E Di Maria - JoVE Visualize

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European Neurology|January 1, 1996

Molecular analysis of the IT15 gene in patients with apparently 'sporadic' Huntington's diseaseP Mandich, E Di Maria, E Bellone, et al.

Human Mutation|September 30, 1999

A novel mutation (D305V) in the early growth response 2 gene is associated with severe Charcot-Marie-Tooth type 1 diseaseE Bellone, E Di Maria, S Soriani, et al.

Journal of Neurology, Neurosurgery, and Psychiatry|October 4, 2005

An abnormal mRNA produced by a novel PMP22 splice site mutation associated with HNPPE Bellone, P Balestra, G Ribizzi, et al.

Journal of Neurology, Neurosurgery, and Psychiatry|January 27, 2004

A novel mutation of myelin protein zero associated with an axonal form of Charcot-Marie-Tooth diseaseL Santoro, F Manganelli, E Di Maria, et al.

Neurology|December 29, 2005

Dopamine transporter imaging study in parkinsonism occurring in fragile X premutation carriersR Ceravolo, A Antonini, D Volterrani, et al.

Italian Journal of Neurological Sciences|August 10, 2000

Predictive testing for Huntington's disease: ten years' experience in two Italian centresP Mandich, G Jacopini, E Di Maria, et al.

Clinical Genetics|March 18, 2008

Inclusion body myopathy, Paget's disease of the bone and frontotemporal dementia: recurrence of the VCP R155H mutation in an Italian family and implications for genetic counsellingV Viassolo, S C Previtali, E Schiatti, et al.

American Journal of Medical Genetics|May 8, 1999

Exclusion of the ninjurin gene as a candidate for hereditary sensory neuropathies type I and type IIP Mandich, E Bellone, E Di Maria, et al.

Neuroscience Letters|April 18, 1998

mRNA distribution in adult human brain of GRIN2B, a N-methyl-D-aspartate (NMDA) receptor subunitA M Schito, A Pizzuti, E Di Maria, et al.

Journal of Neurology, Neurosurgery, and Psychiatry|September 21, 2004

A novel mutation of GDAP1 associated with Charcot-Marie-Tooth disease in three Italian families: evidence for a founder effectE Di Maria, R Gulli, P Balestra, et al.

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Showing results (1-10 of 17) with videos related to

Sort By:

Pageof 2

European Neurology|January 1, 1996

Molecular analysis of the IT15 gene in patients with apparently 'sporadic' Huntington's diseaseP Mandich, E Di Maria, E Bellone, et al.

Human Mutation|September 30, 1999

A novel mutation (D305V) in the early growth response 2 gene is associated with severe Charcot-Marie-Tooth type 1 diseaseE Bellone, E Di Maria, S Soriani, et al.

Journal of Neurology, Neurosurgery, and Psychiatry|October 4, 2005

An abnormal mRNA produced by a novel PMP22 splice site mutation associated with HNPPE Bellone, P Balestra, G Ribizzi, et al.

Journal of Neurology, Neurosurgery, and Psychiatry|January 27, 2004

A novel mutation of myelin protein zero associated with an axonal form of Charcot-Marie-Tooth diseaseL Santoro, F Manganelli, E Di Maria, et al.

Neurology|December 29, 2005

Dopamine transporter imaging study in parkinsonism occurring in fragile X premutation carriersR Ceravolo, A Antonini, D Volterrani, et al.

Italian Journal of Neurological Sciences|August 10, 2000

Predictive testing for Huntington's disease: ten years' experience in two Italian centresP Mandich, G Jacopini, E Di Maria, et al.

Clinical Genetics|March 18, 2008

Inclusion body myopathy, Paget's disease of the bone and frontotemporal dementia: recurrence of the VCP R155H mutation in an Italian family and implications for genetic counsellingV Viassolo, S C Previtali, E Schiatti, et al.

American Journal of Medical Genetics|May 8, 1999

Exclusion of the ninjurin gene as a candidate for hereditary sensory neuropathies type I and type IIP Mandich, E Bellone, E Di Maria, et al.

Neuroscience Letters|April 18, 1998

mRNA distribution in adult human brain of GRIN2B, a N-methyl-D-aspartate (NMDA) receptor subunitA M Schito, A Pizzuti, E Di Maria, et al.

Journal of Neurology, Neurosurgery, and Psychiatry|September 21, 2004

A novel mutation of GDAP1 associated with Charcot-Marie-Tooth disease in three Italian families: evidence for a founder effectE Di Maria, R Gulli, P Balestra, et al.

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