Year |
Citation |
Score |
2017 |
Hammer MB, Ding J, Mochel F, Eleuch-Fayache G, Charles P, Coutelier M, Gibbs JR, Arepalli SK, Chong SB, Hernandez DG, Majounie E, Clipman S, Bouhlal Y, Nehdi H, Brice A, ... Hentati F, et al. SLC25A46 Mutations Associated with Autosomal Recessive Cerebellar Ataxia in North African Families. Neuro-Degenerative Diseases. 17: 208-212. PMID 28558379 DOI: 10.1159/000464445 |
0.414 |
|
2016 |
Trinh J, Gustavsson EK, Vilariño-Güell C, Bortnick S, Latourelle J, McKenzie MB, Tu CS, Nosova E, Khinda J, Milnerwood A, Lesage S, Brice A, Tazir M, Aasly JO, Parkkinen L, ... ... Hentati F, et al. DNM3 and genetic modifiers of age of onset in LRRK2 Gly2019Ser parkinsonism: a genome-wide linkage and association study. The Lancet. Neurology. PMID 27692902 DOI: 10.1016/S1474-4422(16)30203-4 |
0.346 |
|
2014 |
El Euch-Fayache G, Bouhlal Y, Amouri R, Feki M, Hentati F. Molecular, clinical and peripheral neuropathy study of Tunisian patients with ataxia with vitamin E deficiency. Brain : a Journal of Neurology. 137: 402-10. PMID 24369383 DOI: 10.1093/Brain/Awt339 |
0.389 |
|
2014 |
Vilariño-Güell C, Rajput A, Milnerwood AJ, Shah B, Szu-Tu C, Trinh J, Yu I, Encarnacion M, Munsie LN, Tapia L, Gustavsson EK, Chou P, Tatarnikov I, Evans DM, Pishotta FT, ... ... Hentati F, et al. DNAJC13 mutations in Parkinson disease. Human Molecular Genetics. 23: 1794-801. PMID 24218364 DOI: 10.1093/Hmg/Ddt570 |
0.417 |
|
2014 |
Hammer MB, El Euch-Fayache G, Nehdi H, Feki M, Maamouri-Hicheri W, Hentati F, Amouri R. Clinical features and molecular genetics of two Tunisian families with abetalipoproteinemia. Journal of Clinical Neuroscience : Official Journal of the Neurosurgical Society of Australasia. 21: 311-5. PMID 24139731 DOI: 10.1016/J.Jocn.2013.04.016 |
0.44 |
|
2013 |
Heckman MG, Soto-Ortolaza AI, Aasly JO, Abahuni N, Annesi G, Bacon JA, Bardien S, Bozi M, Brice A, Brighina L, Carr J, Chartier-Harlin MC, Dardiotis E, Dickson DW, Diehl NN, ... ... Hentati F, et al. Population-specific frequencies for LRRK2 susceptibility variants in the Genetic Epidemiology of Parkinson's Disease (GEO-PD) Consortium. Movement Disorders : Official Journal of the Movement Disorder Society. 28: 1740-4. PMID 23913756 DOI: 10.1002/Mds.25600 |
0.372 |
|
2013 |
Trinh J, Vilariño-Güell C, Donald A, Shah B, Yu I, Szu-Tu C, Aasly JO, Wu RM, Hentati F, Rajput AH, Rajput A, Farrer MJ. STX6 rs1411478 is not associated with increased risk of Parkinson's disease. Parkinsonism & Related Disorders. 19: 563-5. PMID 23415606 DOI: 10.1016/J.Parkreldis.2013.01.019 |
0.357 |
|
2013 |
Hammer MB, Eleuch-Fayache G, Schottlaender LV, Nehdi H, Gibbs JR, Arepalli SK, Chong SB, Hernandez DG, Sailer A, Liu G, Mistry PK, Cai H, Shrader G, Sassi C, Bouhlal Y, ... ... Hentati F, et al. Mutations in GBA2 cause autosomal-recessive cerebellar ataxia with spasticity. American Journal of Human Genetics. 92: 245-51. PMID 23332917 DOI: 10.1016/J.Ajhg.2012.12.012 |
0.428 |
|
2013 |
Ben Ammar A, Soltanzadeh P, Bauché S, Richard P, Goillot E, Herbst R, Gaudon K, Huzé C, Schaeffer L, Yamanashi Y, Higuchi O, Taly A, Koenig J, Leroy JP, Hentati F, et al. A mutation causes MuSK reduced sensitivity to agrin and congenital myasthenia. Plos One. 8: e53826. PMID 23326516 DOI: 10.1371/Journal.Pone.0053826 |
0.397 |
|
2013 |
Hammer MB, Eleuch-Fayache G, Gibbs JR, Arepalli SK, Chong SB, Sassi C, Bouhlal Y, Hentati F, Amouri R, Singleton AB. Exome sequencing: an efficient diagnostic tool for complex neurodegenerative disorders. European Journal of Neurology : the Official Journal of the European Federation of Neurological Societies. 20: 486-92. PMID 23043354 DOI: 10.1111/J.1468-1331.2012.03883.X |
0.4 |
|
2012 |
Hammer MB, El Euch-Fayache G, Nehdi H, Saidi D, Nasri A, Nabli F, Bouhlal Y, Maamouri-Hicheri W, Hentati F, Amouri R. Clinical and molecular findings of ataxia with oculomotor apraxia type 2 (AOA2) in 5 Tunisian families. Diagnostic Molecular Pathology : the American Journal of Surgical Pathology, Part B. 21: 241-5. PMID 23111195 DOI: 10.1097/Pdm.0B013E318257Ad9A |
0.441 |
|
2011 |
