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Publications by Lorena Travaglini

Novel Homozygous GBA2 Mutation in a Patient With Complicated Spastic Paraplegia

Clinical Neurology and Neurosurgery

English

ExpandingCEP290mutational Spectrum in Ciliopathies

American Journal of Medical Genetics, Part A

English

Related publications

Spastic Paraplegia With SPG11 Gene delE39 in a Turkish Patient

Gazi Medical Journal

English

GCH1 Heterozygous Mutation Identified by Whole-Exome Sequencing as a Treatable Condition in a Patient Presenting With Progressive Spastic Paraplegia

Journal of Neurology

English

A Hereditary Spastic Paraplegia Mutation in Kinesin-1a/Kif5a Disrupts Neurofilament Transport

Molecular Neurodegeneration

Molecular Neuroscience

Molecular Biology

English

GNE Myopathy in Turkish Sisters With a Novel Homozygous Mutation

Case Reports in Neurological Medicine

English

AP4B1-associated Hereditary Spastic Paraplegia: Expansion of Phenotypic Spectrum Related to Homozygous p.Thr387fs Variant

Journal of Applied Genetics

English

Spastic Paraplegia in Lathyriasis

English

A Novel Homozygous Truncating Mutation in LAMB2 Gene in a Chinese Uyghur Patient With Severe Phenotype Pierson Syndrome

Frontiers in Medicine

English

Hereditary Spastic Paraplegia

Schweizer Archiv für Neurologie und Psychiatrie

English

Hereditary Spastic Paraplegia and Amyotrophy Associated With a Novel Locus on Chromosome 19

Molecular Neuroscience

English