Search Results - "Miladi, N"

Neonatal onset of a Canavan disease in a Li/INS;by/INS;an non-Jewish Ashke/INS;nazi patient by Nagi, S, Miladi, N

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Existence and nonexistence of periodic solution and Hopf bifurcation of a tourism-based social–ecological system by Monfared, Z., Dadi, Z., Miladi Lari, N., Afsharnezhad, Z.

“…This paper is devoted to analyze dynamical behavior of a four-dimensional nonlinear tourism-based social–ecological system by using the Hopf bifurcation…”
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Molecular characterization of MPS IIIA, MPS IIIB and MPS IIIC in Tunisian patients by Ouesleti, S., Brunel, V., Turkia, H. Ben, Dranguet, H., Miled, A., Miladi, N., Dridi, M.F. Ben, Lavoinne, A., Saugier-Veber, P., Bekri, S.

“…Sanfilippo syndrome (mucopolysaccharidosis type III, MPS III) is a progressive disorder in which patients are characterized by severe central nervous system…”
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41P Rigid spine syndrome revealing nemaline myopathy caused by a novel mutation in cofilin-2 gene (CFL2) by Farhat, E., Miladi, N., Chaabouni, M.

“…Rigid spine syndrome is a classically childhood-onset progressive and non-painful limitation of the neck and trunk flexion leading to postural abnormalities…”
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Phenotypic spectrum of fucosidosis in Tunisia by Turkia, H. Ben, Tebib, N., Azzouz, H., Abdelmoula, M. S., Bouguila, J., Sanhaji, H., Miladi, N., Maire, I., Caillaud, C., Kaabachi, N., Ben Dridi, M. F.

“…Summary Fucosidosis (OMIM 230000) is a rare autosomal recessive lysosomal disorder due to deficient α- l -fucosidase activity(EC 3.2.1.51), leading to the…”
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90P Genetic heterogeneity of limb girdle myopathies in Tunisia: more than sarcoglycanopathies by Farhat, E., Miladi, N., Chaabouni, M., Amouri, R., Leturcq, F.

“…Limb girdle myopathies (LGM) form a group of clinically and genetically heterogeneous diseases responsible of progressive weakness predominantly affecting the…”
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Strabisme, nystagmus et hypotonie globale chez un nourrisson de 7 mois by Nagi, S., Brahim, I., Hammami, N., Drissi, C., Ben Ammou, B., Miladi, N., Ben Hamouda, M.

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Strabismus, nystagmus, and generalized hypotonia in a 7-month-old child by Nagi, S, Brahim, I, Hammami, N, Drissi, C, Ben Ammou, B, Miladi, N, Ben Hamouda, M

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Intrafamilial phenotypic variability of Hallervorden–Spätz syndrome in a Tunisian family by Gouider-Khouja, N, Miladi, N, Belal, S, Hentati, F

“…We report clinical features, CT-scan and MRI findings of three siblings with Hallervorden–Spätz disease, one of them followed for more than 20 years. Patient 1…”
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Étude de l’efficience des mécanismes inhibiteurs chez des patients arabophones avec lésions frontales by Ouerchefani, R, Bellaj, T, Miladi, N, Ben Rejeb, M.R, Le Gall, D

“…Résumé L’objectif de notre travail est de réétudier l’effet de la pathologie frontale sur les processus inhibiteurs examinés par une adaptation arabophone des…”
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PP4.8 – 1602 Neonatal onset of a Canavan disease in a Lybian non jewish ashkenazi patient by Lakhdhar, I, Nagi, S, Miladi, N

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PP6.4 – 1601 Aicardi-Goutieres syndrome in a Lybian family by Lakhdhar, I, Turki, I, Miladi, N

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Juvenile form of dihydropteridine reductase deficiency in 2 Tunisian patients by Larnaout, A, Belal, S, Miladi, N, Kaabachi, N, Mebazza, A, Dhondt, J L, Hentati, F

“…Two brothers are described who had juvenile-onset DHPR deficiency. Both were considered normal until six years of age when they developed a fluctuating and…”
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Duchenne muscular dystrophy in Tunisia: a clinical and morphological study of 77 cases by Ben Hamida, M, Miladi, N, Turki, I, Zaiem, H

“…Two types of progressive muscular dystrophy occur in Tunisian children. The first type is characterized by normal dystrophin assays and affects girls and boys…”
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Signe de « la dent molaire » : aspect caractéristique en IRM du syndrome de Joubert by Nagi, S., Brahim, I., Hammami, N., Drissi, C., Ben Ammou, B., Miladi, N., Ben Hamouda, M.

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Cognitive and psychological profile of a Tunisian population of severe childhood autosomal recessive muscular dystrophy (SCARMD) by Miladi, N., Bourguignon, J.P., Hentati, F.

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346 Cognitive and psychological profile of a Tunisian population of limb girdle muscular dystrophy by Miladi, N., Bourguignon, J.-P., Hentati, F.

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Progressive encephalomyelitis with rigidity presenting as a stiff-person syndrome by Gouider-Khouja, Neziha, Mekaouar, Aouatef, Larnaout, Abdelmajid, Miladi, Najoua, Khelifa, Fethi Ben, Hentati, Fayçal

“…Diagnosis criteria of stiff-person syndrome (SPS) include progressive, fluctuating muscular rigidity and spasms with normal neurological examination. The…”
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Cognitive and psychological profile of a Tunisian population of limb girdle muscular dystrophy by Miladi, Najoua, Bourguignon, Jean-Pierre, Hentati, Fayçal

“…This study assesses the cognitive functioning of a Tunisian population suffering from limb girdle muscular dystrophy (LGMD). The population was randomly…”
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Treatment of infantile spasms by Miladi, N

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