Found: 89
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Carrier screening for Gaucher disease: lessons for low-penetrance, treatable diseases.
- Published in:
- 2007
- By:
- Publication type:
- journal article
Cerebral pathological and compensatory mechanisms in the premotor phase of leucine-rich repeat kinase 2 parkinsonism.
- Published in:
- 2012
- By:
- Publication type:
- journal article
A Possible Modifying Effect of the G2019S Mutation in the LRRK2 Gene on GBA Parkinson's Disease.
- Published in:
- 2020
- By:
- Publication type:
- journal article
Tossing and Turning in Bed: Nocturnal Movements in Parkinson's Disease.
- Published in:
- 2020
- By:
- Publication type:
- journal article
Estimation of genetic risk function with covariates in the presence of missing genotypes.
- Published in:
- 2017
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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
Efficient estimation of nonparametric genetic risk function with censored data.
- Published in:
- Biometrika, 2015, v. 102, n. 3, p. 515, doi. 10.1093/biomet/asv030
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- Publication type:
- Article
Aberrant dopamine transporter and functional connectivity patterns in LRRK2 and GBA mutation carriers.
- Published in:
- NPJ Parkinson's Disease, 2022, v. 8, n. 1, p. 1, doi. 10.1038/s41531-022-00285-z
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- Publication type:
- Article
The Influence of GBA and LRRK2 on Mood Disorders in Parkinson's Disease.
- Published in:
- Movement Disorders Clinical Practice, 2023, v. 10, n. 4, p. 606, doi. 10.1002/mdc3.13722
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- Publication type:
- Article
Hierarchical Data-Driven Analysis of Clinical Symptoms Among Patients With Parkinson's Disease.
- Published in:
- Frontiers in Neurology, 2019, p. N.PAG, doi. 10.3389/fneur.2019.00531
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- Publication type:
- Article
A homozygous mutation in SLC1A4 in siblings with severe intellectual disability and microcephaly.
- Published in:
- Clinical Genetics, 2015, v. 88, n. 1, p. E1, doi. 10.1111/cge.12605
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- Publication type:
- Article
α4β2 nicotinic acetylcholine receptors in the early postnatal mouse superior cervical ganglion.
- Published in:
- Developmental Neurobiology (19328451), 2011, v. 71, n. 5, p. 390, doi. 10.1002/dneu.20870
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- Publication type:
- Article
Advances in the genetics of Parkinson's disease.
- Published in:
- Acta Pharmacologica Sinica, 2008, v. 29, n. 1, p. 21, doi. 10.1111/j.1745-7254.2008.00731.x
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- Publication type:
- Article
Selective deletion of theα5 subunit differentially affects somatic–dendriticversusaxonally targeted nicotinic ACh receptors in mouse.
- Published in:
- Journal of Physiology, 2005, v. 563, n. 1, p. 119, doi. 10.1113/jphysiol.2004.075788
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- Publication type:
- Article
Autonomic function in mice lacking α5 neuronal nicotinic acetylcholine receptor subunit.
- Published in:
- Journal of Physiology, 2002, v. 542, n. 2, p. 347, doi. 10.1113/jphysiol.2001.013456
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- Publication type:
- Article
The role of the nAChR subunits α5, β2, and β4 on synaptic transmission in the mouse superior cervical ganglion.
- Published in:
- Physiological Reports, 2019, v. 7, n. 6, p. N.PAG, doi. 10.14814/phy2.14023
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- Publication type:
- Article
Network abnormalities among non‐manifesting Parkinson disease related LRRK2 mutation carriers.
- Published in:
- Human Brain Mapping, 2019, v. 40, n. 8, p. 2546, doi. 10.1002/hbm.24543
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- Publication type:
- Article
Cytogenetic analysis of 101 skull base tumors.
- Published in:
- Head & Neck, 2008, v. 30, n. 5, p. 567, doi. 10.1002/hed.20741
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- Publication type:
- 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.
- Published in:
- 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
The clinical application of spectral karyotyping (SKY<sup>™</sup>) in the analysis of prenatally diagnosed extra structurally abnormal chromosomes (ESACs).
- Published in:
- Prenatal Diagnosis, 2003, v. 23, n. 1, p. 74, doi. 10.1002/pd.521
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- Publication type:
- Article
Decreased first trimester PAPP-A is a predictor of adverse pregnancy outcome.
- Published in:
- Prenatal Diagnosis, 2002, v. 22, n. 9, p. 778, doi. 10.1002/pd.407
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- Publication type:
- Article
Effect of fetal gender on first trimester markers and on Down syndrome screening.
- Published in:
- Prenatal Diagnosis, 2001, v. 21, n. 12, p. 1027, doi. 10.1002/pd.178
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- Publication type:
- Article
First trimester PAPP-A in the detection of non-Down syndrome aneuploidy.
