Rim Amouri

Rim Amouri

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Rim Amouri

Rim Amouri

Publications by authors named "Rim Amouri"

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32Publications

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Motor phenotype of LRRK2-associated Parkinson's disease: a Tunisian longitudinal study.

Mov Disord 2015 Feb 9;30(2):253-8. Epub 2014 Dec 9.

Neurology Department, National Institute Mongi Ben Hmida of Neurology, Faculty of Medicine of Tunis, University Tunis El Manar, Tunis, Tunisia.

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http://dx.doi.org/10.1002/mds.26097DOI Listing
February 2015

Giant axonal neuropathy.

Handb Clin Neurol 2013 ;115:933-8

Department of Neurology, Institut National Mongi Ben Hamida de Neurologie, Medical Faculty of Tunis, Université El Manar, Tunis, Tunisia. Electronic address:

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http://dx.doi.org/10.1016/B978-0-444-52902-2.00052-7DOI Listing
April 2014

Clinical features and molecular genetics of two Tunisian families with abetalipoproteinemia.

J Clin Neurosci 2014 Feb 16;21(2):311-5. Epub 2013 Oct 16.

Department of Molecular Neurobiology and Neuropathology, National Institute of Neurology, La Rabta, Tunis, Tunisia.

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https://linkinghub.elsevier.com/retrieve/pii/S09675868130030
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http://dx.doi.org/10.1016/j.jocn.2013.04.016DOI Listing
February 2014

Molecular, clinical and peripheral neuropathy study of Tunisian patients with ataxia with vitamin E deficiency.

Brain 2014 Feb 25;137(Pt 2):402-10. Epub 2013 Dec 25.

1 Department of Neurology, Mongi Ben Hamida National Institute of Neurology, La Rabta, Tunis 1007, Tunisia.

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http://dx.doi.org/10.1093/brain/awt339DOI Listing
February 2014

Confirmation of the spinal motor neuron gene 2 (SMN2) copy numbers by real-time PCR.

Diagn Mol Pathol 2012 Sep;21(3):172-5

Department of Molecular Neurobiology and Neuropathology, La Rabta, National Institute of Neurology, Tunis, Tunisia.

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http://dx.doi.org/10.1097/PDM.0b013e31824696b6DOI Listing
September 2012

Cognitive dysfunction in Tunisian LRRK2 associated Parkinson's disease.

Parkinsonism Relat Disord 2012 Mar 6;18(3):243-6. Epub 2011 Nov 6.

Neurology Department, National Institute of Neurology, La Rabta-1007, Tunis, Tunisia.

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http://dx.doi.org/10.1016/j.parkreldis.2011.10.009DOI Listing
March 2012

Ataxia with vitamin E deficiency and abetalipoproteinemia.

Handb Clin Neurol 2012 ;103:295-305

National Institute of Neurology, Tunis, Tunisia.

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http://dx.doi.org/10.1016/B978-0-444-51892-7.00018-8DOI Listing
December 2011

Autosomal recessive spastic ataxia of Charlevoix-Saguenay: an overview.

Parkinsonism Relat Disord 2011 Jul 30;17(6):418-22. Epub 2011 Mar 30.

Bioinformatics Facility, University of South Dakota, Vermillion, SD 57069, USA.

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https://linkinghub.elsevier.com/retrieve/pii/S13538020110006
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http://dx.doi.org/10.1016/j.parkreldis.2011.03.005DOI Listing
July 2011

Computational analysis of a novel SACS gene mutation with BioExtract server.

J Mol Neurosci 2011 May 17;44(1):53-8. Epub 2011 Mar 17.

Computer Science Department, University of South Dakota, 414 E. Clark St., Vermillion, SD 57069, USA.

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http://link.springer.com/10.1007/s12031-011-9512-8
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http://dx.doi.org/10.1007/s12031-011-9512-8DOI Listing
May 2011

Spinal muscular atrophy due to double gene conversion event.

Int J Neurosci 2011 Feb 3;121(2):107-11. Epub 2010 Nov 3.

Department of Molecular Neurobiology and Neuropathology, National Institute of Neurology, La Rabta, Tunis, Tunisia. wieme

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http://dx.doi.org/10.3109/00207454.2010.529209DOI Listing
February 2011

A novel mitochondrial tRNA(Ile) point mutation associated with chronic progressive external ophthalmoplegia and hyperCKemia.

J Neurol Sci 2011 Jan 29;300(1-2):187-90. Epub 2010 Sep 29.

Department of Molecular Neurobiology and Neuropathology, La Rabta, National Institute of Neurology, Tunis, Tunisia.

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http://dx.doi.org/10.1016/j.jns.2010.08.065DOI Listing
January 2011

A novel heteroplasmic tRNA Ser(UCN) mtDNA point mutation associated with progressive ophthalmoplegia and dysphagia.

Diagn Mol Pathol 2010 Mar;19(1):28-32

Department of Molecular Neurobiology and Neuropathology La Rabta, National Institute of Neurology, Tunis, Tunisia.

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http://dx.doi.org/10.1097/PDM.0b013e3181b00f02DOI Listing
March 2010

A novel SACS gene mutation in a Tunisian family.

J Mol Neurosci 2009 Nov 16;39(3):333-6. Epub 2009 Jun 16.

Laboratoire de Neurobiologie Moléculaire et de Neuropathologie, Institut National de Neurologie, 1007 la Rabta, Tunis, Tunisia.

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http://dx.doi.org/10.1007/s12031-009-9212-9DOI Listing
November 2009

Allelic ROBO3 heterogeneity in Tunisian patients with horizontal gaze palsy with progressive scoliosis.

J Mol Neurosci 2009 Nov 25;39(3):337-41. Epub 2009 Jul 25.

Laboratoire de Neurobiologie Moléculaire et de Neuropathologie, Institut National de Neurologie, 1007 La Rabta, Tunis, Tunisia.

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http://link.springer.com/10.1007/s12031-009-9217-4
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http://dx.doi.org/10.1007/s12031-009-9217-4DOI Listing
November 2009

Autosomal recessive ataxia caused by three distinct gene defects in a single consanguineous family.

J Neurogenet 2008 ;22(2):139-48

Laboratoire de Neurobiologie Moleculaire et de Neuropathologie, Institut National de Neurologie, Tunisia.

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http://www.tandfonline.com/doi/full/10.1080/0167706080202523
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http://dx.doi.org/10.1080/01677060802025233DOI Listing
June 2009

Identification of novel GDAP1 mutations causing autosomal recessive Charcot-Marie-Tooth disease.

Neuromuscul Disord 2003 Nov;13(9):720-8

Molecular Genetics Department, Flanders Interuniversity Institute for Biotechnology (VIB), University of Antwerp (UIA), Universiteitsplein 1, B-2610, Antwerp, Belgium.

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November 2003

Autosomal recessive parkinsonism linked to parkin gene in a Tunisian family. Clinical, genetic and pathological study.

Parkinsonism Relat Disord 2003 Jun;9(5):247-51

Service de Neurologie, Institut National de Neurologie, La Rabta, Tunis 1007, Tunisia.

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June 2003