Concepedia

R. E. Madrid

RE

Statistics

Publications

23

Citations

1.7K

H-Index

18

Active since

1975

Affiliations

New York State Office for People With Developmental Disabilities(Current)

North Tyneside General Hospital

Newcastle University

Columbia University

Northwestern University

R. E. Madrid is an author at New York State Office for People With Developmental Disabilities specializing in neurology, life sciences, and medicine.

Publications per year

1975–2019

23

Publications

23

Sequence Alterations within CYP7B1 Implicate Defective Cholesterol Homeostasis in Motor-Neuron Degeneration

Maria K. Tsaousidou, Karim Ouahchi, Yi Yang et al. · The American Journal of Human Genetics · 2008 · 186 citations · Full text

Life Sciences, Genetics, Neuroscience +15

The pathology of neuropathies with focal thickening of the myelin sheath (tomaculous neuropathy)

R. E. Madrid, Walter G. Bradley · Journal of the Neurological Sciences · 1975 · 182 citations

Medicine, Neurology, Pathology +15

Maternally inherited cardiomyopathy and hearing loss associated with a novel mutation in the mitochondrial tRNA(Lys) gene (G8363A).

Filippo M. Santorelli, Suk-Chun Mak, Magda El-Schahawi et al. · PubMed · 1996 · 170 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

The peroneal muscular atrophy syndrome: clinical, genetic, electrophysiological and nerve biopsy studies. I. Clinical, genetic and electrophysiological findings and classification.

Cynthia J. Davis, W. G. Bradley, R. E. Madrid · PubMed · 1978 · 144 citations

Medicine, Genetics, Neurology +17

Genetic spectrum of hereditary neuropathies with onset in the first year of life

Jonathan Baets, Tine Deconinck, Els De Vriendt et al. · Brain · 2011 · 133 citations · Full text

Life Sciences, Genetics, Neurology +16

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