statistiche ricercatore

Nome	#
DRPLA.Synonym: Dentatorubral-Pallidoluysian Atrophy	2
Fractal analysis reveals reduced complexity of retinal vessels in CADASIL	1
A G301R Na+/K+ -ATPase mutation causes familial hemiplegic migraine type 2 with cerebellar signs.	1
Autosomal dominant cerebral small vessel disease associated with HTRA1 gene mutation in an Italian family	1
Mutation analysis and regulation region characterization of CACNA1A gene coding for P/Q voltage gated calcium channel alpha 1a subunit	1
Clinical and genetic study of a family with Familial Hemiplegic Migraine.	1
Use of DNA markers in diagnosis of Adult Dominant Polycystic Kidney Disease	1
Newly characterized 5' and 3' regions of CACNA1A gene harbour mutations associated with Familial Hemiplegic Migraine or episodic Ataxia type 2	1
Clinical and molecular characterization of a large cohort of patients with novel and recurrent CACNA1A gene mutations.	1
Beyond consent: ordinary abuses in HD presymptomatic genetic testing in Italy.	1
ON THE ESTIMATION OF THE AGE AT ONSET DISTRIBUTION IN HUNTINGTONS-CHOREA USING THE EM ALGORITHM	1
Ordering of 44 genetic markers in the 6p22 cytogenetic band.	1
Mutation analysis and regulating region characterization of CACNA1A gene coding for P/Q voltage-gated calcium channel 1A subunit.	1
A genome scan for modifiers of age at onset in Huntington disease: The HD MAPS study.	1
Truncating and non truncating mutation of P/Q Ca2+ channel subunit Cav 2.1 causing episodic ataxia 2 in a large sample of patients	1
Totale	16

	Totale	Lug	Ago	Sett	Ott	Nov	Dic	Gen	Feb	Mar	Apr	Mag	Giu
2023/2024	7	0	0	0	0	0	0	0	0	1	0	5	1
2024/2025	9	6	3	0	0	0	0	0	0	0	0	0	0
Totale													16

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