Works matching Familial diseases
Results: 5000
Familial risks of hospitalization for Parkinson’s disease in first-degree relatives: a nationwide follow-up study from Sweden.
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- Neurogenetics, 2006, v. 7, n. 4, p. 231, doi. 10.1007/s10048-006-0055-z
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- Article
Clinical, neuropathological and genotypic variability in SNCA A53T familial Parkinson’s disease.
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- Acta Neuropathologica, 2008, v. 116, n. 1, p. 25, doi. 10.1007/s00401-008-0372-4
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- Article
Neuropsychological profiles of familial Alzheimer's disease associated with mutations in the presenilin 1 and amyloid precursor protein genes.
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- Journal of Neurology, 2001, v. 248, n. 1, p. 45, doi. 10.1007/s004150170268
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- Publication type:
- Article
Magnetic resonance imaging evidence for presymptomatic change in thalamus and caudate in familial Alzheimer’s disease.
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- Brain: A Journal of Neurology, 2013, v. 136, n. 5, p. 1399, doi. 10.1093/brain/awt065
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- Article
Comparison of clinical characteristics between familial and non-familial early onset Alzheimer's disease.
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- Journal of Neurology, 2012, v. 259, n. 10, p. 2182, doi. 10.1007/s00415-012-6481-y
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- Article
Neuropathology and biochemistry of early onset familial Alzheimer’s disease caused by presenilin-1 missense mutation Thr116Asn.
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- Journal of Neural Transmission, 2018, v. 125, n. 6, p. 965, doi. 10.1007/s00702-018-1850-z
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- Article
One novel presenilin-1 gene mutation in a Chinese pedigree of familial Alzheimer's disease.
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- Journal of Alzheimer's Disease, 2005, v. 7, n. 2, p. 119, doi. 10.3233/JAD-2005-7204
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- Article
MITOCHONDRIAL COMPLEX I, II/III, AND IV ACTIVITIES IN FAMILIAL AND SPORADIC PARKINSON'S DISEASE.
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- International Journal of Neuroscience, 2005, v. 115, n. 4, p. 479, doi. 10.1080/00207450590523017
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- Article
Familial recurrence of congenital heart disease: an overview and review of the literature.
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- 2007
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- Publication type:
- journal article
Genotype–phenotype correlation: Familial Parkinson disease.
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- Neuropathology, 2003, v. 23, n. 1, p. 90, doi. 10.1046/j.1440-1789.2003.00476.x
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- Article
Allelic Interference: A Mechanism for Trans-Dominant Transmission of Loss of Function in the Neurodegeneration of Familial Alzheimer's Disease.
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- Neurodegenerative Diseases, 2014, v. 13, n. 2/3, p. 126, doi. 10.1159/000354241
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- Article
Sodium channel gene (SCN5A) mutations in 44 index patients with Brugada syndrome: Different incidences in familial and sporadic disease(Communicated by Christine Van Broeckhoven)Online Citation: Human Mutation, Mutation in Brief #615 (2003) Online http://www.interscience.wiley.com/humanmutation/pdf/mutation/615.pdf)
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- Human Mutation, 2003, v. 21, n. 6, p. 651, doi. 10.1002/humu.9144
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- Article
Disease onset in familial and sporadic primary progressive multiple sclerosis.
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- Multiple Sclerosis (13524585), 2010, v. 16, n. 6, p. 694, doi. 10.1177/1352458510367661
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- Article
Familial Lewy body diseases.
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- 2002
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- Publication type:
- journal article
COL4A2 mutation associated with familial porencephaly and small-vessel disease.
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- European Journal of Human Genetics, 2012, v. 20, n. 8, p. 844, doi. 10.1038/ejhg.2012.20
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- Publication type:
- Article
Familial aggregation of Crohn's disease and necrotizing sarcoid-like granulomatous disease.
