PubRank

Jacek Zaremba

Author PubWeight™ 17.87‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 Mutations in the Na+/K+ -ATPase alpha3 gene ATP1A3 are associated with rapid-onset dystonia parkinsonism. Neuron 2004 3.59
2 The phenotypic spectrum of rapid-onset dystonia-parkinsonism (RDP) and mutations in the ATP1A3 gene. Brain 2007 1.73
3 The S18Y polymorphism in the UCHL1 gene is a genetic modifier in Huntington's disease. Neurogenetics 2005 1.06
4 Genetic analysis of candidate genes modifying the age-at-onset in Huntington's disease. Hum Genet 2006 1.00
5 Genetic counseling in Robertsonian translocations der(13;14): frequencies of reproductive outcomes and infertility in 101 pedigrees. Am J Med Genet A 2008 0.98
6 SCA8 repeat expansion coexists with SCA1--not only with SCA6. Am J Hum Genet 2003 0.93
7 Unaffected patients with a homozygous absence of the SMN1 gene. Eur J Hum Genet 2008 0.88
8 Screening for the hereditary spastic paraplaegias SPG4 and SPG3A with the multiplex ligation-dependent probe amplification technique in a large population of affected individuals. Neurol Sci 2011 0.85
9 [A study on the occurrence of the deletion 22q11.2 in patients affected with a psychiatric disease]. Psychiatr Pol 2007 0.83
10 Malformations of the brain in two fetuses with a compound heterozygosity for two PAX6 mutations. Folia Neuropathol 2009 0.82
11 The natural history of SCO2 deficiency in 36 Polish children confirmed the genotype-phenotype correlation. Mitochondrion 2013 0.81
12 A phenotypic-genetic study of a group of Polish patients with spinal and bulbar muscular atrophy. Amyotroph Lateral Scler 2006 0.81
13 Screening for premutation in the FMR1 gene in male patients suspected of spinocerebellar ataxia. Neurol Neurochir Pol 2009 0.79
14 A molecular and cytogenetic investigation of FMR1 gene premutations in Polish patients with primary ovarian insufficiency. Eur J Obstet Gynecol Reprod Biol 2011 0.79
15 The occurrence of spinocerebellar ataxias caused by dynamic mutations in Polish patients. Neurol Neurochir Pol 2010 0.78
16 Polymorphism of trinucleotide repeats in non-translated regions of SCA8 and SCA12 genes: allele distribution in a Polish control group. J Appl Genet 2004 0.77
17 Searching for mutation in the JPH3, ATN1 and TBP genes in Polish patients suspected of Huntington's disease and without mutation in the IT15 gene. Neurol Neurochir Pol 2008 0.77
18 [Clinical and genetic study of juvenile form of Huntington's disease]. Neurol Neurochir Pol 2002 0.75
19 [The use of non-typical materials as a source of DNA in post-mortem diagnosis of spinal muscular atrophy]. Neurol Neurochir Pol 2004 0.75
20 [Prenatal diagnosis of spinal muscular atrophy (SMA) -- indications, restrictions, interpretation of results]. Med Wieku Rozwoj 2005 0.75
21 [Genetic amniocentesis in the II Department of Obstetrics and Gynecology of the Medical University of Warsaw]. Ginekol Pol 2004 0.75
22 Two mutations in one dystrophin gene. Neurol Neurochir Pol 2013 0.75
23 [Detection of rare mutations in the dystrophin gene]. Med Wieku Rozwoj 2009 0.75
24 [Carrier detection in Duchenne/Becker muscular dystrophy in the families in which the DNA of the affected person is not available]. Med Wieku Rozwoj 2006 0.75
25 Two neoplasms rich in small lymphocytes, B1B2 thymoma and small lymphocytic lymphoma, intermingled in one tumor mass. A case report. Pol J Pathol 2017 0.75
26 Frontotemporal lobar degeneration with MAPT mutation in an Italian-Polish family. A case report. Folia Neuropathol 2014 0.75
27 Application of a rapid non-invasive technique in the molecular diagnosis of spinal muscular atrophy (SMA). Neurol Neurochir Pol 2005 0.75
28 [Genetic amniocentesis--characteristic of patients, indications, outcomes, complications]. Med Wieku Rozwoj 2004 0.75
29 Hereditary form of prion disease in Poland. Neurol Neurochir Pol 2013 0.75
30 CAG repeat polymorphism in the androgen receptor (AR) gene of SBMA patients and a control group. J Appl Genet 2005 0.75
31 [Spinocerebellar ataxias type 1 and 2: comparison of clinical, electrophysiological and magnetic resonance evaluation]. Neurol Neurochir Pol 2005 0.75
32 [Familial occurrence of FXTAS caused by premutation in the FMR1 gene]. Neurol Neurochir Pol 2011 0.75