Chartier-Harlin MC, Dachsel JC, Vilariño-Güell C, Lincoln SJ, Leprêtre F, Hulihan MM, Kachergus J, Milnerwood AJ, Tapia L, Song MS, Le Rhun E, Mutez E, Larvor L, Duflot A, Vanbesien-Mailliot C, ... ... Hentati F, et al. Translation initiator EIF4G1 mutations in familial Parkinson disease. American Journal of Human Genetics. 89: 398-406. PMID 21907011 DOI: 10.1016/J.Ajhg.2011.08.009 |
0.373 |
|
2011 |
Vilariño-Güell C, Wider C, Ross OA, Dachsel JC, Kachergus JM, Lincoln SJ, Soto-Ortolaza AI, Cobb SA, Wilhoite GJ, Bacon JA, Behrouz B, Melrose HL, Hentati E, Puschmann A, Evans DM, ... ... Hentati F, et al. VPS35 mutations in Parkinson disease. American Journal of Human Genetics. 89: 162-7. PMID 21763482 DOI: 10.1016/j.ajhg.2011.06.001 |
0.42 |
|
2011 |
Bouhlal Y, Amouri R, El Euch-Fayeche G, Hentati F. Autosomal recessive spastic ataxia of Charlevoix-Saguenay: an overview. Parkinsonism & Related Disorders. 17: 418-22. PMID 21450511 DOI: 10.1016/J.Parkreldis.2011.03.005 |
0.434 |
|
2011 |
Bouhlal Y, Jennewein DM, Anderson B, Reynoldson J, Maamouri W, Hentati F, Amouri R, Lushbough C. Computational analysis of a novel SACS gene mutation with BioExtract server. Journal of Molecular Neuroscience : Mn. 44: 53-8. PMID 21416271 DOI: 10.1007/S12031-011-9512-8 |
0.364 |
|
2011 |
Maamouri W, Hammer MB, Bouhlel Y, Souilem S, Khmiri N, Nehdi H, Hentati F, Amouri R. Spinal muscular atrophy due to double gene conversion event. The International Journal of Neuroscience. 121: 107-11. PMID 21047176 DOI: 10.3109/00207454.2010.529209 |
0.339 |
|
2011 |
Souilem S, Chebel S, Mancuso M, Petrozzi L, Siciliano G, FrihAyed M, Hentati F, Amouri R. A novel mitochondrial tRNA(Ile) point mutation associated with chronic progressive external ophthalmoplegia and hyperCKemia. Journal of the Neurological Sciences. 300: 187-90. PMID 20884012 DOI: 10.1016/J.Jns.2010.08.065 |
0.306 |
|
2011 |
H'mida-Ben Brahim D, M'zahem A, Assoum M, Bouhlal Y, Fattori F, Anheim M, Ali-Pacha L, Ferrat F, Chaouch M, Lagier-Tourenne C, Drouot N, Thibaut C, Benhassine T, Sifi Y, Stoppa-Lyonnet D, ... ... Hentati F, et al. Molecular diagnosis of known recessive ataxias by homozygosity mapping with SNP arrays. Journal of Neurology. 258: 56-67. PMID 20798953 DOI: 10.1007/S00415-010-5682-5 |
0.469 |
|
2010 |
Nishioka K, Vilariño-Güell C, Cobb SA, Kachergus JM, Ross OA, Hentati E, Hentati F, Farrer MJ. Genetic variation of the mitochondrial complex I subunit NDUFV2 and Parkinson's disease. Parkinsonism & Related Disorders. 16: 686-7. PMID 20971673 DOI: 10.1016/J.Parkreldis.2010.09.007 |
0.35 |
|
2010 |
Jasinska-Myga B, Kachergus J, Vilariño-Güell C, Wider C, Soto-Ortolaza AI, Kefi M, Middleton LT, Ishihara-Paul L, Gibson RA, Amouri R, Yahmed SB, Sassi SB, Zouari M, El Euch G, Ross OA, ... Hentati F, et al. Comprehensive sequencing of the LRRK2 gene in patients with familial Parkinson's disease from North Africa. Movement Disorders : Official Journal of the Movement Disorder Society. 25: 2052-8. PMID 20721913 DOI: 10.1002/Mds.23283 |
0.369 |
|
2010 |
Souilem S, Kefi M, Mancuso M, Nesti C, Hentati F, Amouri R. A novel heteroplasmic tRNA Ser(UCN) mtDNA point mutation associated with progressive ophthalmoplegia and dysphagia. Diagnostic Molecular Pathology : the American Journal of Surgical Pathology, Part B. 19: 28-32. PMID 20186009 DOI: 10.1097/Pdm.0B013E3181B00F02 |
0.336 |
|
2010 |
Dachsel JC, Nishioka K, Vilariño-Güell C, Lincoln SJ, Soto-Ortolaza AI, Kachergus J, Hinkle KM, Heckman MG, Jasinska-Myga B, Taylor JP, Dickson DW, Gibson RA, Hentati F, Ross OA, Farrer MJ. Heterodimerization of Lrrk1-Lrrk2: Implications for LRRK2-associated Parkinson disease. Mechanisms of Ageing and Development. 131: 210-4. PMID 20144646 DOI: 10.1016/J.Mad.2010.01.009 |
0.4 |
|
2010 |
Ben Ammar A, Petit F, Alexandri N, Gaudon K, Bauché S, Rouche A, Gras D, Fournier E, Koenig J, Stojkovic T, Lacour A, Petiot P, Zagnoli F, Viollet L, Pellegrini N, ... ... Hentati F, et al. Phenotype genotype analysis in 15 patients presenting a congenital myasthenic syndrome due to mutations in DOK7. Journal of Neurology. 257: 754-66. PMID 20012313 DOI: 10.1007/S00415-009-5405-Y |
0.411 |
|
2010 |
Nishioka K, Vilariño-Güell C, Cobb SA, Kachergus JM, Ross OA, Wider C, Gibson RA, Hentati F, Farrer MJ. Glucocerebrosidase mutations are not a common risk factor for Parkinson disease in North Africa. Neuroscience Letters. 477: 57-60. PMID 19945510 DOI: 10.1016/J.Neulet.2009.11.066 |
