<i>MECP2</i> mutation in male patients with non‐specific X‐linked mental retardation

Alfredo Orrico, Ching‐Wan Lam, Lucia Galli, +6

FEBS Letters

Severe Mental RetardationMendelian DisorderPsychiatryGenetic DisorderGenetics +12

Cloning of the gene for ocular albinism type 1 from the distal short arm of the X chromosome

Maria Teresa Bassi, Maria Vittoria Schiaffino, Alessandra Renieri, +7

Nature Genetics

CytogeneticsX ChromosomeGeneticsGenetic DisorderMolecular Biology +8

X-linked Alport syndrome: an SSCP-based mutation survey over all 51 exons of the COL4A5 gene.

Alessandra Renieri, Mirella Bruttini, Lucia Galli, +17

PubMed

Phenotypic and molecular characterisation of the Aarskog–Scott syndrome: a survey of the clinical variability in light of FGD1 mutation analysis in 46 patients

Alfredo Orrico, Lucia Galli, Maria Luigia Cavaliere, +6

European Journal of Human Genetics

Aarskog–scott SyndromeMolecular CharacterisationMendelian DisorderGenetic DisorderMedicine +8

Analysis of the OA1 gene reveals mutations in only one-third of patients with X-linked ocular albinism

Maria Vittoria Schiaffino, Maria Teresa Bassi, Lucia Galli, +10

Human Molecular Genetics

Frequency and localization of mutations in the 106 exons of theRYR1 gene in 50 individuals with malignant hyperthermia

Lucia Galli, Alfredo Orrico, Stefania Lorenzini, +5

Human Mutation

A Rett syndrome MECP2 mutation that causes mental retardation in men

Maria Teresa Dotti, Alfredo Orrico, Nicola De Stefano, +7

Neurology

SCN1A MUTATION ASSOCIATED WITH ATYPICAL PANAYIOTOPOULOS SYNDROME

Salvatore Grosso, Alfredo Orrico, Lucia Galli, +3

Neurology

NeuropsychologyBrain DevelopmentNeurological DisorderGeneticsClinical Neurology +24

Identification and characterization of three novel mutations in the<i>CASQ1</i>gene in four patients with tubular aggregate myopathy

Virginia Barone, Valeria Del Re, Alessandra Gamberucci, +18

Human Mutation

A Mutation in the<i>CASQ1</i>Gene Causes a Vacuolar Myopathy with Accumulation of Sarcoplasmic Reticulum Protein Aggregates

Daniela Rossi, Bianca Vezzani, Lucia Galli, +15

Human Mutation

Muscle FunctionCharacteristic InclusionsPathologyMolecular BiologyCytoskeleton +16