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Mutation analysis of 4 candidate genes for hereditary neuralgic amyotrophy (HNA).
- Published in:
- Human Genetics, 2001, v. 108, n. 5, p. 390, doi. 10.1007/s004390100510
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- Publication type:
- Article
Peripheral myelin protein-22 expression in charcot-marie-tooth disease type 1a sural nerve biopsies.
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- Journal of Neuroscience Research, 1994, v. 37, n. 5, p. 654, doi. 10.1002/jnr.490370513
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- Publication type:
- Article
Reply: Predicted pathogenic missense mutation of PGRN found in a normal control.
- Published in:
- 2010
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- Publication type:
- Journal Article
Ataxin-7 aggregation and ubiquitination in infantile SCA7 with 180 CAG repeats.
- Published in:
- 2004
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- Publication type:
- Journal Article
A novel presenilin 1 mutation associated with Pick's disease but not ß-amyloid plaques.
- Published in:
- 2004
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- Publication type:
- Journal Article
PRNP Val129 homozygosity increases risk for early-onset Alzheimer's disease.
- Published in:
- 2003
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- Publication type:
- Journal Article
Further evidence that neurofilament light chain gene mutations can cause Charcot-Marie-Tooth disease type 2E.
- Published in:
- 2001
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- Publication type:
- journal article
Presenilin-I polymorphism and hereditary cerebral hemorrhage with amyloidosis, Dutch type.
- Published in:
- Annals of Neurology, 1997, v. 42, n. 1, p. 108, doi. 10.1002/ana.410420116
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- Publication type:
- Article
Dutch hereditary cerebral amyloid angiopathy: Structural lesions and apolipoprotein E genotype.
- Published in:
- Annals of Neurology, 1997, v. 41, n. 5, p. 695, doi. 10.1002/ana.410410523
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- Publication type:
- Article
Deletion in the CMT1A locus on chromosome 17p11.2 in hereditary neuropathy with liability to pressure palsies.
- Published in:
- Annals of Neurology, 1994, v. 35, n. 6, p. 704, doi. 10.1002/ana.410350611
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- Publication type:
- Article
Lack of association between GABRA3 and unipolar affective disorder: a multicentre study.
- Published in:
- International Journal of Neuropsychopharmacology, 2001, v. 4, n. 3, p. 273, doi. 10.1017/S1461145701002449
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- Publication type:
- Article
Familial clustering and genetic risk for dementia in a genetically isolated Dutch population.
- Published in:
- Brain: A Journal of Neurology, 2004, v. 127, n. 7, p. 1641, doi. 10.1093/brain/awh179
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- Article
Cerebral amyloid angiopathy is a pathogenic lesion in Alzheimer's disease due to a novel presenilin 1 mutation.
- Published in:
- 2001
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- Publication type:
- journal article
CAG repeat expansion in the TATA box-binding protein gene causes autosomal dominant cerebellar ataxia.
- Published in:
- 2001
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- Publication type:
- journal article
Pathology of early-onset Alzheimer's disease cases bearing the Thr113-114ins presenilin-1 mutation.
- Published in:
- 2000
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- Publication type:
- journal article
Presentation of amyloidosis in carriers of the codon 692 mutation in the amyloid precursor protein gene (APP692).
- Published in:
- 2000
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- Publication type:
- journal article
The Thr124Met mutation in the peripheral myelin protein zero (MPZ) gene is associated with a clinically distinct Charcot-Marie-Tooth phenotype.
- Published in:
- Brain: A Journal of Neurology, 1999, v. 122, n. 2, p. 281, doi. 10.1093/brain/122.2.281
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- Publication type:
- Article
Mortality from hereditary cerebral haemorrhage with amyloidosis--Dutch type. The impact of sex, parental transmission and year of birth.
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- Brain: A Journal of Neurology, 1997, v. 120, n. 12, p. 2243, doi. 10.1093/brain/120.12.2243
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- Publication type:
- Article
Failure of familial Alzheimer's disease to segregate with the A4-amyloid gene in several European families.
