Ausgabe 2/2022
Inhalt (8 Artikel)
A novel homozygous variant in RNF170 causes hereditary spastic paraplegia: a case report and review of the literature
Eliane Chouery, Cybel Mehawej, Andre Megarbane
Altered pituitary morphology as a sign of benign hereditary chorea caused by TITF1/NKX2.1 mutations
Steffi Thust, Liana Veneziano, Michael H. Parkinson, Kailash P. Bhatia, Elide Mantuano, Cristina Gonzalez-Robles, Indran Davagnanam, Paola Giunti
Experiences in the molecular genetic and histopathological evaluation of calpainopathies
Berk Ozyilmaz, Ozgur Kirbiyik, Taha R. Ozdemir, Ozge Kaya Ozer, Yasar B. Kutbay, Kadri M. Erdogan, Merve Saka Guvenc, Şener Arıkan, Tuba Sozen Turk, Murat Yıldırım Kale, Irem Fatma Uludag, Figen Baydan, Filiz Sertpoyraz, Pinar Gencpinar, Gulden Diniz
Clinical, neuroradiological, and molecular characterization of patients with atypical Zellweger spectrum disorder caused by PEX16 mutations: a case series
Anthony Cheung, Catherine Argyriou, Christine Yergeau, Yasmin D’Souza, Émilie Riou, Sébastien Lévesque, Gerald Raymond, Mebratu Daba, Irakli Rtskhiladze, Tinatin Tkemaladze, Laura Adang, Roberta La Piana, Geneviève Bernard, Nancy Braverman
An intronic GNAO1 variant leading to in-frame insertion cause movement disorder controlled by deep brain stimulation
Sachiko Miyamoto, Mitsuko Nakashima, Shinobu Fukumura, Satoko Kumada, Hirotomo Saitsu
Detection of copy number variants and genes by chromosomal microarray in an Emirati neurodevelopmental disorders cohort
Nasna Nassir, Isra Sati, Shaiban Al Shaibani, Awab Ahmed, Omar Almidani, Hosneara Akter, Marc Woodbury-Smith, Ahmad Abou Tayoun, Mohammed Uddin, Ammar Albanna
Novel biallelic variants in NRROS associated with a lethal microgliopathy, brain calcifications, and neurodegeneration
Julia Macintosh, Alexa Derksen, Chantal Poulin, Nancy Braverman, Adeline Vanderver, Isabelle Thiffault, Steffen Albrecht, Geneviève Bernard
A novel compound heterozygous mutation in GALC associated with adult-onset Krabbe disease: case report and literature review
Salvatore Iacono, Elda Del Giudice, Alberta Leon, Vincenzo La Bella, Rossella Spataro