Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Molecular findings in familial Parkinson disease in Spain.

Archives of neurology - 1 Jun 2002

Hoenicka Janet, Vidal Lídice, Morales Blas, Ampuero Israel, Jiménez-Jiménez F Javier, Berciano Jose, del Ser Teodoro, Jiménez Adriano, Ruíz Pedro G, de Yébenes Justo G

Abstract excerpt

BACKGROUND: Several genetic errors in alpha-synuclein (Park1) and ubiquitin carboxyl-terminal-hydrolase L1(Park5) genes cause autosomal dominant familial Parkinson disease. Mutations in the parkin gene (Park2) are the major cause of autosomal recessive Parkinson disease. OBJECTIVE: To analyze the clinical and molecular data of 19 Spanish kindreds (13 with recessive, 4 with dominant, and 2 with uncertain...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to alpha-Synuclein
Share to Blotting, Southern

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Genetic Carrier Screening

Share to Parkinsonian Disorders

Share to Synucleins

Share to Thiolester Hydrolases

Share to Ubiquitin Thiolesterase

Source

Identifiers

PMID: 12056932
DOI: 10.1001/archneur.59.6.966

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Molecular findings in familial Parkinson disease in Spain.PMID 12056932Read ↗

Relative high frequency of the c.255delA parkin gene mutation in Spanish patients with autosomal recessive parkinsonism.Semantic proximity Read ↗

A frequent LRRK2 gene mutation associated with autosomal dominant Parkinson's disease.Semantic proximity Read ↗

Lewy body Parkinson's disease in a large pedigree with 77 Parkin mutation carriers.Semantic proximity Read ↗

Case-control study of the parkin gene in early-onset Parkinson disease.Semantic proximity Read ↗

Heterogeneous phenotype in a family with compound heterozygous parkin gene mutations.Semantic proximity Read ↗

Genetic mutations in early-onset Parkinson's disease Mexican patients: molecular testing implications.Semantic proximity Read ↗

Identification of mutations in the PARK2 gene in Serbian patients with Parkinson's disease.Semantic proximity Read ↗

Analysis of the LRRK2 p.G2019S mutation in Colombian Parkinson's Disease Patients.Semantic proximity Read ↗

Second mutation in PARK2 is absent in patients with sporadic Parkinson's disease and heterozygous exonic deletions/duplications in parkin gene.Semantic proximity Read ↗

Prevalence and clinical features of LRRK2 mutations in patients with Parkinson's disease in southern Spain.Semantic proximity Read ↗

Rare heterozygous parkin variants in French early-onset Parkinson disease patients and controlsSemantic proximity Read ↗

The G2019S LRRK2 mutation in Brazilian patients with Parkinson's disease: phenotype in monozygotic twins.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.