- Published in:
- Prenatal Diagnosis, 2001, v. 21, n. 7, p. 547, doi. 10.1002/pd.105
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- Publication type:
- Article
Fetal muscle biopsy as a diagnostic tool in Duchenne muscular dystrophy.
- Published in:
- Prenatal Diagnosis, 1999, v. 19, n. 10, p. 921, doi. 10.1002/(SICI)1097-0223(199910)19:10<921::AID-PD660>3.0.CO;2-A
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- Publication type:
- Article
Central role of α7 nicotinic receptor in differentiation of the stratified squamous epithelium.
- Published in:
- Journal of Cell Biology, 2002, v. 159, n. 2, p. 325, doi. 10.1083/jcb.200206096
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- Publication type:
- Article
Two Ethnic Clusters with Huntington Disease in Israel: The Case of Mountain Jews and Karaites.
- Published in:
- Neurodegenerative Diseases, 2017, v. 17, n. 6, p. 281, doi. 10.1159/000479375
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- Publication type:
- Article
The prevalence and expression of inherited connexin 26 mutations associated with nonsyndromic hearing loss in the Israeli population.
- Published in:
- Human Genetics, 2000, v. 106, n. 1, p. 50, doi. 10.1007/s004390051009
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- Publication type:
- Article
Cerebral Imaging Markers of GBA and LRRK2 Related Parkinson’s Disease and Their First-Degree Unaffected Relatives.
- Published in:
- Brain Topography, 2018, v. 31, n. 6, p. 1029, doi. 10.1007/s10548-018-0653-8
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- Publication type:
- Article
A cognitive fMRI study in non-manifesting LRRK2 and GBA carriers.
- Published in:
- Brain Structure & Function, 2017, v. 222, n. 3, p. 1207, doi. 10.1007/s00429-016-1271-4
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- Publication type:
- Article
Progression in the LRRK2-Asssociated Parkinson Disease Population.
- Published in:
- JAMA Neurology, 2018, v. 75, n. 3, p. 312, doi. 10.1001/jamaneurol.2017.4019
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- Publication type:
- 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
Higher Frequency of Certain Cancers in LRRK2 G2019S Mutation Carriers With Parkinson Disease A Pooled Analysis.
- Published in:
- JAMA Neurology, 2015, v. 72, n. 1, p. 58, doi. 10.1001/jamaneurol.2014.1973
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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
Interest in Genetic Testing in Ashkenazi Jewish Parkinson's Disease Patients and Their Unaffected Relatives.
- Published in:
- Journal of Genetic Counseling, 2015, v. 24, n. 2, p. 238, doi. 10.1007/s10897-014-9756-x
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- Publication type:
- Article
Cerebral pathological and compensatory mechanisms in the premotor phase of leucine-rich repeat kinase 2 parkinsonism.
- Published in:
- Brain: A Journal of Neurology, 2012, v. 135, n. 12, p. 3687
- By:
- Publication type:
- Article
Differential phenotype in Parkinson's disease patients with severe versus mild GBA mutations.
- Published in:
- 2009
- By:
- Publication type:
- Letter
Clinical and screening implications of the I1307K adenomatous polyposis coli gene variant in Israeli Ashkenazi Jews with familial colorectal neoplasia. Evidence for a founder effect.
- Published in:
- 2002
- By:
- Publication type:
- journal article
Genome-wide case-only analysis of gene-gene interactions with known Parkinson's disease risk variants reveals link between LRRK2 and SYT10.
- Published in:
- NPJ Parkinson's Disease, 2023, v. 9, n. 1, p. 1, doi. 10.1038/s41531-023-00550-9
- By:
- Publication type:
- Article
Being ‘at-risk’ for developing cancer: cognitive representations and psychological outcomes.
- Published in:
- Journal of Behavioral Medicine, 2009, v. 32, n. 2, p. 197, doi. 10.1007/s10865-008-9178-z
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- Publication type:
- Article
Being 'at-risk' for developing cancer: cognitive representations and psychological outcomes.
- Published in:
- 2009
- By:
- Publication type:
- Journal Article
Unitization of route knowledge.
- Published in:
- Psychological Research, 2017, v. 81, n. 6, p. 1241, doi. 10.1007/s00426-016-0811-0
- By:
- 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
Subunit composition of α5-containing nicotinic receptors in the rodent habenula.
- Published in:
- Journal of Neurochemistry, 2012, v. 121, n. 4, p. 551, doi. 10.1111/j.1471-4159.2012.07714.x
- By:
- 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
- By:
- Publication type:
- Article
The Alzheimer disease BIN1 locus as a modifier of GBA-associated Parkinson disease.
- Published in:
- Journal of Neurology, 2015, v. 262, n. 11, p. 2443, doi. 10.1007/s00415-015-7868-3
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- Publication type:
- Article
Interspecies comparison of prostate cancer gene-expression profiles reveals genes associated with aggressive tumors.
- Published in:
- Prostate, 2009, v. 69, n. 10, p. 1034, doi. 10.1002/pros.20950
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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.
- Published in:
- 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