אקדמאים

UBTF Gain-of-Function

Heterozygous De Novo UBTF Gain-of-Function Variant
Is Associated with Neurodegeneration in Childhood. Click here to PDF 

Mutation in UBTF

A recurrent de novo missense mutation in UBTF causes
developmental neuroregression. 

Click here to PDF 

CONDBA

CONDBA is a severe progressive neurodegenerative disorder characterized by loss of motor and cognitive skills.

Click here for the entire report 

עיתונות

Error in one gene 

Mysterious children's neurological disease is traced to a single error in one gene.

Click here for the entire article 

Single Mutation

Scientists Notice Rare Children's Disease, Trace to Single Mutation

The sudden onset of neurological deterioration in youngsters has now been identified as a new genetic disease caused by a single mutation.

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Mysterious illness receives a diagnosis

Addison Cannon, 9, of Amherst, lost her ability to speak and walk from a very aggressive deterioration in her brain that left doctors baffled. 

Click here for the entire article 

המחלה החדשה שתוקפת ילדים

ההידרדרות קשה ומהירה: מקשיים בהליכה ועד למצב סיעודי הדורש טיפול צמוד • רופאים מבית־החולים הדסה וחוקרים מהאוניברסיטה העברית גילו מחלה גנטית חדשה • 

להמשך הכתבה, לחץ כאן

כתבות

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