R
Rim Amouri
Researcher at Tunis University
Publications - 50
Citations - 2070
Rim Amouri is an academic researcher from Tunis University. The author has contributed to research in topics: Ataxia & Gene mutation. The author has an hindex of 26, co-authored 49 publications receiving 1834 citations. Previous affiliations of Rim Amouri include French Institute of Health and Medical Research.
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Journal ArticleDOI
LRRK2 Gly2019Ser penetrance in Arab–Berber patients from Tunisia: a case-control genetic study
Mary M. Hulihan,Lianna Ishihara-Paul,Jennifer M. Kachergus,Liling Warren,Rim Amouri,Ramu Elango,Rab K. Prinjha,Ruchi Upmanyu,M. Kefi,Mourad Zouari,Samia Ben Sassi,Samia Ben Yahmed,Ghada El Euch-Fayeche,Paul M. Matthews,Lefkos T. Middleton,Rachel A. Gibson,Fayçal Hentati,Matthew J. Farrer +17 more
TL;DR: The clinical symptoms and age-associated cumulative incidence of the most frequent mutation associated with PD, LRRK2 Gly2019Ser, are defined and this mutation considerably increases susceptibility to neuronal degeneration, although the process might be mediated by many triggers.
Journal ArticleDOI
Clinicogenetic study of mutations in LRRK2 exon 41 in Parkinson's disease patients from 18 countries
Hiroyuki Tomiyama,Yuanzhe Li,Manabu Funayama,Kazuko Hasegawa,Hiroyo Yoshino,Shin-ichiro Kubo,Kenichi Sato,Tatsuya Hattori,Chin-Song Lu,Rivka Inzelberg,Ruth Djaldetti,Eldad Melamed,Rim Amouri,N. Gouider-Khouja,Fayçal Hentati,Yasuko Hatano,Mei Wang,Yoko Imamichi,Koichi Mizoguchi,Hiroaki Miyajima,Fumiya Obata,Tatsushi Toda,Matthew J. Farrer,Yoshikuni Mizuno,Nobutaka Hattori +24 more
TL;DR: Clinical phenotypes including psychosis, dementia, and MIBG ratios are also heterogeneous, similar to neuropathology, in PD associated with LRRK2 mutations, and I2020T mutation has a single‐founder effect in Japanese patients.
Journal ArticleDOI
Mutations in GBA2 Cause Autosomal-Recessive Cerebellar Ataxia with Spasticity
Monia B. Hammer,Ghada Eleuch-Fayache,Lucia Schottlaender,Houda Nehdi,J. Raphael Gibbs,J. Raphael Gibbs,Sampath Arepalli,Sean B. Chong,Dena G. Hernandez,Dena G. Hernandez,A Sailer,Guoxiang Liu,Pramod K. Mistry,Huaibin Cai,Ginamarie Shrader,Celeste Sassi,Celeste Sassi,Yosr Bouhlal,Henry Houlden,Fayçal Hentati,Rim Amouri,Andrew B. Singleton +21 more
TL;DR: This study suggests GBA2 mutations are a cause of recessive spastic ataxia and responsible for a form of glucosylceramide storage disease in humans.
Journal ArticleDOI
Clinical features of Parkinson disease patients with homozygous leucine-rich repeat kinase 2 G2019S mutations.
Lianna Ishihara,Liling Warren,Rachel A. Gibson,Rim Amouri,Suzanne Lesage,Suzanne Lesage,Alexandra Durr,Alexandra Durr,Meriem Tazir,Zbigniew K. Wszolek,Ryan J. Uitti,William C. Nichols,Alida Griffith,Nobutaka Hattori,David Leppert,Ray L. Watts,Cyrus P. Zabetian,Tatiana Foroud,Matthew J. Farrer,Alexis Brice,Alexis Brice,Lefkos T. Middleton,Fayçal Hentati +22 more
TL;DR: Parkinson disease related to LRRK2 is characterized by typical clinical features, and the similarities between patients with homozygous and heterozygous mutations do not support a gene dosage effect.
Journal ArticleDOI
Autosomal recessive parkinsonism linked to parkin gene in a Tunisian family. Clinical, genetic and pathological study
N. Gouider-Khouja,A. Larnaout,Rim Amouri,Sana Sfar,Samir Belal,Christiane Ben Hamida,Mongi Ben Hamida,Nobutaka Hattori,Yoshikuni Mizuno,Fayçal Hentati +9 more
TL;DR: This Tunisian kindred with AR-JP linked to a micro-deletion of the parkin gene shows clinical similarities with the previously reported Japanese and European families.