0.375 |
|
2010 |
Nishioka K, Kefi M, Jasinska-Myga B, Wider C, Vilariño-Güell C, Ross OA, Heckman MG, Middleton LT, Ishihara-Paul L, Gibson RA, Amouri R, Ben Yahmed S, Ben Sassi S, Zouari M, El Euch G, ... ... Hentati F, et al. A comparative study of LRRK2, PINK1 and genetically undefined familial Parkinson's disease. Journal of Neurology, Neurosurgery, and Psychiatry. 81: 391-5. PMID 19726410 DOI: 10.1136/Jnnp.2009.185231 |
0.434 |
|
2009 |
Amouri R, Nehdi H, Bouhlal Y, Kefi M, Larnaout A, Hentati F. Allelic ROBO3 heterogeneity in Tunisian patients with horizontal gaze palsy with progressive scoliosis. Journal of Molecular Neuroscience : Mn. 39: 337-41. PMID 19633821 DOI: 10.1007/S12031-009-9217-4 |
0.463 |
|
2009 |
Bouhlal Y, El Euch-Fayeche G, Hentati F, Amouri R. A novel SACS gene mutation in a Tunisian family. Journal of Molecular Neuroscience : Mn. 39: 333-6. PMID 19529988 DOI: 10.1007/S12031-009-9212-9 |
0.414 |
|
2009 |
Vilariño-Güell C, Wider C, Soto-Ortolaza AI, Cobb SA, Kachergus JM, Keeling BH, Dachsel JC, Hulihan MM, Dickson DW, Wszolek ZK, Uitti RJ, Graff-Radford NR, Boeve BF, Josephs KA, Miller B, ... ... Hentati F, et al. Characterization of DCTN1 genetic variability in neurodegeneration. Neurology. 72: 2024-8. PMID 19506225 DOI: 10.1212/Wnl.0B013E3181A92C4C |
0.31 |
|
2009 |
Vilariño-Güell C, Soto AI, Lincoln SJ, Ben Yahmed S, Kefi M, Heckman MG, Hulihan MM, Chai H, Diehl NN, Amouri R, Rajput A, Mash DC, Dickson DW, Middleton LT, Gibson RA, ... Hentati F, et al. ATP13A2 variability in Parkinson disease. Human Mutation. 30: 406-10. PMID 19085912 DOI: 10.1002/Humu.20877 |
0.36 |
|
2008 |
Richard P, Gaudon K, Haddad H, Ammar AB, Genin E, Bauché S, Paturneau-Jouas M, Müller JS, Lochmüller H, Grid D, Hamri A, Nouioua S, Tazir M, Mayer M, Desnuelle C, ... ... Hentati F, et al. The CHRNE 1293insG founder mutation is a frequent cause of congenital myasthenia in North Africa. Neurology. 71: 1967-72. PMID 19064877 DOI: 10.1212/01.Wnl.0000336921.51639.0B |
0.473 |
|
2008 |
Larnaout A, Amouri R, Kefi M, Hentati F. L-2-hydroxyglutaric aciduria: clinical and molecular study in three Tunisian families. Identification of a new mutation and inter-familial phenotype variability. Journal of Inherited Metabolic Disease. 31: S375-9. PMID 18780161 DOI: 10.1007/s10545-008-0934-6 |
0.337 |
|
2008 |
Ishihara-Paul L, Hulihan MM, Kachergus J, Upmanyu R, Warren L, Amouri R, Elango R, Prinjha RK, Soto A, Kefi M, Zouari M, Sassi SB, Yahmed SB, El Euch-Fayeche G, Matthews PM, ... ... Hentati F, et al. PINK1 mutations and parkinsonism. Neurology. 71: 896-902. PMID 18685134 DOI: 10.1212/01.wnl.0000323812.40708.1f |
0.311 |
|
2008 |
Bouhlal Y, Zouari M, Kefi M, Ben Hamida C, Hentati F, Amouri R. Autosomal recessive ataxia caused by three distinct gene defects in a single consanguineous family. Journal of Neurogenetics. 22: 139-48. PMID 18569450 DOI: 10.1080/01677060802025233 |
0.45 |
|
2008 |
Hulihan MM, Ishihara-Paul L, Kachergus J, Warren L, Amouri R, Elango R, Prinjha RK, Upmanyu R, Kefi M, Zouari M, Sassi SB, Yahmed SB, El Euch-Fayeche G, Matthews PM, Middleton LT, ... ... Hentati F, et al. LRRK2 Gly2019Ser penetrance in Arab-Berber patients from Tunisia: a case-control genetic study. The Lancet. Neurology. 7: 591-4. PMID 18539535 DOI: 10.1016/S1474-4422(08)70116-9 |
0.322 |
|
2008 |
Tsaousidou MK, Ouahchi K, Warner TT, Yang Y, Simpson MA, Laing NG, Wilkinson PA, Madrid RE, Patel H, Hentati F, Patton MA, Hentati A, Lamont PJ, Siddique T, Crosby AH. Sequence alterations within CYP7B1 implicate defective cholesterol homeostasis in motor-neuron degeneration. American Journal of Human Genetics. 82: 510-5. PMID 18252231 DOI: 10.1016/J.Ajhg.2007.10.001 |
0.31 |
|
2008 |
Warren L, Gibson R, Ishihara L, Elango R, Xue Z, Akkari A, Ragone L, Pahwa R, Jankovic J, Nance M, Freeman A, Watts RL, Hentati F. A founding LRRK2 haplotype shared by Tunisian, US, European and Middle Eastern families with Parkinson's disease. Parkinsonism & Related Disorders. 14: 77-80. PMID 17433753 DOI: 10.1016/j.parkreldis.2007.02.001 |
0.327 |
|
2007 |
