Mark Matsushita

Author PubWeight™ 19.27^‹?›

Top papers

Rank	Title	Journal	Year	PubWeight™‹?›
1	Presence of alanine-to-valine substitutions in myofibrillogenesis regulator 1 in paroxysmal nonkinesigenic dyskinesia: confirmation in 2 kindreds.	Arch Neurol	2005	1.78
2	X-linked thrombocytopenia with thalassemia from a mutation in the amino finger of GATA-1 affecting DNA binding rather than FOG-1 interaction.	Blood	2002	1.41
3	Missense mutations in the regulatory domain of PKC gamma: a new mechanism for dominant nonepisodic cerebellar ataxia.	Am J Hum Genet	2003	1.36
4	IFRD1 is a candidate gene for SMNA on chromosome 7q22-q23.	Am J Hum Genet	2009	1.21
5	Replication of CNTNAP2 association with nonword repetition and support for FOXP2 association with timed reading and motor activities in a dyslexia family sample.	J Neurodev Disord	2010	1.13
6	Linkage analyses of four regions previously implicated in dyslexia: confirmation of a locus on chromosome 15q.	Am J Med Genet B Neuropsychiatr Genet	2004	1.12
7	Familial dyskinesia and facial myokymia (FDFM): Follow-up of a large family and linkage to chromosome 3p21-3q21.	Am J Med Genet B Neuropsychiatr Genet	2009	0.97
8	Genomewide scan for real-word reading subphenotypes of dyslexia: novel chromosome 13 locus and genetic complexity.	Am J Med Genet B Neuropsychiatr Genet	2006	0.96
9	A novel mutation in FHL1 in a family with X-linked scapuloperoneal myopathy: phenotypic spectrum and structural study of FHL1 mutations.	J Neurol Sci	2010	0.94
10	Sensorineural deafness, distinctive facial features, and abnormal cranial bones: a new variant of Waardenburg syndrome?	Am J Med Genet A	2008	0.93
11	De novo microdeletion of BCL11A is associated with severe speech sound disorder.	Am J Med Genet A	2014	0.92
12	Motor sequencing deficit as an endophenotype of speech sound disorder: a genome-wide linkage analysis in a multigenerational family.	Psychiatr Genet	2012	0.88
13	Genome scan for spelling deficits: effects of verbal IQ on models of transmission and trait gene localization.	Behav Genet	2010	0.88
14	Two novel mutations in ABHD12: expansion of the mutation spectrum in PHARC and assessment of their functional effects.	Hum Mutat	2013	0.86
15	Autosomal dominant sensory/motor neuropathy with Ataxia (SMNA): Linkage to chromosome 7q22-q32.	Am J Med Genet	2002	0.82
16	A new dominant spinocerebellar ataxia linked to chromosome 19q13.4-qter.	Arch Neurol	2002	0.82
17	Global processing speed in children with low reading ability and in children and adults with typical reading ability: exploratory factor analytic models.	J Speech Lang Hear Res	2010	0.82
18	Evidence for involvement of GNB1L in autism.	Am J Med Genet B Neuropsychiatr Genet	2011	0.80
19	A novel X-linked four-repeat tauopathy with Parkinsonism and spasticity.	Mov Disord	2010	0.79