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A Possible Modifying Effect of the G2019S Mutation in the LRRK2 Gene on GBA Parkinson's Disease.
- Published in:
- 2020
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- Publication type:
- journal article
Survival rates among Parkinson's disease patients who carry mutations in the LRRK2 and GBA genes.
- Published in:
- 2018
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- Publication type:
- journal article
Variable PARK2 Mutations Cause Early-Onset Parkinson's Disease in a Small Restricted Population.
- Published in:
- Journal of Molecular Neuroscience, 2017, v. 63, n. 2, p. 216, doi. 10.1007/s12031-017-0972-3
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- Publication type:
- Article
SEPT14 Is Associated with a Reduced Risk for Parkinson's Disease and Expressed in Human Brain.
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- Journal of Molecular Neuroscience, 2016, v. 59, n. 3, p. 343, doi. 10.1007/s12031-016-0738-3
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- Publication type:
- Article
The Age at Motor Symptoms Onset in LRRK2-Associated Parkinson's Disease is Affected by a Variation in the MAPT Locus: A Possible Interaction.
- Published in:
- Journal of Molecular Neuroscience, 2012, v. 46, n. 3, p. 541, doi. 10.1007/s12031-011-9641-0
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- Publication type:
- Article
Two Ethnic Clusters with Huntington Disease in Israel: The Case of Mountain Jews and Karaites.
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- Neurodegenerative Diseases, 2017, v. 17, n. 6, p. 281, doi. 10.1159/000479375
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- Publication type:
- Article
Microarray analysis has no additional value in fetal aberrant right subclavian artery: description of 268 pregnancies and systematic literature review.
- Published in:
- 2019
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- Publication type:
- journal article
ATM-dependent activation of the gene encoding MAP kinase phosphatase 5 by radiomimetic DNA damage.
- Published in:
- Oncogene, 2002, v. 21, n. 5, p. 849, doi. 10.1038/sj.onc.1205127
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- Publication type:
- Article
The effect of polyhydramnios degree on chromosomal microarray results: a retrospective cohort analysis of 742 singleton pregnancies.
- Published in:
- 2021
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- Publication type:
- journal article
High Frequency of GBA Gene Mutations in Dementia With Lewy Bodies Among Ashkenazi Jews.
- Published in:
- JAMA Neurology, 2016, v. 73, n. 12, p. 1448, doi. 10.1001/jamaneurol.2016.1593
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- Publication type:
- Article
Metabolic syndrome does not influence the phenotype of LRRK2 and GBA related Parkinson's disease.
- Published in:
- Scientific Reports, 2020, v. 10, n. 1, p. 1, doi. 10.1038/s41598-020-66319-9
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- Publication type:
- Article
Recombinant ATM protein complements the cellular A-T phenotype.
- Published in:
- Oncogene, 1997, v. 15, n. 2, p. 159, doi. 10.1038/sj.onc.1201319
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- Publication type:
- Article
Gait alterations in healthy carriers of the LRRK2 G2019S mutation.
- Published in:
- Annals of Neurology, 2011, v. 69, n. 1, p. 193, doi. 10.1002/ana.22165
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- Publication type:
- Article
Genetic diagnosis and detection rates using C9orf72 repeat expansion and a multi-gene panel in amyotrophic lateral sclerosis.
- Published in:
- Journal of Neurology, 2024, v. 271, n. 7, p. 4258, doi. 10.1007/s00415-024-12368-3
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- Publication type:
- Article
Biochemical markers for severity and risk in GBA and LRRK2 Parkinson's disease.
- Published in:
- Journal of Neurology, 2021, v. 268, n. 4, p. 1517, doi. 10.1007/s00415-020-10325-4
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- Publication type:
- Article
The homozygous P582S mutation in the oxygen?dependent degradation domain of HIF?1? is associated with increased risk for prostate cancer.
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- Prostate, 2007, v. 67, n. 1, p. 8, doi. 10.1002/pros.20433
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- Publication type:
- Article
Mutation screening and association study of the candidate prostate cancer susceptibility genes MSR1, PTEN, and KLF6.
- Published in:
- Prostate, 2006, v. 66, n. 10, p. 1052, doi. 10.1002/pros.20425
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- Publication type:
- Article
Genome-wide mapping of IBD segments in an Ashkenazi PD cohort identifies associated haplotypes.
- Published in:
- Human Molecular Genetics, 2014, v. 23, n. 17, p. 4693, doi. 10.1093/hmg/ddu158
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- Publication type:
- Article
Glucocerebrosidase Activity Is Not Associated with Parkinson's Disease Risk or Severity.
- Published in:
- Movement Disorders, 2022, v. 37, n. 3, p. 651, doi. 10.1002/mds.28929
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- Publication type:
- Article
Glucocerebrosidase Activity is not Associated with Parkinson's Disease Risk or Severity.
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- Movement Disorders, 2022, v. 37, n. 1, p. 190, doi. 10.1002/mds.28792
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- Publication type:
- Article
R869C mutation in molecular motor KIF17 gene is involved in dementia with Lewy bodies.
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- Alzheimer's & Dementia: Diagnosis, Assessment & Disease Monitoring, 2021, v. 13, n. 1, p. 1, doi. 10.1002/dad2.12143
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- Publication type:
- Article
1017. Genetic Predisposition of the Sensitivity of Prostate Cancer to Radiatherapy.
- Published in:
- Molecular Therapy, 2006, v. 13, p. S391, doi. 10.1016/j.ymthe.2006.08.1111
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- Publication type:
- Article
Cover Image, Volume 37, Issue 8.
