Search Results - "El‐Euch, Ghada"

LRRK2 Gly2019Ser penetrance in Arab–Berber patients from Tunisia: a case-control genetic study by Hulihan, Mary M, MPH, Ishihara-Paul, Lianna, PhD, Kachergus, Jennifer, BSc, Warren, Liling, PhD, Amouri, Rim, PhD, Elango, Ramu, PhD, Prinjha, Rab K, PhD, Upmanyu, Ruchi, MSc, Kefi, Mounir, MD, Zouari, Mourad, MD, Sassi, Samia Ben, MD, Yahmed, Samia Ben, MD, El Euch-Fayeche, Ghada, MD, Matthews, Paul M, PhD, Middleton, Lefkos T, MD, Gibson, Rachel A, PhD, Hentati, Fayçal, MD, Farrer, Matthew J, PhD

“…Summary Background Several genes have been implicated in the pathogenesis of Parkinson's disease (PD). The aim of this study was to define the clinical…”
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A comparative study of LRRK2, PINK1 and genetically undefined familial Parkinson's disease by Nishioka, Kenya, Kefi, Mounir, Jasinska-Myga, Barbara, Wider, Christian, Vilariño-Güell, Carles, Ross, Owen A, Heckman, Michael G, Middleton, Lefkos T, Ishihara-Paul, Lianna, Gibson, Rachel A, Amouri, Rim, Ben Yahmed, Samia, Ben Sassi, Samia, Zouari, Mourad, El Euch, Ghada, Farrer, Matthew J, Hentati, Faycal

“…Genetic classification of Parkinson's disease (PD) subtypes may become the preferred diagnostic tool for neurologists. Herein we compare clinical features from…”
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A recessive ataxia diagnosis algorithm for the next generation sequencing era by Renaud, Mathilde, Tranchant, Christine, Martin, Juan Vicente Torres, Mochel, Fanny, Synofzik, Matthis, van de Warrenburg, Bart, Pandolfo, Massimo, Koenig, Michel, Kolb, Stefan A., Anheim, Mathieu, Alonso, Isabel, Azzedine, Hamid, Barbot, Clara, Bereau, Matthieu, Berkovic, Sam, Bernard, Geneviéve, Bindoff, Laurence A., Bompaire, Flavie, Bonneau, Dominique, Bonneau, Patrizia, Boycott, Kym M., Bras, Jose, Brais, Bernard, Brigatti, Karlla W., Cameron, Jillian, Chamova, Teodora, Choquet, Karine, Delague, Valérie, Denizeau, Philippe, Dotti, Maria Teresa, El‐Euch, Ghada, Elmalik, Salah A., Federico, Antonio, Fiskerstrand, Torunn, Gagnon, Cynthia, Guerreiro, Rita, Guissart, Claire, Hassin‐Baer, Sharon, Heimdal, Ketil Riddervold, Héron, Bénédicte, Isohanni, Pirjo, Kalaydijeva, Luba, Kawarai, Toshitaka, Koht, Jeanette Aimee, Lai, Szu‐Chia, Piana, Roberta La, Lecocq, Claire, Linnankivi, Tarja, Lönnqvist, Tuula, Lu, Chin‐Song, Maas, Roderick, Mahlaoui, Nizar, Mallaret, Martial, Marelli, Cecilia, Mariotti, Caterina, Mathieu, Jean, Méneret, Aurélie, Mignarri, Andrea, Monin, Marie Lorraine, Montaut, Solveig, Nanetti, Lorenzo, Nadjar, Yann, Poujois, Aurélia, Salih, Mustafa A., Sousa, Sergio, Stanier, Philip, Stoppa‐Lyonnet, Dominique, Strauss, Kevin, Tallaksen, Chantal, Tarnopolsky, Mark, Tinant, Nadége, Tournev, Ivailo, Topaloglu, Haluk, Varhaug, Kristin Nielsen, Woimant, France, Wolf, Nicole I., Yahalom, Gilad, Yoon, Grace, Young, Millie

