Marina Frontali

Author PubWeight™ 18.88^‹?›

Top papers

Rank	Title	Journal	Year	PubWeight™‹?›
1	Mutations in the mitochondrial protease gene AFG3L2 cause dominant hereditary ataxia SCA28.	Nat Genet	2010	2.66
2	A genome scan for modifiers of age at onset in Huntington disease: The HD MAPS study.	Am J Hum Genet	2003	1.85
3	Genome-wide significance for a modifier of age at neurological onset in Huntington's disease at 6q23-24: the HD MAPS study.	BMC Med Genet	2006	1.30
4	Evidence for a modifier of onset age in Huntington disease linked to the HD gene in 4p16.	Neurogenetics	2004	1.19
5	A G301R Na+/K+ -ATPase mutation causes familial hemiplegic migraine type 2 with cerebellar signs.	Neurogenetics	2004	1.11
6	Common SNP-based haplotype analysis of the 4p16.3 Huntington disease gene region.	Am J Hum Genet	2012	1.05
7	Identification of novel and recurrent CACNA1A gene mutations in fifteen patients with episodic ataxia type 2.	J Neurol Sci	2010	0.96
8	Effects of an intensive rehabilitation programme on patients with Huntington's disease: a pilot study.	Clin Rehabil	2007	0.96
9	A novel de novo mutation of the TITF1/NKX2-1 gene causing ataxia, benign hereditary chorea, hypothyroidism and a pituitary mass in a UK family and review of the literature.	Cerebellum	2014	0.87
10	EMQN Best Practice Guidelines for molecular genetic testing of SCAs.	Eur J Hum Genet	2010	0.84
11	Fractal analysis reveals reduced complexity of retinal vessels in CADASIL.	PLoS One	2011	0.84
12	Population stratification may bias analysis of PGC-1α as a modifier of age at Huntington disease motor onset.	Hum Genet	2012	0.83
13	Functional characterization of a novel mutation in TITF-1 in a patient with benign hereditary chorea.	J Neurol Sci	2007	0.81
14	TAA repeat variation in the GRIK2 gene does not influence age at onset in Huntington's disease.	Biochem Biophys Res Commun	2012	0.81
15	Newly characterised 5' and 3' regions of CACNA1A gene harbour mutations associated with Familial Hemiplegic Migraine and Episodic Ataxia.	J Neurol Sci	2008	0.80
16	Impaired vasoreactivity in mildly disabled CADASIL patients.	J Neurol Neurosurg Psychiatry	2011	0.78
17	Candidate glutamatergic and dopaminergic pathway gene variants do not influence Huntington's disease motor onset.	Neurogenetics	2013	0.77
18	Is the oxidant/antioxidant status altered in CADASIL patients?	PLoS One	2013	0.76
19	Dramatically different levels of Cacna1a gene expression between pre-weaning wild type and leaner mice.	J Neurol Sci	2011	0.75