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	1.	Gene symbol: VHL. Disease: von Hippel-Lindau syndrome. [electronic resource] by Di Maria, E Ciotti, P Producer: 20040908 In: Human genetics vol. 115 Availability: No items available. Save to lists Add to cart (remove)
	2.	Mental function in males and females. [electronic resource] by Ajmar, F Di Maria, E Padovani, L Producer: 20000224 In: American journal of medical genetics vol. 88 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3.	Molecular analysis of the IT15 gene in patients with apparently 'sporadic' Huntington's disease. [electronic resource] by Mandich, P Di Maria, E Bellone, E Ajmar, F Abbruzzese, G Producer: 19970311 In: European neurology vol. 36 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4.	A novel mutation (D305V) in the early growth response 2 gene is associated with severe Charcot-Marie-Tooth type 1 disease. [electronic resource] by Bellone, E Di Maria, E Soriani, S Varese, A Doria, L L Ajmar, F Mandich, P Producer: 19991007 In: Human mutation vol. 14 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5.	Is Hardikar syndrome distinct from Kabuki (Niikawa-Kuroki) syndrome? [electronic resource] by Ejarque, I Uliana, V Forzano, F Marciano, C Merla, G Zelante, L Di Maria, E Faravelli, F Producer: 20120615 In: Clinical genetics vol. 80 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	6.	A novel mutation of myelin protein zero associated with an axonal form of Charcot-Marie-Tooth disease. [electronic resource] by Santoro, L Manganelli, F Di Maria, E Bordo, D Cassandrini, D Ajmar, F Mandich, P Bellone, E Producer: 20040311 In: Journal of neurology, neurosurgery, and psychiatry vol. 75 Availability: No items available. Save to lists Add to cart (remove)
	7.	An abnormal mRNA produced by a novel PMP22 splice site mutation associated with HNPP. [electronic resource] by Bellone, E Balestra, P Ribizzi, G Schenone, A Zocchi, G Di Maria, E Ajmar, F Mandich, P Producer: 20060518 In: Journal of neurology, neurosurgery, and psychiatry vol. 77 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	8.	Dopamine transporter imaging study in parkinsonism occurring in fragile X premutation carriers. [electronic resource] by Ceravolo, R Antonini, A Volterrani, D Rossi, C Goldwurm, S Di Maria, E Kiferle, L Bonuccelli, U Murri, L Producer: 20060414 In: Neurology vol. 65 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	9.	Predictive testing for Huntington's disease: ten years' experience in two Italian centres. [electronic resource] by Mandich, P Jacopini, G Di Maria, E Sabbadini, G Abbruzzese, G Chimirri, F Bellone, E Novelletto, A Ajmar, F Frontali, M Producer: 20000829 In: Italian journal of neurological sciences vol. 19 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	10.	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 counselling. [electronic resource] by Viassolo, V Previtali, S C Schiatti, E Magnani, G Minetti, C Zara, F Grasso, M Dagna-Bricarelli, F Di Maria, E Producer: 20080926 In: Clinical genetics vol. 74 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	11.	Exclusion of the ninjurin gene as a candidate for hereditary sensory neuropathies type I and type II. [electronic resource] by Mandich, P Bellone, E Di Maria, E Pigullo, S Pizzuti, A Schenone, A Soriani, S Varese, A Windebank, A J Ajmar, F Producer: 19990707 In: American journal of medical genetics vol. 83 Availability: No items available. Save to lists Add to cart (remove)
	12.	mRNA distribution in adult human brain of GRIN2B, a N-methyl-D-aspartate (NMDA) receptor subunit. [electronic resource] by Schito, A M Pizzuti, A Di Maria, E Schenone, A Ratti, A Defferrari, R Bellone, E Mancardi, G L Ajmar, F Mandich, P Producer: 19980415 In: Neuroscience letters vol. 239 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	13.	A novel mutation of GDAP1 associated with Charcot-Marie-Tooth disease in three Italian families: evidence for a founder effect. [electronic resource] by Di Maria, E Gulli, R Balestra, P Cassandrini, D Pigullo, S Doria-Lamba, L Bado, M Schenone, A Ajmar, F Mandich, P Bellone, E Producer: 20041019 In: Journal of neurology, neurosurgery, and psychiatry vol. 75 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	14.	Family and molecular data for a fine analysis of age at onset in Huntington disease. [electronic resource] by Squitieri, F Sabbadini, G Mandich, P Gellera, C Di Maria, E Bellone, E Castellotti, B Nargi, E de Grazia, U Frontali, M Novelletto, A Producer: 20010222 In: American journal of medical genetics vol. 95 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	15.	Congenital hypomyelination due to myelin protein zero Q215X mutation. [electronic resource] by Mandich, P Mancardi, G L Varese, A Soriani, S Di Maria, E Bellone, E Bado, M Gross, L Windebank, A J Ajmar, F Schenone, A Producer: 19990525 In: Annals of neurology vol. 45 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	16.	The D355V mutation decreases EGR2 binding to an element within the Cx32 promoter. [electronic resource] by Musso, M Balestra, P Bellone, E Cassandrini, D Di Maria, E Doria, L L Grandis, M Mancardi, G L Schenone, A Levi, G Ajmar, F Mandich, P Producer: 20010927 In: Neurobiology of disease vol. 8 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	17.	No evidence of association between CAG expansions and essential tremor in a large cohort of Italian patients. [electronic resource] by Pigullo, S Di Maria, E Marchese, R Assini, A Bellone, E Scaglione, C Vitale, C Bonuccelli, U Barone, P Ajmar, F Martinelli, P Abbruzzese, G Mandich, P Producer: 20010927 In: Journal of neural transmission (Vienna, Austria : 1996) vol. 108 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	18.	Severe fluoropyrimidine-related toxicity: clinical implications of DPYD analysis and UH2/U ratio evaluation. [electronic resource] by Giorgio, E Caroti, C Mattioli, F Uliana, V Parodi, M I D'Amico, Mauro Fucile, C Marini, V Forzano, F Cassola, G Martelli, A Faravelli, F Di Maria, E Producer: 20111227 In: Cancer chemotherapy and pharmacology vol. 68 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	19.	Clinical and genetic study of essential tremor in the Italian population. [electronic resource] by 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 Producer: 20011213 In: Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology vol. 22 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	20.	Corticobasal degeneration shares a common genetic background with progressive supranuclear palsy. [electronic resource] by Di Maria, E Tabaton, M Vigo, T Abbruzzese, G Bellone, E Donati, C Frasson, E Marchese, R Montagna, P Munoz, D G Pramstaller, P P Zanusso, G Ajmar, F Mandich, P Producer: 20000508 In: Annals of neurology vol. 47 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)

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