Ishihara L, Gibson RA, Warren L, Amouri R, Lyons K, Wielinski C, Hunter C, Swartz JE, Elango R, Akkari PA, Leppert D, Surh L, Reeves KH, Thomas S, Ragone L, ... ... Hentati F, et al. Screening for Lrrk2 G2019S and clinical comparison of Tunisian and North American Caucasian Parkinson's disease families. Movement Disorders : Official Journal of the Movement Disorder Society. 22: 55-61. PMID 17115391 DOI: 10.1002/Mds.21180 |
0.421 |
|
2006 |
Ishihara L, Warren L, Gibson R, Amouri R, Lesage S, Dürr A, Tazir M, Wszolek ZK, Uitti RJ, Nichols WC, Griffith A, Hattori N, Leppert D, Watts R, Zabetian CP, ... ... Hentati F, et al. Clinical features of Parkinson disease patients with homozygous leucine-rich repeat kinase 2 G2019S mutations. Archives of Neurology. 63: 1250-4. PMID 16966502 DOI: 10.1001/Archneur.63.9.1250 |
0.412 |
|
2006 |
Stum M, Davoine CS, Vicart S, Guillot-Noël L, Topaloglu H, Carod-Artal FJ, Kayserili H, Hentati F, Merlini L, Urtizberea JA, Hammouda el-H, Quan PC, Fontaine B, Nicole S. Spectrum of HSPG2 (Perlecan) mutations in patients with Schwartz-Jampel syndrome. Human Mutation. 27: 1082-91. PMID 16927315 DOI: 10.1002/Humu.20388 |
0.387 |
|
2006 |
Tomiyama H, Li Y, Funayama M, Hasegawa K, Yoshino H, Kubo S, Sato K, Hattori T, Lu CS, Inzelberg R, Djaldetti R, Melamed E, Amouri R, Gouider-Khouja N, Hentati F, et al. Clinicogenetic study of mutations in LRRK2 exon 41 in Parkinson's disease patients from 18 countries. Movement Disorders : Official Journal of the Movement Disorder Society. 21: 1102-8. PMID 16622854 DOI: 10.1002/Mds.20886 |
0.384 |
|
2006 |
Fendri K, Kefi M, Hentati F, Amouri R. Genetic heterogeneity within a consanguineous family involving the LGMD 2D and the LGMD 2C genes. Neuromuscular Disorders : Nmd. 16: 316-20. PMID 16616845 DOI: 10.1016/j.nmd.2006.02.007 |
0.32 |
|
2005 |
Bouhlal Y, El-Euch-Fayeche G, Amouri R, Hentati F. Distinct phenotypes within autosomal recessive ataxias not linked to already known loci. Acta Myologica : Myopathies and Cardiomyopathies : Official Journal of the Mediterranean Society of Myology / Edited by the Gaetano Conte Academy For the Study of Striated Muscle Diseases. 24: 155-61. PMID 16550933 |
0.382 |
|
2005 |
Amouri R, Driss A, Murayama K, Kefi M, Nishino I, Hentati F. Allelic heterogeneity of GNE gene mutation in two Tunisian families with autosomal recessive inclusion body myopathy. Neuromuscular Disorders : Nmd. 15: 361-3. PMID 15833430 DOI: 10.1016/J.Nmd.2005.01.012 |
0.469 |
|
2004 |
Amouri R, Moreira MC, Zouari M, El Euch G, Barhoumi C, Kefi M, Belal S, Koenig M, Hentati F. Aprataxin gene mutations in Tunisian families. Neurology. 63: 928-9. PMID 15365154 |
0.353 |
|
2003 |
Kefi M, Amouri R, Driss A, Ben Hamida C, Ben Hamida M, Kunkel LM, Hentati F. Phenotype and sarcoglycan expression in Tunisian LGMD 2C patients sharing the same del521-T mutation. Neuromuscular Disorders : Nmd. 13: 779-87. PMID 14678800 DOI: 10.1016/S0960-8966(03)00136-6 |
0.435 |
|
2003 |
Ammar N, Nelis E, Merlini L, Barisić N, Amouri R, Ceuterick C, Martin JJ, Timmerman V, Hentati F, De Jonghe P. Identification of novel GDAP1 mutations causing autosomal recessive Charcot-Marie-Tooth disease. Neuromuscular Disorders : Nmd. 13: 720-8. PMID 14561495 DOI: 10.1016/S0960-8966(03)00093-2 |
0.424 |
|
2003 |
El Euch-Fayache G, Lalani I, Amouri R, Turki I, Ouahchi K, Hung WY, Belal S, Siddique T, Hentati F. Phenotypic features and genetic findings in sacsin-related autosomal recessive ataxia in Tunisia. Archives of Neurology. 60: 982-8. PMID 12873855 DOI: 10.1001/Archneur.60.7.982 |
0.471 |
|
2003 |
Gouider-Khouja N, Larnaout A, Amouri R, Sfar S, Belal S, Ben Hamida C, Ben Hamida M, Hattori N, Mizuno Y, Hentati F. Autosomal recessive parkinsonism linked to parkin gene in a Tunisian family. Clinical, genetic and pathological study. Parkinsonism & Related Disorders. 9: 247-51. PMID 12781588 DOI: 10.1016/S1353-8020(03)00016-6 |
0.479 |
|
2003 |
Driss A, Noguchi S, Amouri R, Kefi M, Sasaki T, Sugie K, Souilem S, Hayashi YK, Shimizu N, Minoshima S, Kudoh J, Hentati F, Nishino I. Fukutin-related protein gene mutated in the original kindred limb-girdle MD 2I. Neurology. 60: 1341-4. PMID 12707439 DOI: 10.1212/01.Wnl.0000065886.82930.C5 |
0.423 |
|
2002 |
