Zobrazeno 1 - 10
of 65
pro vyhledávání: '"Jaber Lyahyai"'
Autor:
Youssef El Kadiri, Ilham Ratbi, Mouna Ouhenach, Siham Chafai Elalaoui, Imane Cherkaoui Jaouad, Abdelali Zrhidri, Maryem Sahli, Nazha Birouk, Abdelaziz Sefiani, Jaber Lyahyai
Publikováno v:
Egyptian Journal of Medical Human Genetics, Vol 24, Iss 1, Pp 1-17 (2023)
Abstract Background Congenital muscular dystrophies (CMD) and congenital myopathies (CM) are clinically and genetically heterogeneous groups of neuromuscular disorders resulting in prenatal or early-onset hypotonia, muscle weakness, myogenic pattern,
Externí odkaz:
https://doaj.org/article/0aac02b2513d4411aa5311dea64c94a8
Publikováno v:
BMC Neurology, Vol 22, Iss 1, Pp 1-9 (2022)
Abstract Background Congenital myasthenic syndromes (CMSs) are rare genetic diseases due to abnormalities of the neuromuscular junction leading to permanent or transient muscle fatigability and weakness. To date, 32 genes were found to be involved in
Externí odkaz:
https://doaj.org/article/e15bf9b62e19425a8c18e46f8a16af4a
Autor:
Youssef El Kadiri, Ilham Ratbi, Fatima Zahra Laarabi, Yamna Kriouile, Abdelaziz Sefiani, Jaber Lyahyai
Publikováno v:
BMC Medical Genomics, Vol 14, Iss 1, Pp 1-6 (2021)
Abstract Background Merosin-deficient congenital muscular dystrophy type 1A (MDC1A) is a rare autosomal recessive genetic condition caused by deleterious mutations in the LAMA2 gene encoding the laminin-α2 chain. It is the most frequent subtype of c
Externí odkaz:
https://doaj.org/article/1e269c2d80634cc7a78c86be9f9b1a76
Novel mutation in the TGFBI gene in a Moroccan family with atypical corneal dystrophy: a case report
Autor:
Yahya Benbouchta, Imane Cherkaoui Jaouad, Habiba Tazi, Hamza Elorch, Mouna Ouhenach, Abdelali Zrhidri, Khalid Sadki, Abdelaziz Sefiani, Jaber Lyahyai, Amina Berraho
Publikováno v:
BMC Medical Genomics, Vol 14, Iss 1, Pp 1-8 (2021)
Abstract Background Corneal dystrophies (CDs) are a heterogeneous group of bilateral, genetically determined, noninflammatory bilateral corneal diseases that are usually limited to the cornea. CD is characterized by a large variability in the age of
Externí odkaz:
https://doaj.org/article/7c52627b1ce74bbcb18ecde957b01844
Autor:
Maryem Sahli, Abdelali Zrhidri, Siham Chafai Elaloui, Wiam Smaili, Jaber Lyahyai, Fatima Zohra Oudghiri, Abdelaziz Sefiani
Publikováno v:
Journal of Medical Case Reports, Vol 13, Iss 1, Pp 1-4 (2019)
Abstract Background Epilepsy is the most common neurological disorder that causes spontaneous, unprovoked, and recurrent seizures. Epilepsy is clinically and genetically heterogeneous with various modes of inheritance. The complexity of epilepsy pres
Externí odkaz:
https://doaj.org/article/f14cf80f3a81429baa12ad5e0a598c86
Autor:
Imane Cherkaoui Jaouad, Abdelali Zrhidri, Wafaa Jdioui, Jaber Lyahyai, Laure Raymond, Grégory Egéa, Mohamed Taoudi, Said El Mouatassim, Abdelaziz Sefiani
Publikováno v:
BMC Medical Genetics, Vol 19, Iss 1, Pp 1-5 (2018)
Abstract Background Autosomal recessive primary microcephaly (MCPH) is a rare genetically heterogeneous disorder of neurogenic brain development characterized by a reduced head circumference at birth with no remarkable anomalies of brain architecture
Externí odkaz:
https://doaj.org/article/196ce69523b143688964aa9e70701aa6
Autor:
Jaber Lyahyai, Bouchra Ouled Amar Bencheikh, Siham C. Elalaoui, Maria Mansouri, Lamia Boualla, Alexandre DIonne-Laporte, Dan Spiegelman, Patrick A. Dion, Patrick Cossette, Guy A. Rouleau, Abdelaziz Sefiani
Publikováno v:
BMC Pediatrics, Vol 18, Iss 1, Pp 1-4 (2018)
Abstract Background Epilepsy regroups a common and diverse set of chronic neurological disorders that are characterized by spontaneous, unprovoked, and recurrent epileptic seizures. Epilepsies have a highly heterogeneous background with a strong gene
Externí odkaz:
https://doaj.org/article/f733086834174ca782859d8ca61c842e
Autor:
Abdelali Zrhidri, Saadia Amasdl, Jaber Lyahyai, Hanane Elouardi, Bouchra Chkirate, Laure Raymond, Grégory Egéa, Mohamed Taoudi, Said El Mouatassim, Abdelaziz Sefiani
Publikováno v:
Pediatric Rheumatology Online Journal, Vol 15, Iss 1, Pp 1-6 (2017)
Abstract Background Scleroderma is a multisystem disease, characterized by fibrosis of skin and internal organs, immune dysregulation, and vasculopathy. The etiology of the disease remains unknown, but it is likely multifactorial. However, the geneti
Externí odkaz:
https://doaj.org/article/27d28f4c1c0c4a92b08b62c0ea7daab3
Autor:
Ilham Ratbi, Jaber Lyahyai, Meryem Kabiri, Meryem Banouar, Maria Zerkaoui, Amina Barkat, Abdelaziz Sefiani
Publikováno v:
Annals of Saudi Medicine, Vol 35, Iss 2, Pp 170-172 (2015)
Sanjad-Sakati syndrome (SSS) or hypoparathyroidism-retardation-dysmorphism syndrome (HDR) is a rare autosomal recessive disorder. It is characterized by the association of congenital hypothyroidism, growth retardation, psychomotor retardation, epilep
Externí odkaz:
https://doaj.org/article/b472249b2d27465799b0413e4b9d1f31
Autor:
Cristina Acín, Inmaculada Martín-Burriel, Eva Monleón, Jaber Lyahyai, José Luis Pitarch, Carmen Serrano, Marta Monzón, Pilar Zaragoza, Juan José Badiola
Publikováno v:
PLoS ONE, Vol 8, Iss 4, p e61118 (2013)
Classical scrapie is a neurological disorder of the central nervous system (CNS) characterized by the accumulation of an abnormal, partially protease resistant prion protein (PrP(sc)) in the CNS and in some peripheral tissues in domestic small rumina
Externí odkaz:
https://doaj.org/article/314169c3ae26454484147b64d297776c