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- European Journal of Rheumatology, 2015, v. 2, n. 3, p. 122, doi. 10.5152/eurjrheum.2015.0102
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- Article
Systematic review and meta-analysis of Japanese familial Alzheimer's disease and FTDP-17.
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- Journal of Human Genetics, 2015, v. 60, n. 5, p. 281, doi. 10.1038/jhg.2015.15
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- Publication type:
- Article
Germline mutational analysis of presenilin 1 and APP genes in Jewish-Israeli individuals with familial or early-onset Alzheimer disease using denaturing gradient gel electrophoresis (DGGE).
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- European Journal of Human Genetics, 1998, v. 6, n. 2, p. 176, doi. 10.1038/sj.ejhg.5200160
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- Article
Renal disease in familial dysautonomia.
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- Kidney International, 1980, v. 17, n. 1, p. 102, doi. 10.1038/ki.1980.12
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- Article
Familial risks for hospitalized Graves' disease and goiter.
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- European Journal of Endocrinology, 2009, v. 161, n. 4, p. 623, doi. 10.1530/EJE-09-0349
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- Publication type:
- Article
Evidence for Increased Clinical Severity of Familial and Sporadic Paget's Disease of Bone in Campania, Southern Italy.
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- Journal of Bone & Mineral Research, 2006, v. 21, n. 12, p. 1828, doi. 10.1359/JBMR.060822
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- Article
Homozygous Familial Hypercholesterolemia with Generalized Arterial Disease.
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- Medical Principles & Practice, 2007, v. 16, n. 1, p. 75, doi. 10.1159/000096146
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- Article
Fine mapping of 10q and 18q for familial Alzheimer's disease in Caribbean Hispanics.
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- Molecular Psychiatry, 2004, v. 9, n. 11, p. 1042, doi. 10.1038/sj.mp.4001538
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- Article
Familial and Sporadic Inflammatory Bowel Disease: Comparison of Clinical Features and Serological Markers in a Genetically Homogeneous Population.
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- Scandinavian Journal of Gastroenterology, 2002, v. 37, n. 6, p. 692, doi. 10.1080/00365520212511
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- Article
Familial Paget disease and SQSTM1 mutations in New Zealand.
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- 2011
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- Publication type:
- journal article
TDP-43 pathological changes in early onset familial and sporadic Alzheimer's disease, late onset Alzheimer's disease and Down's Syndrome: association with age, hippocampal sclerosis and clinical phenotype.
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- Acta Neuropathologica, 2011, v. 122, n. 6, p. 703, doi. 10.1007/s00401-011-0879-y
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- Article
PLD3 in non-familial Alzheimer's disease.
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- Nature, 2015, v. 520, n. 7545, p. E3, doi. 10.1038/nature14039
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- Article
Young-Adult Hypertension as a Presentation of Familial Renal Disease.
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- Journal of Clinical Hypertension, 2004, v. 6, n. 4, p. 198, doi. 10.1111/j.1524-6175.2004.02853.x
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- Article
Familial Creutzfeldt-Jakob disease with the E200K mutation: longitudinal neuroimaging from asymptomatic to symptomatic CJD.
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- Journal of Neurology, 2015, v. 262, n. 3, p. 604, doi. 10.1007/s00415-014-7615-1
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- Article
Familial Benign Chronic Pemphigus (Hailey-Hailey Disease).
- Published in:
- 1976
- Publication type:
- Case Study
Very early-onset familial Alzheimer's disease: a novel presenilin 1 mutation.
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- International Journal of Geriatric Psychiatry, 2002, v. 17, n. 7, p. 649, doi. 10.1002/gps.657
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- Article
Shedding new light on the pathogenesis of familial Alzheimer disease.
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- Clinical Genetics, 2000, v. 58, n. 4, p. 266, doi. 10.1034/j.1399-0004.2000.580403.2.x
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- Publication type:
- Article
Familial Risk of Inflammatory Bowel Disease: A Population-Based Cohort Study 1977-2011.
