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Hereditary Neurological Disorders

TopicLeading institutions, researchers & key papers

Hereditary Neurological Disorders is a topic indexed in ScholarIQ from OpenAlex.

What is known about Hereditary Neurological Disorders?

ScholarIQrecord summary

This cluster of papers explores the genetic basis and molecular mechanisms underlying various neuropathies, including Charcot-Marie-Tooth disease, hereditary spastic paraplegia, and related disorders. It covers topics such as genetic mutations, axonal degeneration, nerve growth factor, mitochondrial dysfunction, and microtubule dynamics. The research also delves into the role of neurofilament mutations and ganglioside-induced differentiation in these neuropathies.

How many works does Hereditary Neurological Disorders have?

ScholarIQindexed works

Hereditary Neurological Disorders has 81 works in the ScholarIQ index. The count is the OpenAlex total, not the number of papers listed on this page.

What is the OpenAlex record for Hereditary Neurological Disorders?

ScholarIQopenalex

The OpenAlex for Hereditary Neurological Disorders is on the source record.

What are the most-cited papers on Hereditary Neurological Disorders?

ScholarIQmost cited works
Whole-Genome Sequencing in a Patient with Charcot–Marie–Tooth Neuropathy
James R. Lupski, Jeffrey G. