|
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
|