- Published in:
- Prenatal Diagnosis, 2017, v. 37, n. 8, p. i, doi. 10.1002/pd.4899
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- Publication type:
- Article
Association of aberrant right subclavian artery with abnormal karyotype and microarray results.
- Published in:
- Prenatal Diagnosis, 2017, v. 37, n. 8, p. 808, doi. 10.1002/pd.5092
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- Publication type:
- Article
Association of aberrant right subclavian artery with abnormal karyotype and microarray results.
- Published in:
- 2017
- By:
- Publication type:
- journal article
Microscopic chromosome Xp distal deletions - a challenging issue in prenatal genetic counseling.
- Published in:
- Prenatal Diagnosis, 2014, v. 34, n. 6, p. 592, doi. 10.1002/pd.4354
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- Publication type:
- Article
Rapid Prenatal Diagnosis of Aneuploidy for Chromosomes 21, 18, 13, and X by Quantitative Fluorescence Polymerase Chain Reaction.
- Published in:
- Fetal Diagnosis & Therapy, 2006, v. 21, n. 4, p. 326, doi. 10.1159/000092459
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- Publication type:
- Article
Parkinson's disease-related LRRK2 G2019S mutation results from independent mutational events in humans.
- Published in:
- Human Molecular Genetics, 2010, v. 19, n. 10, p. 1998
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- Publication type:
- Article
MAPT Locus in Parkinson's Disease Patients of Ashkenazi Origin: A Stratified Analysis.
- Published in:
- Genes, 2024, v. 15, n. 1, p. 46, doi. 10.3390/genes15010046
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- Publication type:
- Article
C9orf72 -G 4 C 2 Intermediate Repeats and Parkinson's Disease; A Data-Driven Hypothesis.
- Published in:
- Genes, 2021, v. 12, n. 8, p. 1210, doi. 10.3390/genes12081210
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- Publication type:
- Article
Homozygosity for the MTX1 c.184T>A (p.S63T) alteration modifies the age of onset in GBA-associated Parkinson's disease.
- Published in:
- Neurogenetics, 2011, v. 12, n. 4, p. 325, doi. 10.1007/s10048-011-0293-6
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- Publication type:
- Article
Ashkenazi Parkinson’s disease patients with the LRRK2 G2019S mutation share a common founder dating from the second to fifth centuries.
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- Neurogenetics, 2009, v. 10, n. 4, p. 355, doi. 10.1007/s10048-009-0186-0
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- Publication type:
- Article
Application of the Movement Disorder Society prodromal criteria in healthy G2019S-LRRK2 carriers.
- Published in:
- 2018
- By:
- Publication type:
- journal article
Nonmotor symptoms in healthy Ashkenazi Jewish carriers of the G2019S mutation in the LRRK2 gene.
- Published in:
- Movement Disorders, 2015, v. 30, n. 7, p. 981, doi. 10.1002/mds.26213
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- Publication type:
- Article
Parkinson disease phenotype in Ashkenazi jews with and without LRRK2 G2019S mutations.
- Published in:
- Movement Disorders, 2013, v. 28, n. 14, p. 1966, doi. 10.1002/mds.25647
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- Publication type:
- Article
Fall risk and gait in Parkinson's disease: The role of the LRRK2 G2019S mutation.
- Published in:
- Movement Disorders, 2013, v. 28, n. 12, p. 1683, doi. 10.1002/mds.25587
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- Publication type:
- Article
Ataxia-telangiectasia in the Japanese population: Identification of R1917X, W2491R, R2909G, IVS33+2T→A, and 7883del5, the latter two being relatively common mutations.
- Published in:
- Human Mutation, 1998, v. 12, n. 5, p. 338, doi. 10.1002/(SICI)1098-1004(1998)12:5<338::AID-HUMU7>3.0.CO;2-9
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- Publication type:
- Article
Novel exonic mutation (5319 G to A) resulting in two aberrantly spliced transcripts of the ATM gene in a Japanese patient with ataxia-telangiectasia.
- Published in:
- Human Mutation, 1998, v. 11, p. S223, doi. 10.1002/humu.1380110172
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- Publication type:
- Article
Identification of ATM mutations using extended RT-PCR and restriction endonuclease fingerprinting, and elucidation of the repertoire of A-T mutations in Israel.
- Published in:
- Human Mutation, 1998, v. 11, n. 1, p. 69, doi. 10.1002/(SICI)1098-1004(1998)11:1<69::AID-HUMU11>3.0.CO;2-X
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- Publication type:
- Article
GBA mutations are associated with Rapid Eye Movement Sleep Behavior Disorder.
- Published in:
- Annals of Clinical & Translational Neurology, 2015, v. 2, n. 9, p. 941, doi. 10.1002/acn3.228
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- Publication type:
- Article
Ataxia-Telangiectasia: Founder Effect Among North African Jews.
- Published in:
- Human Molecular Genetics, 1996, v. 5, n. 12, p. 2033, doi. 10.1093/hmg/5.12.2033
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- Publication type:
- Article
Paired STSs amplified from radiation hybrids, and from associated YACs, identify highly polymorphic loci flanking the ataxia telangiectasia locus on chromosome 11q22–23.
- Published in:
- Human Molecular Genetics, 1993, v. 2, n. 7, p. 969
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- Publication type:
- Article