- Published in:
- Nature, 1987, v. 329, n. 6135, p. 153, doi. 10.1038/329153a0
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- Publication type:
- Article
Involvement of the auditory brainstem system in spinocerebellar ataxia type 2 (SCA2), type 3 (SCA3) and type 7 (SCA7).
- Published in:
- Neuropathology & Applied Neurobiology, 2008, v. 34, n. 5, p. 479, doi. 10.1111/j.1365-2990.2007.00933.x
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- Publication type:
- Article
Spinocerebellar ataxia type 7 (SCA7): widespread brain damage in an adult-onset patient with progressive visual impairments in comparison with an adult-onset patient without visual impairments.
- Published in:
- Neuropathology & Applied Neurobiology, 2008, v. 34, n. 2, p. 155, doi. 10.1111/j.1365-2990.2007.00882.x
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- Publication type:
- Article
Degeneration of ingestion-related brainstem nuclei in spinocerebellar ataxia type 2, 3, 6 and 7.
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- Neuropathology & Applied Neurobiology, 2006, v. 32, n. 6, p. 635, doi. 10.1111/j.1365-2990.2006.00772.x
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- Publication type:
- Article
Electronic EJHG: The Web and the Wider World.
- Published in:
- European Journal of Human Genetics, 2004, v. 12, n. 1, p. 1, doi. 10.1038/sj.ejhg.5201139
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- Publication type:
- Article
Presenile Alzheimer dementia characterized by amyloid angiopathy and large amyloid core type senile plaques in the APP 692Ala→Gly mutation.
- Published in:
- Acta Neuropathologica, 1998, v. 96, n. 3, p. 253, doi. 10.1007/s004010050892
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- Publication type:
- Article
TARDBP mutation p. Ile383 Val associated with semantic dementia and complex proteinopathy.
- Published in:
- Neuropathology & Applied Neurobiology, 2014, v. 40, n. 2, p. 225, doi. 10.1111/nan.12063
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- Publication type:
- Article
Alzheimer risk associated with a copy number variation in the complement receptor 1 increasing C3b/C4b binding sites.
- Published in:
- Molecular Psychiatry, 2012, v. 17, n. 2, p. 223, doi. 10.1038/mp.2011.24
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- Publication type:
- Article
Chromosome 10q harbors a susceptibility locus for bipolar disorder in Ashkenazi Jewish families.
- Published in:
- Molecular Psychiatry, 2008, v. 13, n. 4, p. 442, doi. 10.1038/sj.mp.4002039
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- Publication type:
- Article
HTR2C (cys23ser) polymorphism influences early onset in bipolar patients in a large European multicenter association study.
- Published in:
- 2007
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- Publication type:
- Letter
A major SNP haplotype of the arginine vasopressin 1B receptor protects against recurrent major depression.
- Published in:
- Molecular Psychiatry, 2004, v. 9, n. 3, p. 287, doi. 10.1038/sj.mp.4001420
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- Publication type:
- Article
Genetics of personality: are we making progress?
- Published in:
- Molecular Psychiatry, 2003, v. 8, n. 10, p. 840, doi. 10.1038/sj.mp.4001367
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- Publication type:
- Article
A novel CpG-associated brain-expressed candidate gene for chromosome 18q-linked bipolar disorder.
- Published in:
- Molecular Psychiatry, 2003, v. 8, n. 1, p. 83, doi. 10.1038/sj.mp.4001190
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- Publication type:
- Article
Tau negative frontal lobe dementia at 17q21: significant finemapping of the candidate region to a 4.8 cM interval.
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- Molecular Psychiatry, 2002, v. 7, n. 10, p. 1064, doi. 10.1038/sj.mp.4001198
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- Publication type:
- Article
Epistatic effect of genes from the dopamine and serotonin systems on the temperament traits of Novelty Seeking and Harm Avoidance.
- Published in:
- Molecular Psychiatry, 2002, v. 7, n. 5, p. 448, doi. 10.1038/sj.mp.4001005
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- Publication type:
- Article
Allelic distribution of CTG18.1 in Caucasian populations: association studies in bipolar disorder, schizophrenia, and ataxia.
