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neurogenetics

Volume 20, Issue 3, August 2019

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

Tác giả

Shelisa Tey, Nortina Shahrizaila, Alexander P. Drew, Sarimah Samulong.

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

Tác giả

David B. Beck, T. Subramanian, S. Vijayalingam, Uthayashankar R. Ezekiel.

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

Tác giả

Maria Teresa Bonati, Chiara Castronovo, Alessandra Sironi.

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

Tác giả

Miaomiao Wang, Xinqing Zhang.

5. Spasmodic dysphonia as a presenting symptom of spinocerebellar ataxia type 12

Tác giả

Jessica Rossi, Francesco Cavallieri, Giada Giovannini, Carla Budriesi.

6. Spasmodic dysphonia as a presenting symptom of spinocerebellar ataxia type 12

Tác giả

Jessica Rossi, Francesco Cavallieri, Giada Giovannini, Carla Budriesi.

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

Tác giả

Marcello Scala, Giorgia Brigati, Chiara Fiorillo, Claudia Nesti.