Publications by authors named "Fiorella Speziani"

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Pure and syndromic optic atrophy explained by deep intronic OPA1 mutations and an intralocus modifier.
Brain 2014 Aug 25;137(Pt 8):2164-77. Epub 2014 Jun 25.
3 Department of Neurodegenerative Diseases, Hertie-Institute for Clinical Brain Research, University of Tübingen, Hoppe-Seyler-Straße 3, 72076 Tübingen, Germany4 Centre for Neurodegenerative Diseases (DZNE), Helmholtz Association of German Research Centers, Otfried-Müller-Straße 27, 72076 Tübingen, Germany.

Loss of association of REEP2 with membranes leads to hereditary spastic paraplegia.
Am J Hum Genet 2014 Feb 2;94(2):268-77. Epub 2014 Jan 2.
Université Pierre and Marie Curie - Paris VI, Unité Mixte de Recherche S975, Centre de Recherche de l'Institut du Cerveau et de la Moelle épinière, Groupe Hospitalier Pitié-Salpêtrière, 75013 Paris, France; Institut National de la Santé et de la Recherche Médicale, Unité 975, 75013 Paris, France; Centre National de la Recherche Scientifique, Unité Mixte de Recherche 7225, 75013 Paris, France. Electronic address:

Mutations in phospholipase DDHD2 cause autosomal recessive hereditary spastic paraplegia (SPG54).
Eur J Hum Genet 2013 Nov 13;21(11):1214-8. Epub 2013 Mar 13.
Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL, USA.

Exome sequencing identifies a significant variant in methionyl-tRNA synthetase (MARS) in a family with late-onset CMT2.
J Neurol Neurosurg Psychiatry 2013 Nov 1;84(11):1247-9. Epub 2013 Jun 1.
Dr John T McDonald Foundation Department of Human Genetics, John P Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, , Miami, Florida, USA.



GEnomes Management Application (GEM.app): a new software tool for large-scale collaborative genome analysis.
Hum Mutat 2013 Jun 3;34(6):842-6. Epub 2013 Apr 3.
Dr. John T. Macdonald Foundation Department of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, Florida, USA.


Mutations in BICD2 cause dominant congenital spinal muscular atrophy and hereditary spastic paraplegia.
Am J Hum Genet 2013 Jun 9;92(6):965-73. Epub 2013 May 9.
Institute for Neuroscience and Muscle Research, Children's Hospital at Westmead, Westmead, Sydney, NSW 2145, Australia; Discipline of Paediatrics and Child Health, Faculty of Medicine, The University of Sydney, Sydney, NSW 2006, Australia.

Mutation screening of mitofusin 2 in Charcot-Marie-Tooth disease type 2.
J Neurol 2011 Jul 22;258(7):1234-9. Epub 2011 Jan 22.
Department of Human Genetics, John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Biomedical Research Building, Room 523, LC: M-860, 1501 NW 10th Avenue, Miami, FL 33136, USA.

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