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- American Journal of Gastroenterology (Springer Nature), 2015, v. 110, n. 4, p. 564, doi. 10.1038/ajg.2015.50
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- Article
Molecular genetics of familial hematuric diseases.
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- Nephrology Dialysis Transplantation, 2013, v. 28, n. 12, p. 2946, doi. 10.1093/ndt/gft253
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- Article
FAMILIAL DYSAUTONOMIA-- Disease with a Future.
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- 1966
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- Publication type:
- Editorial
The Familial Occurrence of Chronic Obstructive Pulmonary Disease.
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- Annals of Internal Medicine, 1965, v. 63, n. 6, p. 1001, doi. 10.7326/0003-4819-63-6-1001
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- Publication type:
- Article
Characterization and Molecular Profiling of <i>PSEN1</i> Familial Alzheimer's Disease iPSC-Derived Neural Progenitors.
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- PLoS ONE, 2014, v. 9, n. 1, p. 1, doi. 10.1371/journal.pone.0084547
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- Publication type:
- Article
Specific Disruption of Hippocampal Mossy Fiber Synapses in a Mouse Model of Familial Alzheimer's Disease.
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- PLoS ONE, 2014, v. 9, n. 1, p. 1, doi. 10.1371/journal.pone.0084349
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- Publication type:
- Article
Rare autosomal copy number variations in early-onset familial Alzheimer's disease.
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- Molecular Psychiatry, 2014, v. 19, n. 6, p. 676, doi. 10.1038/mp.2013.77
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- Publication type:
- Article
RBC acetyl cholinesterase: A poor man's early diagnostic biomarker for familial alzheimer's and Parkinson's disease dementia.
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- Journal of Neurosciences in Rural Practice, 2015, v. 6, n. 1, p. 33, doi. 10.4103/0976-3147.143187
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- Article
Familial Moyamoya Disease in Two European Children.
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- Journal of Child Neurology, 2007, v. 22, n. 12, p. 1371, doi. 10.1177/0883073807307101
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- Article
Relative Ratio and Level of Amyloid-β 42 Surrogate in Cerebrospinal Fluid of Familial Alzheimer Disease Patients with Presenilin 1 Mutations.
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- Neurodegenerative Diseases, 2014, v. 13, n. 2/3, p. 166, doi. 10.1159/000355258
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- Article
Ileal GEP-NEN in Mother and Son -- Option for Familial Disease.
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- Neuroendocrinology, 2012, v. 96, p. 35
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- Publication type:
- Article
Regression methods for assessing familial aggregation of disease.
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- Statistics in Medicine, 2003, v. 22, n. 9, p. 1447, doi. 10.1002/sim.1504
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- Publication type:
- Article
Kikuchi-Fujimoto's disease: report of familial occurrence in two human leucocyte antigen-identical non-twin sisters.
- Published in:
- 2002
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- Publication type:
- journal article
ON THE QUESTION OF WHETHER A DISEASE IS FAMILIAL.
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- Journal of the American Statistical Association, 1967, v. 62, n. 318, p. 409, doi. 10.1080/01621459.1967.10482918
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- Publication type:
- Article
LRRK2 mutation in familial Parkinson’s disease in a Taiwanese population: clinical, PET, and functional studies.
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- Journal of Biomedical Science, 2008, v. 15, n. 5, p. 661, doi. 10.1007/s11373-008-9260-0
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- Publication type:
- Article
Familial Parkinson's disease: a community-based study.
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- European Journal of Neurology, 2003, v. 10, n. 2, p. 159, doi. 10.1046/j.1468-1331.2003.00532.x
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- Publication type:
- Article
The surprising implications of familial association in disease risk.
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- 2018
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- Publication type:
- journal article
A new phenotype of mitochondrial disease characterized by familial late-onset predominant axial myopathy and encephalopathy.
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- 2011
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- Publication type:
- Report