Cohen Sarit

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Mutations in the TUBB4A gene have been identified so far in two neurodegenerative disorders with extremely different clinical features and course: whispering dysphonia, also known as dystonia type 4 (DYT4), and hypomyelination with atrophy of the basal ganglia and cerebellum (H-ABC). We describe a patient with slowly progressive spastic paraparesis,(More)
To repair a recurrent strangulated umbilical hernia in a cirrhotic patient with refractory ascites, we used a minimally invasive procedure. The laparoscopic repair included a release of the incarcerated small bowel loop and secure of a dual Gortex mesh onto the fascial rim. Our satisfactory long-term results should encourage surgeons to adapt this surgical(More)
Dear Sirs, We have read with interest the letter by Lohmann and Klein regarding our paper Expansion of the spectrum of TUBB4Arelated disorders: a new phenotype associated with a novel mutation in the TUBB4A gene. Lohmann and Klein expand our knowledge regarding the first family described with DYT4 dystonia in 1985 and agree with us that the more recently(More)
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