Gouider-Khouja N, Mekaouar A, Larnaout A, Miladi N, Ben Khelifa F, Hentati F. Progressive encephalomyelitis with rigidity presenting as a stiff-person syndrome. Parkinsonism & Related Disorders. 8: 285-8. PMID 12039424 DOI: 10.1016/S1353-8020(01)00047-5 |
0.312 |
|
2002 |
Baxter RV, Ben Othmane K, Rochelle JM, Stajich JE, Hulette C, Dew-Knight S, Hentati F, Ben Hamida M, Bel S, Stenger JE, Gilbert JR, Pericak-Vance MA, Vance JM. Ganglioside-induced differentiation-associated protein-1 is mutant in Charcot-Marie-Tooth disease type 4A/8q21. Nature Genetics. 30: 21-2. PMID 11743579 DOI: 10.1038/Ng796 |
0.424 |
|
2001 |
Yang Y, Hentati A, Deng HX, Dabbagh O, Sasaki T, Hirano M, Hung WY, Ouahchi K, Yan J, Azim AC, Cole N, Gascon G, Yagmour A, Ben-Hamida M, Pericak-Vance M, ... Hentati F, et al. The gene encoding alsin, a protein with three guanine-nucleotide exchange factor domains, is mutated in a form of recessive amyotrophic lateral sclerosis. Nature Genetics. 29: 160-5. PMID 11586297 DOI: 10.1038/Ng1001-160 |
0.407 |
|
2001 |
Marzouki N, Belal S, Benhamida C, Benlemlih M, Hentati F. Genetic analysis of early onset cerebellar ataxia with retained tendon reflexes in four Tunisian families. Clinical Genetics. 59: 257-62. PMID 11298681 DOI: 10.1034/j.1399-0004.2001.590407.x |
0.401 |
|
2001 |
Larnaout A, El-Euch G, Kchir N, Filali A, Hamida MB, Hentati F. Wernicke's encephalopathy in a patient with Crohn's disease: a pathological study. Journal of Neurology. 248: 57-60. PMID 11266021 DOI: 10.1007/s004150170270 |
0.612 |
|
2001 |
Barhoumi C, Amouri R, Ben Hamida C, Ben Hamida M, Machghoul S, Gueddiche M, Hentati F. Linkage of a new locus for autosomal recessive axonal form of Charcot-Marie-Tooth disease to chromosome 8q21.3. Neuromuscular Disorders : Nmd. 11: 27-34. PMID 11166163 DOI: 10.1016/S0960-8966(00)00162-0 |
0.402 |
|
2000 |
Nicole S, Davoine CS, Topaloglu H, Cattolico L, Barral D, Beighton P, Hamida CB, Hammouda H, Cruaud C, White PS, Samson D, Urtizberea JA, Lehmann-Horn F, Weissenbach J, Hentati F, et al. Perlecan, the major proteoglycan of basement membranes, is altered in patients with Schwartz-Jampel syndrome (chondrodystrophic myotonia). Nature Genetics. 26: 480-3. PMID 11101850 DOI: 10.1038/82638 |
0.43 |
|
2000 |
Hentati A, Deng HX, Zhai H, Chen W, Yang Y, Hung WY, Azim AC, Bohlega S, Tandan R, Warner C, Laing NG, Cambi F, Mitsumoto H, Roos RP, Boustany RM, ... ... Hentati F, et al. Novel mutations in spastin gene and absence of correlation with age at onset of symptoms. Neurology. 55: 1388-90. PMID 11087788 DOI: 10.1212/Wnl.55.9.1388 |
0.337 |
|
2000 |
Bomont P, Cavalier L, Blondeau F, Ben Hamida C, Belal S, Tazir M, Demir E, Topaloglu H, Korinthenberg R, Tüysüz B, Landrieu P, Hentati F, Koenig M. The gene encoding gigaxonin, a new member of the cytoskeletal BTB/kelch repeat family, is mutated in giant axonal neuropathy. Nature Genetics. 26: 370-4. PMID 11062483 DOI: 10.1038/81701 |
0.365 |
|
2000 |
Cavalier L, BenHamida C, Amouri R, Belal S, Bomont P, Lagarde N, Gressin L, Callen D, Demir E, Topaloglu H, Landrieu P, Ioos C, Hamida MB, Koenig M, Hentati F. Giant axonal neuropathy locus refinement to a < 590 kb critical interval. European Journal of Human Genetics : Ejhg. 8: 527-34. PMID 10909853 DOI: 10.1038/sj.ejhg.5200476 |
0.683 |
|
2000 |
Driss A, Amouri R, Ben Hamida C, Souilem S, Gouider-Khouja N, Ben Hamida M, Hentati F. A new locus for autosomal recessive limb-girdle muscular dystrophy in a large consanguineous Tunisian family maps to chromosome 19q13.3. Neuromuscular Disorders : Nmd. 10: 240-6. PMID 10838249 DOI: 10.1016/S0960-8966(00)00099-7 |
0.474 |
|
2000 |
Gouider-Khouja N, Miladi N, Belal S, Hentati F. Intrafamilial phenotypic variability of Hallervorden-Spätz syndrome in a Tunisian family. Parkinsonism & Related Disorders. 6: 175-179. PMID 10817958 DOI: 10.1016/S1353-8020(99)00060-7 |
0.338 |
|
2000 |
Gouider-Khouja N, Belal S, Hamida MB, Hentati F. Clinical and genetic study of familial Parkinson's disease in Tunisia. Neurology. 54: 1603-9. PMID 10762501 DOI: 10.1212/Wnl.54.8.1603 |
0.668 |
|
2000 |
Mrissa N, Belal S, Hamida CB, Amouri R, Turki I, Mrissa R, Hamida MB, Hentati F. Linkage to chromosome 13q11-12 of an autosomal recessive cerebellar ataxia in a Tunisian family. Neurology. 54: 1408-14. PMID 10751248 DOI: 10.1212/Wnl.54.7.1408 |
