramic-On-Ceramic Total Hip Arthroplasty
por: Tsunehito Ishida, MD, PhD, et al.
Publicado: (2021) -
Intracranial chondrosarcoma located in the region of the posterior clinoid process: a case report
por: Tomomichi Kayahara, MD, PhD, et al.
Publicado: (2022)