Publications by authors named "Hamid Azzedine"

22Publications

Towards a functional pathology of hereditary neuropathies.

Acta Neuropathol 2017 04 28;133(4):493-515. Epub 2016 Nov 28.

Friedrich-Baur-Institute, Department of Neurology, Ludwig-Maximilians-University, Ziemssenstr. 1a, 80336, Munich, Germany.

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http://link.springer.com/10.1007/s00401-016-1645-y
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http://dx.doi.org/10.1007/s00401-016-1645-yDOI Listing
April 2017

Loss-of-Function Mutations in FRRS1L Lead to an Epileptic-Dyskinetic Encephalopathy.

Am J Hum Genet 2016 06 26;98(6):1249-1255. Epub 2016 May 26.

Children's Health Research Center, Sanford Research, Sioux Falls, SD 57104, USA; Department of Child Health, University of Arizona College of Medicine, Phoenix, AZ 85004, USA; Neurogenetics Research Program, Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, AZ 85016, USA; Program in Neuroscience, Arizona State University, Tempe, AZ 85287, USA; Pediatric Movement Disorders Center, Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, AZ 85016, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2016.04.008DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4908178PMC
June 2016

Underestimated associated features in CMT neuropathies: clinical indicators for the causative gene?

Brain Behav 2016 04 4;6(4):e00451. Epub 2016 Mar 4.

Department of Neurology University Hospital RWTH Aachen Aachen Germany; Institute of Neuropathology University Hospital RWTH Aachen Aachen Germany; Department of Neurology University Hospitals Leuven and University of Leuven (KU Leuven) Leuven Belgium.

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http://dx.doi.org/10.1002/brb3.451DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4782242PMC
April 2016

Reply: Is SIGMAR1 a confirmed FTD/MND gene?

Brain 2015 Nov 18;138(Pt 11):e394. Epub 2015 Jun 18.

4 Department of Neuroscience and Department of Clinical Neuroscience, Karolinska Institutet, 171 77 Stockholm, Sweden

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https://academic.oup.com/brain/article-lookup/doi/10.1093/br
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http://dx.doi.org/10.1093/brain/awv174DOI Listing
November 2015

Dysfunction in endoplasmic reticulum-mitochondria crosstalk underlies SIGMAR1 loss of function mediated motor neuron degeneration.

Brain 2015 Apr 11;138(Pt 4):875-90. Epub 2015 Feb 11.

1 Department of Medical Genetics, University of Lausanne, CH-1005 Lausanne, Switzerland 4 Department of Neuroscience and Department of Clinical Neuroscience, Karolinska Institutet, 171 77 Stockholm, Sweden.

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http://dx.doi.org/10.1093/brain/awv008DOI Listing
April 2015

C19orf12 mutation leads to a pallido-pyramidal syndrome.

Gene 2014 Mar 17;537(2):352-6. Epub 2013 Dec 17.

Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia; Department of Pediatrics, King Khalid University Hospital and College of Medicine, King Saud University, Riyadh, Saudi Arabia; Department of Anatomy and Cell Biology, College of Medicine, Alfaisal University, Riyadh, Saudi Arabia.

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http://dx.doi.org/10.1016/j.gene.2013.11.039DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4422067PMC
March 2014

Spastic paraplegia 5: Locus refinement, candidate gene analysis and clinical description.

Am J Med Genet B Neuropsychiatr Genet 2007 Oct;144B(7):854-61

INSERM U679, Pierre and Marie Curie Paris 6 University, Pitié-Salpêtrière Hospital, 47 Boulevard de l'Hôpital, 75651 Paris Cedex 13, France.

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http://dx.doi.org/10.1002/ajmg.b.30518DOI Listing
October 2007

Autosomal recessive spastic paraplegia (SPG30) with mild ataxia and sensory neuropathy maps to chromosome 2q37.3.

Brain 2006 Jun 24;129(Pt 6):1456-62. Epub 2006 Jan 24.

INSERM U679, Federative Institute for Neuroscience Research (IFR70), Salpetriere Hospital, Paris, France.

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http://dx.doi.org/10.1093/brain/awl012DOI Listing
June 2006

Mapping of a new form of pure autosomal recessive spastic paraplegia (SPG28).

Ann Neurol 2005 Apr;57(4):567-71

INSERM U679 (former U289), Federative Institute for Neuroscience Research (IFR70), Salpetriere Hospital, Paris, France.

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http://dx.doi.org/10.1002/ana.20416DOI Listing
April 2005

Spinocerebellar ataxia with sensory neuropathy (SCA25) maps to chromosome 2p.

Ann Neurol 2004 Jan;55(1):97-104

INSERM U289, Federative Institute for Neuroscience Research (IFR-70), Paris.

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http://dx.doi.org/10.1002/ana.10798DOI Listing
January 2004