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Zeitschrift

neurogenetics

neurogenetics 3/2019

Ausgabe 3/2019

Inhaltsverzeichnis ( 6 Artikel )

22.04.2019 | Original Article | Ausgabe 3/2019

Linkage analysis and whole exome sequencing reveals AHNAK2 as a novel genetic cause for autosomal recessive CMT in a Malaysian family

Shelisa Tey, Nortina Shahrizaila, Alexander P. Drew, Sarimah Samulong, Khean-Jin Goh, Esra Battaloglu, Derek Atkinson, Yesim Parman, Albena Jordanova, Ki Wha Chung, Byung-Ok Choi, Yi-Chung Li, Michaela Auer-Grumbach, Garth A. Nicholson, Marina L. Kennerson, Azlina Ahmad-Annuar

30.04.2019 | Original Article | Ausgabe 3/2019

A pathogenic CtBP1 missense mutation causes altered cofactor binding and transcriptional activity

David B. Beck, T. Subramanian, S. Vijayalingam, Uthayashankar R. Ezekiel, Sandra Donkervoort, Michele L. Yang, Holly A. Dubbs, Xilma R. Ortiz-Gonzalez, Shenela Lakhani, Devorah Segal, Margaret Au, John M. Graham Jr, Sumit Verma, Darrel Waggoner, Marwan Shinawi, Carsten G. Bönnemann, Wendy K. Chung, G. Chinnadurai

17.06.2019 | Original Article | Ausgabe 3/2019

9q34.3 microduplications lead to neurodevelopmental disorders through EHMT1 overexpression

Maria Teresa Bonati, Chiara Castronovo, Alessandra Sironi, Dario Zimbalatti, Ilaria Bestetti, Milena Crippa, Antonio Novelli, Sara Loddo, Maria Lisa Dentici, Juliet Taylor, Françoise Devillard, Lidia Larizza, Palma Finelli

16.05.2019 | Short Communication | Ausgabe 3/2019 Open Access

A novel CSF-1R mutation in a family with hereditary diffuse leukoencephalopathy with axonal spheroids misdiagnosed as hydrocephalus

Miaomiao Wang, Xinqing Zhang

13.06.2019 | Short Communication | Ausgabe 3/2019

Spasmodic dysphonia as a presenting symptom of spinocerebellar ataxia type 12

Jessica Rossi, Francesco Cavallieri, Giada Giovannini, Carla Budriesi, Annalisa Gessani, Miryam Carecchio, Daniela Di Bella, Elisa Sarto, Jessica Mandrioli, Sara Contardi, Stefano Meletti

02.07.2019 | Short Communication | Ausgabe 3/2019

Novel homozygous TSFM pathogenic variant associated with encephalocardiomyopathy with sensorineural hearing loss and peculiar neuroradiologic findings

Marcello Scala, Giorgia Brigati, Chiara Fiorillo, Claudia Nesti, Anna Rubegni, Marina Pedemonte, Claudio Bruno, Mariasavina Severino, Maria Derchi, Carlo Minetti, F. M. Santorelli

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