Fiorella Speziani

Fiorella Speziani

UNVERIFIED PROFILE

Are you Fiorella Speziani?   Register this Author

Register author
Fiorella Speziani

Fiorella Speziani

Publications by authors named "Fiorella Speziani"

Are you Fiorella Speziani?   Register this Author

13Publications

-Reads

A novel mutation in VCP causes Charcot-Marie-Tooth Type 2 disease.

Brain 2014 Nov 14;137(Pt 11):2897-902. Epub 2014 Aug 14.

2 Department of Neurology, University of Iowa, 200 Hawkins Drive, Iowa City, IA 52242, USA

View Article
November 2014

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.

View Article
August 2014

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:

View Article
February 2014

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.

View Article
November 2013

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.

View Article
November 2013

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.

View Article
June 2013

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.

View Article
June 2013

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.

View Article
July 2011

Exome sequencing allows for rapid gene identification in a Charcot-Marie-Tooth family.

Ann Neurol 2011 Mar 20;69(3):464-70. Epub 2011 Jan 20.

John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, FL 33136, USA.

View Article
March 2011