0.726 |
|
1999 |
Othmane KB, Johnson E, Menold M, Graham FL, Hamida MB, Hasegawa O, Rogala AD, Ohnishi A, Pericak-Vance M, Hentati F, Vance JM. Identification of a new locus for autosomal recessive Charcot-Marie-Tooth disease with focally folded myelin on chromosome 11p15. Genomics. 62: 344-9. PMID 10644431 DOI: 10.1006/Geno.1999.6028 |
0.714 |
|
1999 |
Nicole S, White PS, Topaloglu H, Beigthon P, Salih M, Hentati F, Fontaine B. The human CDC42 gene: genomic organization, evidence for the existence of a putative pseudogene and exclusion as a SJS1 candidate gene. Human Genetics. 105: 98-103. PMID 10480361 DOI: 10.1007/S004399900065 |
0.391 |
|
1998 |
Hentati A, Ouahchi K, Pericak-Vance MA, Nijhawan D, Ahmad A, Yang Y, Rimmler J, Hung W, Schlotter B, Ahmed A, Ben Hamida M, Hentati F, Siddique T. Linkage of a commoner form of recessive amyotrophic lateral sclerosis to chromosome 15q15-q22 markers. Neurogenetics. 2: 55-60. PMID 9933301 DOI: 10.1007/S100480050052 |
0.434 |
|
1998 |
Hosler BA, Sapp PC, Berger R, O'Neill G, Bejaoui K, Hamida MB, Hentati F, Chin W, McKenna-Yasek D, Haines JL, Patterson D, Horvitz HR, Brown RH, Day CB. Refined mapping and characterization of the recessive familial amyotrophic lateral sclerosis locus (ALS2) on chromosome 2q33. Neurogenetics. 2: 34-42. PMID 9933298 DOI: 10.1007/S100480050049 |
0.716 |
|
1998 |
Ben Othmane K, Rochelle JM, Ben Hamida M, Slotterbeck B, Rao N, Hentati F, Pericak-Vance MA, Vance JM. Fine localization of the CMT4A locus using a PAC contig and haplotype analysis. Neurogenetics. 2: 18-23. PMID 9933296 DOI: 10.1007/S100480050047 |
0.441 |
|
1998 |
Miladi N, Larnaout A, Dhondt JL, Vincent MF, Kaabachi N, Hentati F. Dihydropteridine reductase deficiency in a large consanguineous Tunisian family: clinical, biochemical, and neuropathologic findings. Journal of Child Neurology. 13: 475-80. PMID 9796752 DOI: 10.1177/088307389801301002 |
0.35 |
|
1998 |
Liu J, Aoki M, Illa I, Wu C, Fardeau M, Angelini C, Serrano C, Urtizberea JA, Hentati F, Hamida MB, Bohlega S, Culper EJ, Amato AA, Bossie K, Oeltjen J, et al. Dysferlin, a novel skeletal muscle gene, is mutated in Miyoshi myopathy and limb girdle muscular dystrophy. Nature Genetics. 20: 31-6. PMID 9731526 DOI: 10.1038/1682 |
0.711 |
|
1998 |
Bönnemann CG, Wong J, Ben Hamida C, Hamida MB, Hentati F, Kunkel LM. LGMD 2E in Tunisia is caused by a homozygous missense mutation in beta-sarcoglycan exon 3. Neuromuscular Disorders : Nmd. 8: 193-7. PMID 9631401 DOI: 10.1016/S0960-8966(98)00014-5 |
0.694 |
|
1998 |
Liu J, Wu C, Bossie K, Bejaoui K, Hosler BA, Gingrich JC, Ben Hamida M, Hentati F, Schurr E, de Jong PJ, Brown RH. Generation of a 3-Mb PAC contig spanning the Miyoshi myopathy/limb-girdle muscular dystrophy (MM/LGMD2B) locus on chromosome 2p13. Genomics. 49: 23-9. PMID 9570945 DOI: 10.1006/Geno.1998.5204 |
0.39 |
|
1998 |
David G, Dürr A, Stevanin G, Cancel G, Abbas N, Benomar A, Belal S, Lebre AS, Abada-Bendib M, Grid D, Holmberg M, Yahyaoui M, Hentati F, Chkili T, Agid Y, et al. Molecular and clinical correlations in autosomal dominant cerebellar ataxia with progressive macular dystrophy (SCA7). Human Molecular Genetics. 7: 165-70. PMID 9425222 DOI: 10.1093/Hmg/7.2.165 |
0.442 |
|
1997 |
Ben Hamida C, Cavalier L, Belal S, Sanhaji H, Nadal N, Barhoumi C, M'Rissa N, Marzouki N, Mandel JL, Ben Hamida M, Koenig M, Hentati F. Homozygosity mapping of giant axonal neuropathy gene to chromosome 16q24.1. Neurogenetics. 1: 129-33. PMID 10732815 DOI: 10.1007/S100480050019 |
0.452 |
|
1997 |
Cancel G, Dürr A, Didierjean O, Imbert G, Bürk K, Lezin A, Belal S, Benomar A, Abada-Bendib M, Vial C, Guimarães J, Chneiweiss H, Stevanin G, Yvert G, Abbas N, ... ... Hentati F, et al. Molecular and clinical correlations in spinocerebellar ataxia 2: a study of 32 families. Human Molecular Genetics. 6: 709-15. PMID 9158145 DOI: 10.1093/Hmg/6.5.709 |
0.447 |
|
1997 |
Hamida CB, Cavalier L, Belal S, Sanhaji H, Nadal N, Barhoumi C, Mrissa N, Maarzouki N, Mandel J, Hamida MB, Koenig M, Hentati F. Giant axonal neuropathy: clinical study and genetic mapping Neuromuscular Disorders. 7: 467. DOI: 10.1016/S0960-8966(97)87324-5 |