- Published in:
- Molecular Psychiatry, 2000, v. 5, n. 4, p. 439, doi. 10.1038/sj.mp.4000747
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- Publication type:
- Article
High-level transgene expression in primary human T lymphocytes and adult bone marrow CD34<sup>+</sup> cells via electroporation-mediated gene delivery.
- Published in:
- Gene Therapy, 2000, v. 7, n. 16, p. 1431, doi. 10.1038/sj.gt.3301252
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- Publication type:
- Article
Nonviral transfection of distinct types of human dendritic cells: high-efficiency gene transfer by electroporation into hematopoietic progenitor- but not monocyte-derived dendritic cells.
- Published in:
- Gene Therapy, 1998, v. 5, n. 5, p. 700, doi. 10.1038/sj.gt.3300626
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- Publication type:
- Article
Apolipoprotein E epsilon4 and the risk of dementia with stroke. A population-based investigation.
- Published in:
- 1997
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- Publication type:
- journal article
Variable expression of presenilin 1 is not a major determinant of risk for late-onset Alzheimer's Disease.
- Published in:
- Journal of Neurology, 2001, v. 248, n. 11, p. 935, doi. 10.1007/s004150170044
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- Publication type:
- Article
PMP22 Thr118Met is not a clinically relevant CMT1 marker.
- Published in:
- Journal of Neurology, 2000, v. 247, n. 9, p. 696, doi. 10.1007/s004150070113
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- Publication type:
- Article
Hereditary neuralgic amyotrophy (HNA) is genetically heterogeneous.
- Published in:
- 2002
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- Publication type:
- Abstract
A CLONE CONTIG OF 12Q24.3 ENCOMPASSING THE DISTAL HEREDITARY MOTOR NEUROPATHY TYPE II GENE.
- Published in:
- Journal of the Peripheral Nervous System, 2000, v. 5, n. 4, p. 242, doi. 10.1111/j.1529-8027.2000.22-25.x
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- Publication type:
- Article
Pregnancy after preimplantation genetic diagnosis for Charcot-Marie-Tooth disease type 1A.
- Published in:
- Molecular Human Reproduction, 1998, v. 4, n. 10, doi. 10.1093/molehr/4.10.978
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- Publication type:
- Article
EFNS guidelines for the molecular diagnosis of neurogenetic disorders: motoneuron, peripheral nerve and muscle disorders.
- Published in:
- European Journal of Neurology, 2011, v. 18, n. 2, p. 207, doi. 10.1111/j.1468-1331.2010.03069.x
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- Publication type:
- Article
EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias.
- Published in:
- European Journal of Neurology, 2010, v. 17, n. 5, p. 641, doi. 10.1111/j.1468-1331.2010.02985.x
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- Publication type:
- Article
EFNS guidelines on the molecular diagnosis of ataxias and spastic paraplegias.
- Published in:
- European Journal of Neurology, 2010, v. 17, n. 2, p. 179, doi. 10.1111/j.1468-1331.2009.02873.x
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- Publication type:
- Article
EFNS guidelines on the molecular diagnosis of mitochondrial disorders.
- Published in:
- European Journal of Neurology, 2009, v. 16, n. 12, p. 1255, doi. 10.1111/j.1468-1331.2009.02811.x
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- Publication type:
- Article
EFNS guidelines on the molecular diagnosis of neurogenetic disorders: general issues, Huntington’s disease, Parkinson’s disease and dystonias.
- Published in:
- European Journal of Neurology, 2009, v. 16, n. 7, p. 777, doi. 10.1111/j.1468-1331.2009.02646.x
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- Publication type:
- Article
Pure progressive amnesia as variant of genetically proven Alzheimer disease.
- Published in:
- 2009
- By:
- Publication type:
- Letter
Hereditary motor and sensory neuropathy associated with auditory neuropathy in a Gypsy family.
- Published in:
- Pflügers Archiv: European Journal of Physiology, 2000, v. 439, n. 7, p. r208, doi. 10.1007/BF03376574
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- Publication type:
- Article
A Second Family with Autosomal Dominant Burning Feet Syndrome.
- Published in:
- Annals of the New York Academy of Sciences, 1999, v. 883, n. 1, p. 445, doi. 10.1111/j.1749-6632.1999.tb08606.x
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- Publication type:
- Article