DOI: 10.1055/s-00000041

Neuropediatrics

Ausgabe 03 · Volume 55 · Juni 2024 DOI: 10.1055/s-014-59593

Review Article

149
Almomen, Momen; Burgon, Patrick G.: Why Craniofacial Surgeons/Researchers Need to be Aware of Native American Myopathy?
156
Öz Yıldız, Sibel; Yalnızoğlu, Dilek; Şimsek Kiper, Pelin Özlem; Göçmen, Rahşan; Soğukpınar, Merve; Utine, Gülen Eda; Haliloğlu, Göknur: Delineation of ADPRHL2 Variants: Report of Two New Patients with Review of the Literature
Supplementary Material

Original Article

166
Almomen, Momen; Amer, Fawzia; Alfaraj, Fatima; Burgon, Patrick G.; Bashir, Shahid; Alghamdi, Fouad: STAC3-related myopathy: A Report of a Cohort of Seven Saudi Arabian Patients
171
Kutlutürk Yıkılmaz, Seval; Tanrıverdi, Müberra; Öktem, Sedat: Reliability and Validity of the Turkish Translation of the PedsQL™ 3.0 Neuromuscular Module for 2-to 4-Year-Olds in Spinal Muscular Atrophy
178
Gao, Xin; Xin, Guoyan; Tu, Ya; Liang, Xiaoping; Yang, Huimin; Meng, Hong; Wang, Yumin: TARS2 Variants Cause Combination Oxidative Phosphorylation Deficiency-21: A Case Report and Literature Review
183
Pais-Cunha, Inês; Almeida, Ana I.; Curval, Ana R.; Fonseca, Jacinta; Melo, Cláudia; Sampaio, Mafalda; Sousa, Raquel: Cerebral Venous Thrombosis in Pediatric Age: Risk Factors and Prognosis

Case Report

191
Pasca, Ludovica; Politano, Davide; Cavallini, Anna; Panzeri, Elena; Vigone, Maria Cristina; Baldoli, Cristina; Abbate, Marco; Kullmann, Gaia; Marelli, Susan; Pozzobon, Gabriella; Vincenzi, Gaia; Nacinovich, Renata; Bassi, Maria Teresa; Romaniello, Romina: A Novel De novo Heterozygous Mutation in the SON Gene Associated with Septo-optic Dysplasia: A New Phenotype
Supplementary Material

Short Communication

196
Menke, C.; Wieland, I.; Bueltmann, E.; Illsinger, S.; Hartmann, H.: Anterior Spinal Artery Syndrome Due to Fibrocartilaginous Embolism—Case Report and Treatment Options
200
Yıldırım, Miraç; Yarenci, Gülçin Bilicen; Genç, Mustafa Berk; Uçar, Çiğdem İlter; Bayav, Secahattin; Tekin, Merve Nur; Bektaş, Ömer; Teber, Serap: VAMP1-Related Congenital Myasthenic Syndrome: A Case Report and Literature Review
205
Kahl, Niklas; Lüsebrink, Natalia; Schubert-Bast, Susanne; Freiman, Thomas M.; Kieslich, Matthias: Bilateral Foramina Parietalia Permagna – A Calvarial Defect Caused by Haploinsufficiency of the Msh Homeobox 2 Gene: A Case Report and Current Literature Review
Supplementary Material
209
Gebert, Johannes; Brunet, Theresa; Wagner, Matias; Rath, Jakob; Aull-Watschinger, Susanne; Pataraia, Ekaterina; Krenn, Martin: A Homozygous PTRHD1 Missense Variant (p.Arg122Gln) in an Individual with Intellectual Disability, Generalized Epilepsy, and Juvenile Parkinsonism

Videos and Images in Neuropediatrics

213
Freitas, Leonardo Furtado; Miranda, Eduardo Carvalho; Amaro, Aline Pimentel; Narvaez, Eduardo de Oliveira; Duarte, Márcio Luís: Tuberomammillary Fusion and Moya-Moya Vasculopathy Associated with PHACE Syndrome
215
Zaddach, Malin; Wagner, Johanna; Kunz, Mathias; Paolini, Marco; Borggraefe, Ingo; Heinen, Florian: Colloid Cyst Causing Massive Headache Attacks