0.328 |
|
1997 |
Othmane KB, Rochelle JM, Johnson E, Hamida MB, Pericak-Vance MA, Hentati F, Vance JM. Clinical and genetic aspects of autosomal recessive CMT Neuromuscular Disorders. 7: 464-465. DOI: 10.1016/S0960-8966(97)87315-4 |
0.668 |
|
1997 |
Zouari M, Hamida CB, Belal S, Turki I, Hamida MB, Hentati F. Hereditary sensory neuropathy associated with muscular atrophy affecting 7 members of one kindred Neuromuscular Disorders. 7: 456. DOI: 10.1016/S0960-8966(97)87280-X |
0.331 |
|
1997 |
Zouari M, Turki I, Belal S, Hamida CB, Hamida MB, Hentati F. Clinical, electrophysiological and histological analysis in 4 patients with hereditary sensory neuropathy and pyramidal syndrome Neuromuscular Disorders. 7: 455-456. DOI: 10.1016/S0960-8966(97)87279-3 |
0.326 |
|
1996 |
Ben Hamida M, Ben Hamida C, Zouari M, Belal S, Hentati F. Limb-girdle muscular dystrophy 2C: clinical aspects. Neuromuscular Disorders : Nmd. 6: 493-4. PMID 9027861 DOI: 10.1016/S0960-8966(96)00395-1 |
0.406 |
|
1996 |
Fontaine B, Nicole S, Topaloglu H, Ben Hamida C, Beighton P, Spaans F, Cantu JM, Bakouri S, Romero N, Ricker K, Barros-Nunez P, Ponsot G, Ben Hamida M, Weissenbach J, Hentati F, et al. Recessive Schwartz-Jampel syndrome (SJS): confirmation of linkage to chromosome 1p, evidence of genetic homogeneity and reduction of the SJS locus to a 3-cM interval. Human Genetics. 98: 380-5. PMID 8707312 DOI: 10.1007/S004390050225 |
0.474 |
|
1995 |
Nicole S, Hamida CB, Beighton P, Bakouri S, Belal S, Romero N, Viljoen D, Ponsot G, Sammoud A, Weissenbach J, Fardeau M, Hamida MB, Fontaine B, Hentati F. Localization of the schwartz-jampel syndrome (SJS) locus to chromosome 1p34-p36.1 by homozygosity mapping Human Molecular Genetics. 4: 1633-1636. PMID 8541852 DOI: 10.1093/Hmg/4.9.1633 |
0.708 |
|
1995 |
Doerflinger N, Linder C, Ouahchi K, Gyapay G, Weissenbach J, Le Paslier D, Rigault P, Belal S, Ben Hamida C, Hentati F. Ataxia with vitamin E deficiency: refinement of genetic localization and analysis of linkage disequilibrium by using new markers in 14 families. American Journal of Human Genetics. 56: 1116-24. PMID 7726167 |
0.364 |
|
1995 |
Bejaoui K, Hirabayashi K, Hentati F, Haines JL, Ben Hamida C, Belal S, Miller RG, McKenna-Yasek D, Weissenbach J, Rowland LP. Linkage of Miyoshi myopathy (distal autosomal recessive muscular dystrophy) locus to chromosome 2p12-14. Neurology. 45: 768-72. PMID 7723968 DOI: 10.1212/Wnl.45.4.768 |
0.332 |
|
1995 |
Ouahchi K, Arita M, Kayden H, Hentati F, Ben Hamida M, Sokol R, Arai H, Inoue K, Mandel JL, Koenig M. Ataxia with isolated vitamin E deficiency is caused by mutations in the alpha-tocopherol transfer protein. Nature Genetics. 9: 141-5. PMID 7719340 DOI: 10.1038/Ng0295-141 |
0.39 |
|
1995 |
Noguchi S, McNally EM, Ben Othmane K, Hagiwara Y, Mizuno Y, Yoshida M, Yamamoto H, Bönnemann CG, Gussoni E, Denton PH, Kyriakides T, Middleton L, Hentati F, Ben Hamida M, Nonaka I, et al. Mutations in the dystrophin-associated protein gamma-sarcoglycan in chromosome 13 muscular dystrophy. Science (New York, N.Y.). 270: 819-22. PMID 7481775 DOI: 10.1126/Science.270.5237.819 |
0.456 |
|
1994 |
Rodius F, Duclos F, Wrogemann K, Le Paslier D, Ougen P, Billault A, Belal S, Musenger C, Brice A, Dürr A, Mignard C, Sirugo G, Weissenbach J, Cohen D, Hentati F, et al. Recombinations in individuals homozygous by descent localize the Friedreich ataxia locus in a cloned 450-kb interval American Journal of Human Genetics. 54: 1050-1059. PMID 8198128 |
0.307 |
|
1994 |
Belal S, Cancel G, Stevanin G, Hentati F, Khati C, Ben Hamida C, Auburger G, Agid Y, Ben Hamida M, Brice A. Clinical and genetic analysis of a Tunisian family with autosomal dominant cerebellar ataxia type 1 linked to the SCA2 locus. Neurology. 44: 1423-6. PMID 8058142 DOI: 10.1212/Wnl.44.8.1423 |
0.465 |
|
1994 |
Hentati A, Pericak-Vance MA, Hung WY, Belal S, Laing N, Boustany RM, Hentati F, Ben Hamida M, Siddique T. Linkage of 'pure' autosomal recessive familial spastic paraplegia to chromosome 8 markers and evidence of genetic locus heterogeneity. Human Molecular Genetics. 3: 1263-7. PMID 7987300 DOI: 10.1093/Hmg/3.8.1263 |
0.366 |
|
1994 |