“…Objective Differential diagnosis of autosomal recessive cerebellar ataxias can be challenging. A ranking algorithm named RADIAL that predicts the molecular…”
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Screening for Lrrk2 G2019S and clinical comparison of Tunisian and North American Caucasian Parkinson's disease families by Ishihara, Lianna, Gibson, Rachel A., Warren, Liling, Amouri, Rim, Lyons, Kelly, Wielinski, Catherine, Hunter, Christine, Swartz, Jina E., Elango, Ramu, Akkari, P. Anthony, Leppert, David, Surh, Linda, Reeves, Kevin H., Thomas, Siwan, Ragone, Leigh, Hattori, Nobutaka, Pahwa, Rajesh, Jankovic, Joseph, Nance, Martha, Freeman, Alan, Gouider-Khouja, Neziha, Kefi, Mounir, Zouari, Mourad, Ben Sassi, Samia, Ben Yahmed, Samia, El Euch-Fayeche, Ghada, Middleton, Lefkos, Burn, David J., Watts, Ray L., Hentati, Faycal

“…Mutations in the leucine‐rich repeat kinase‐2 gene (LRRK2) are responsible for some forms of familial as well as sporadic Parkinson's disease (PD). The purpose…”
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Molecular, clinical and peripheral neuropathy study of Tunisian patients with ataxia with vitamin E deficiency by EL EUCH-FAYACHE, Ghada, BOUHLAL, Yosr, AMOURI, Rim, FEKI, Moncef, HENTATI, Fayçal

“…Ataxia with vitamin E deficiency is an autosomal recessive cerebellar ataxia caused by mutations in the α-tocopherol transfer protein coding gene localized on…”
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Comprehensive sequencing of the LRRK2 gene in patients with familial Parkinson's disease from North Africa by Jasinska-Myga, Barbara, Kachergus, Jennifer, Vilariño-Güell, Carles, Wider, Christian, Soto-Ortolaza, Alexandra I., Kefi, Mounir, Middleton, Lefkos T., Ishihara-Paul, Lianna, Gibson, Rachel A., Amouri, Rim, Yahmed, Samia Ben, Sassi, Samia Ben, Zouari, Mourad, Euch, Ghada El, Ross, Owen A., Hentati, Faycal, Farrer, Matthew J.

“…The LRRK2 gene is a key player in Parkinson's disease (PD), however prevalence and pathogenicity of LRRK2 variants remain to be investigated in ethnically…”
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Ataxia with vitamin E deficiency and abetalipoproteinemia by Hentati, Fayçal, El-Euch, Ghada, Bouhlal, Yosr, Amouri, Rim

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Autosomal recessive spastic ataxia of Charlevoix–Saguenay: An overview by Bouhlal, Yosr, Amouri, Rim, El Euch-Fayeche, Ghada, Hentati, Fayçal

“…Abstract Autosomal recessive spastic ataxia of Charlevoix–Saguenay (ARSACS) is a distinct form of hereditary early-onset spastic ataxia related to progressive…”
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Clinical features and molecular genetics of two Tunisian families with abetalipoproteinemia by Hammer, Monia Benhamed, El Euch-Fayache, Ghada, Nehdi, Houda, Feki, Moncef, Maamouri-Hicheri, Wieme, Hentati, Fayçal, Amouri, Rim

“…Abstract Abetalipoproteinemia (ABL) is a rare monogenic disease characterized by very low plasma levels of cholesterol and triglyceride and almost complete…”
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A Novel SACS Gene Mutation in a Tunisian Family by Bouhlal, Yosr, El Euch-Fayeche, Ghada, Hentati, Fayçal, Amouri, Rim

“…Autosomal recessive spastic ataxia of Charlevoix–Saguenay (ARSACS) is a distinct form of hereditary early-onset spastic ataxia. In 2000, the causative gene,…”
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Clinical and molecular findings of ataxia with oculomotor apraxia type 2 (AOA2) in 5 Tunisian families by Hammer, Monia Benhamed, El Euch-Fayache, Ghada, Nehdi, Houda, Saidi, Dalel, Nasri, Amira, Nabli, Fatma, Bouhlal, Yosr, Maamouri-Hicheri, Wieme, Hentati, Fayçal, Amouri, Rim

“…Ataxia with oculomotor apraxia type 2 (AOA2) is a recently described autosomal recessive cerebellar ataxia caused by mutations in the SETX gene. It is a rare…”
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Phenotypic features and genetic findings in sacsin-related autosomal recessive ataxia in Tunisia by El Euch-Fayache, Ghada, Lalani, Irfan, Amouri, Rim, Turki, Ilhem, Ouahchi, Karim, Hung, Wu-Yen, Belal, Samir, Siddique, Teepu, Hentati, Faycal

“…Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is a clinically homogenous disorder reported in Quebec caused by mutations in the SACS gene…”
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