Linkage, clinical features, and prognosis of autosomal dominant polycystic kidney disease types 1 and 2.

Roser Torrá, Célia Bádenas, A Darnell, +4

Journal of the American Society of Nephrology

Catalan FamiliesGeneticsGenetic EpidemiologyHuman PolymorphismPathology +14

WASP gene mutations in Wiskott-Aldrich syndrome and X-linked thrombocytopenia

Jonathan M.J. Derry, Joshua Kerns, Kenneth I. Weinberg, +5

Human Molecular Genetics

Clinical, neuropathologic, and genetic studies of a large spinocerebellar ataxia type 1 (SCA1) kindred

D. E. Genis, T. Matilla, V. Volpini, +5

Neurology

Ancestral Origins of the Machado-Joseph Disease Mutation: A Worldwide Haplotype Study

Cláudia Gaspar, Íscia Lopes‐Cendes, Sean M. Hayes, +24

The American Journal of Human Genetics

Ancestral OriginsGenetic DisorderGeneticsEvolutionary BiologyGenetic Variation +6

Genetic heterogeneity in cystinuria: the SLC3A1 gene is linked to type I but not to type III cystinuria.

Marı́a Julia Calonge, V. Volpini, Luigi Bisceglia, +7

Proceedings of the National Academy of Sciences

GeneticsRenal PathologyPathologyType Iii CystinuriaMolecular Genetics +14

A nuclear defect in the 4p16 region predisposes to multiple mitochondrial DNA deletions in families with Wolfram syndrome.

Antoni Barrientos, V. Volpini, Jordi Casademont, +8

Journal of Clinical Investigation

GeneticsMolecular BiologyPathologyMolecular GeneticsDisease Gene Identification +18

Autosomal recessive Wolfram syndrome associated with an 8.5-kb mtDNA single deletion.

Antoni Barrientos, J Casademont, Albert Saiz, +7

PubMed

Genetic Analysis of 27 Spanish Patients with Hemiplegic Migraine, Basilar-Type Migraine and Childhood Periodic Syndromes

Ester Cuenca-León, Roser Corominas, Noèlia Fernàndez‐Castillo, +5

Cephalalgia

Phenotypic spectrum of MFN2 mutations in the Spanish population

Carlos Casasnovas, Isabel Banchs, Julien Cassereau, +5

Journal of Medical Genetics

Spinocerebellar ataxia type 10 is rare in populations other than Mexicans

Taeko Matsuura, Laura P.W. Ranum, V. Volpini, +6

Neurology

NeurogenomicsGeneticsMolecular GeneticsDisease Gene IdentificationSynaptic Signaling +17