Hentati A, Bejaoui K, Pericak-Vance MA, Hentati F, Speer MC, Hung WY, Figlewicz DA, Haines J, Rimmler J, Ben Hamida C. Linkage of recessive familial amyotrophic lateral sclerosis to chromosome 2q33-q35. Nature Genetics. 7: 425-8. PMID 7920663 DOI: 10.1038/Ng0794-425 |
0.429 |
|
1994 |
Hentati A, Pericak-Vance MA, Lennon F, Wasserman B, Hentati F, Juneja T, Angrist MH, Hung WY, Boustany RM, Bohlega S. Linkage of a locus for autosomal dominant familial spastic paraplegia to chromosome 2p markers. Human Molecular Genetics. 3: 1867-71. PMID 7849714 DOI: 10.1093/Hmg/3.10.1867 |
0.457 |
|
1994 |
Larnaout A, Hentati F, Belal S, Ben Hamida C, Kaabachi N, Ben Hamida M. Clinical and pathological study of three Tunisian siblings with L-2-hydroxyglutaric aciduria. Acta Neuropathologica. 88: 367-70. PMID 7839830 DOI: 10.1007/Bf00310381 |
0.326 |
|
1994 |
Hillaire D, Leclerc A, Fauré S, Topaloglu H, Chiannilkulchaï N, Guicheney P, Grinas L, Legos P, Philpot J, Evangelista T, Routon MC, Mayer M, Pellissier JF, Estournet B, Barois A, ... Hentati F, et al. Localization of merosin-negative congenital muscular dystrophy to chromosome 6q2 by homozygosity mapping Human Molecular Genetics. 3: 1657-1661. PMID 7833925 DOI: 10.1093/Hmg/3.9.1657 |
0.389 |
|
1993 |
Ben Othmane K, Hentati F, Lennon F, Ben Hamida C, Blel S, Roses AD, Pericak-Vance MA, Ben Hamida M, Vance JM. Linkage of a locus (CMT4A) for autosomal recessive Charcot-Marie-Tooth disease to chromosome 8q. Human Molecular Genetics. 2: 1625-8. PMID 8268915 DOI: 10.1093/Hmg/2.10.1625 |
0.335 |
|
1993 |
Hamida CB, Doerflinger N, Belal S, Linder C, Reutenauer L, Dib C, Gyapay G, Vignal A, Le Paslier D, Cohen D, Pandolfo M, Mokini V, Novelli G, Hentati F, Hamida MB, et al. Localization of Friedreich ataxia phenotype with selective vitamin E deficiency to chromosome 8q by homozygosity mapping Nature Genetics. 5: 195-200. PMID 8252047 DOI: 10.1038/ng1093-195 |
0.684 |
|
1993 |
Ben Hamida M, Belal S, Sirugo G, Ben Hamida C, Panayides K, Ionannou P, Beckmann J, Mandel JL, Hentati F, Koenig M. Friedreich's ataxia phenotype not linked to chromosome 9 and associated with selective autosomal recessive vitamin E deficiency in two inbred Tunisian families. Neurology. 43: 2179-83. PMID 8232925 DOI: 10.1212/Wnl.43.11.2179 |
0.434 |
|
1992 |
Belal S, Panayides K, Sirugo G, Ben Hamida C, Ioannou P, Hentati F, Beckmann J, Koenig M, Mandel JL, Ben Hamida M. Study of large inbred Friedreich ataxia families reveals a recombination between D9S15 and the disease locus. American Journal of Human Genetics. 51: 1372-6. PMID 1463017 |
0.37 |
|
1991 |
Ben Hamida M, Attia-Romdhane N, Triki CH, Oueslati S, Hentati F. [Clinical and genetic analysis of 188 families with spinocerebellar degeneration. Friedreich's disease and P. Marie's hereditary ataxias]. Revue Neurologique. 147: 798-808. PMID 1780608 |
0.312 |
|
1990 |
Ben Hamida M, Hentati F, Ben Hamida C. Hereditary motor system diseases (chronic juvenile amyotrophic lateral sclerosis). Conditions combining a bilateral pyramidal syndrome with limb and bulbar amyotrophy. Brain : a Journal of Neurology. 113: 347-63. PMID 2328408 DOI: 10.1093/Brain/113.2.347 |
0.371 |
|
1990 |
Ben Jelloun-Dellagi S, Chaffey P, Hentati F, Ben Hamida C, Tome F, Colin H, Dellagi K, Kaplan JC, Fardeau M, Ben Hamida M. Presence of normal dystrophin in Tunisian severe childhood autosomal recessive muscular dystrophy. Neurology. 40: 1903. PMID 2247244 DOI: 10.1212/Wnl.40.12.1903 |
0.357 |
|
1990 |
Ben Hamida M, Hentati F, Ben Hamida C. Giant axonal neuropathy with inherited multisystem degeneration in a Tunisian kindred. Neurology. 40: 245-50. PMID 2153943 DOI: 10.1212/Wnl.40.2.245 |
0.307 |
|
1990 |
Jelloun-Dellagi SB, Chaffey P, Hentati F, Hamida CB, Tome F, Colin H, Dellagi K, Kaplan JC, Fardeau M, Hamida MB. Presence of normal dystrophin in tunisian severe childhood autosomal recessive muscular dystrophy Neurology. 40: 1903. |
0.649 |
|
1987 |
Ben Hamida M, Letaief F, Hentati F, Ben Hamida C. Hypertrophic neuropathy in spinocerebellar degeneration. Morphological study of the superficial peroneal nerve in fourteen cases. Acta Neuropathologica. 75: 51-61. PMID 3481153 DOI: 10.1007/Bf00686793 |
0.36 |
|
Show low-probability matches. |