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Results 1 - 10 of 67  for Great Falls College MSU

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1
A novel mutation of GDAP1 associated with Charcot-Marie-Tooth disease in three Italian families: evidence for a founder effect
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A novel mutation of GDAP1 associated with Charcot-Marie-Tooth disease in three Italian families: evidence for a founder effect

Di Maria, E ; Gulli, R ; Balestra, P ; Cassandrini, D ; Pigullo, S ; Doria-Lamba, L ; Bado, M ; Schenone, A ; Ajmar, F ; Mandich, P ; Bellone, E

Journal of Neurology, Neurosurgery & Psychiatry, 2004-10, Vol.75 (10), p.1495-1498 [Peer Reviewed Journal]

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2
An abnormal mRNA produced by a novel PMP22 splice site mutation associated with HNPP
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An abnormal mRNA produced by a novel PMP22 splice site mutation associated with HNPP

Bellone, E ; Balestra, P ; Ribizzi, G ; Schenone, A ; Zocchi, G ; Di Maria, E ; Ajmar, F ; Mandich, P

Journal of Neurology, Neurosurgery & Psychiatry, 2006-04, Vol.77 (4), p.538-540 [Peer Reviewed Journal]

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3
A novel mutation of myelin protein zero associated with an axonal form of Charcot–Marie–Tooth disease
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A novel mutation of myelin protein zero associated with an axonal form of Charcot–Marie–Tooth disease

Santoro, L ; Manganelli, F ; Di Maria, E ; Bordo, D ; Cassandrini, D ; Ajmar, F ; Mandich, P ; Bellone, E

Journal of Neurology, Neurosurgery & Psychiatry, 2004-02, Vol.75 (2), p.262-265 [Peer Reviewed Journal]

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4
Triplet Repeat Primed PCR (TP PCR) in Molecular Diagnostic Testing for Friedreich Ataxia
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Triplet Repeat Primed PCR (TP PCR) in Molecular Diagnostic Testing for Friedreich Ataxia

Ciotti, Paola ; Di Maria, Emilio ; Bellone, Emilia ; Ajmar, Franco ; Mandich, Paola

The Journal of Molecular Diagnostics, 2004, Vol.6 (4), p.285-289 [Peer Reviewed Journal]

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5
Corticobasal degeneration shares a common genetic background with progressive supranuclear palsy
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Corticobasal degeneration shares a common genetic background with progressive supranuclear palsy

Di Maria, Emilio ; Tabaton, Massimo ; Vigo, Tiziana ; Abbruzzese, Giovanni ; Bellone, Emilia ; Donati, Catia ; Frasson, Emma ; Marchese, Roberta ; Montagna, Pasquale ; Munoz, David G ; Pramstaller, Peter P ; Zanusso, Gianluigi ; Ajmar, Franco ; Mandich, Paola

Annals of Neurology, 2000-03, Vol.47 (3), p.374-377 [Peer Reviewed Journal]

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6
Clinical and genetic study of essential tremor in the Italian population
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Clinical and genetic study of essential tremor in the Italian population

Abbruzzese, G ; Pigullo, S ; Di Maria, E ; Martinelli, P ; Barone, P ; Marchese, R ; Scaglione, C ; Assini, A ; Lucetti, C ; Berardelli, A ; Calzetti, S ; Bellone, E ; Ajmar, F ; Mandich, P

Neurological Sciences, 2001-02, Vol.22 (1), p.39-40 [Peer Reviewed Journal]

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7
De novo duplication in Charcot-Marie-Tooth type 1A
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De novo duplication in Charcot-Marie-Tooth type 1A

Mandich, P ; Bellone, E ; Schenone, A ; Mancardi, G ; Abbruzzese, M ; Ajmar, F

American journal of human genetics, 1996-09, Vol.59 (3), p.739-740 [Peer Reviewed Journal]

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8
Variations in the NMDA receptor subunit 2B gene (GRIN2B) and schizophrenia: A case‐control study
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Variations in the NMDA receptor subunit 2B gene (GRIN2B) and schizophrenia: A case‐control study

Di Maria, Emilio ; Gulli, Rossella ; Begni, Silvia ; De Luca, Alessandro ; Bignotti, Stefano ; Pasini, Augusto ; Bellone, Emilia ; Pizzuti, Antonio ; Dallapiccola, Bruno ; Novelli, Giuseppe ; Ajmar, Franco ; Gennarelli, Massimo ; Mandich, Paola

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, 2004-07-01, Vol.128B (1), p.27-29 [Peer Reviewed Journal]

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9
Does parkin play a role in the peripheral nervous system? A family report
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Does parkin play a role in the peripheral nervous system? A family report

Abbruzzese, Giovanni ; Pigullo, Simona ; Schenone, Angelo ; Bellone, Emilia ; Marchese, Roberta ; Di Maria, Emilio ; Benedetti, Luana ; Ciotti, Paola ; Nobbio, Lucilla ; Bonifati, Vincenzo ; Ajmar, Franco ; Mandich, Paola

Movement Disorders, 2004-08, Vol.19 (8), p.978-981 [Peer Reviewed Journal]

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10
A Novel Mutation (D305V) in the early growth response 2 gene is associated with severe Charcot‐Marie‐Tooth type 1 disease
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A Novel Mutation (D305V) in the early growth response 2 gene is associated with severe Charcot‐Marie‐Tooth type 1 disease

Bellone, Emilia ; Di Maria, Emilio ; Soriani, Silvia ; Varese, Alessandra ; Doria, Laura Lamba ; Ajmar, Franco ; Mandich, Paola

Human Mutation, 1999-10, Vol.14 (4), p.353-354 [Peer Reviewed Journal]

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Results 1 - 10 of 67  for Great Falls College MSU

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