Neurocutaneous disorders, also known as phakomatoses, are congenital and acquired
syndromes resulting in simultaneous neurologic and cutaneous involvement. In several of …

Objectives: Screen for the abnormal ataxia-telangiectasia mutated gene in the etiology of
ataxia-telangiectasia. Implement appropriate genetic testing to diagnose ataxia …

Ataxia telangiectasia (AT) is a rare, multisystem progressive condition that typically presents
in early childhood. In the absence of cure, people with AT require coordinated …

Background Neurogenetic disorders (NGDs) are complex Mendelian disorders that affect
the neurological system. A molecular diagnosis will provide more information about …

We present a case study of an 8-year-old girl with autosomal recessive spastic ataxia of
Charlevoix-Saguenay, who experienced gait imbalance since the age of two. Magnetic …

Bu çalışma herediter ataksili çocuklarda video oyun tabanlı egzersiz eğitiminin denge ve
yürüyüşe olan etkisini incelemek amacıyla yapıldı. Çalışmaya katılan 13 ataksili çocuk, basit …

Amaç: Louis-Bar sendromu olarak da bilinen Ataksi Telenjiektazi (AT), serebellar ataksi,
okülokütanöz telenjiektaziler ve immün yetmezlikle karakterize olup nadir görülen otozomal …

Аннотация Первичные иммунодефициты (ПИД) представляют собой генетически
обусловленные дефекты иммунной системы. Несмотря на значительные успехи в …

Purpose: This case report investigated the effectiveness of an individualized physical
therapy program in CALFAN syndrome. Case Description: A 13-year-old girl participated in …

Bégel, V.; Bachrach, A.; Dalla Bella, S.; Laroche, J.; Clément, S.; Riquet, A.; Dellacherie, D.
2021.«Dance improves motor, cognitive, and social skills in children with developmental …