Matilde Laurá

Hereditary Sensory Neuropathy Type 1 Is Caused by the Accumulation of Two Neurotoxic Sphingolipids

Anke Penno, Mary M. Reilly, Henry Houlden et al. · Journal of Biological Chemistry · 2010 · 378 citations · Full text

Medicine, Neurobiology, Neuroscience +17

Charcot–Marie–Tooth disease: frequency of genetic subtypes and guidelines for genetic testing

Sinéad M. Murphy, Matilde Laurá, Katherine A. Fawcett et al. · Journal of Neurology Neurosurgery & Psychiatry · 2012 · 372 citations

Life Sciences, Genetics, Molecular Genetics +17

CMT subtypes and disease burden in patients enrolled in the Inherited Neuropathies Consortium natural history study: a cross-sectional analysis

Vera Fridman, Brian N. Bundy, Mary M. Reilly et al. · Journal of Neurology Neurosurgery & Psychiatry · 2014 · 344 citations · Full text

Life Sciences, Genetics, Neurology +17

Identification of genetic variants associated with Huntington's disease progression: a genome-wide association study

Davina J. Hensman Moss, Antonio F. Pardiñas, Douglas R. Langbehn et al. · The Lancet Neurology · 2017 · 332 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14

Ascorbic acid in Charcot–Marie–Tooth disease type 1A (CMT-TRIAAL and CMT-TRAUK): a double-blind randomised trial

Davide Pareyson, Mary M. Reilly, Angelo Schenone et al. · The Lancet Neurology · 2011 · 260 citations · Full text

Dentistry, Diagnostic Sciences, Oral Diagnosis +4