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Auteur Abadi N |
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Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Sifi Y ; Sifi K ; Bestandji K ; Boulefkhad A ; Abadi N ; Benlatreche C ; Hamri A | 2008Introduction: Spinal muscular atrophy (SMA) is one of the most common autosomal recessive disorders, characterized by degeneration of anterior horn cells in the spinal cord, and leads to progressive muscular weakness and atrophy In the present s[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Sifi Y ; Sifi K ; Abadi N ; Benlatreche C ; Koeing M ; Hamri A | 2008INTRODUCTION Myotonic dystrophy (MD1).is the most common form of adult muscular dystrophy with autosomal dominant transmission. It is an inherited disease in which there is an abnormal expansion of CTG trinucleotide repeat at 19q13.3. It is mani[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Sifi Y ; Sifi K ; Boulefkhad A ; Abadi N ; Benlatreche C ; Hamri A | 2008Introduction: Pompe disease (PD), is caused by a deficiency of the enzyme lysosomal, acid-glucosidase (GAA) resulting in the accumulation of glycogen primarily in muscle tissue. The clinical presentation of (PD) is variable with respect to the a[...]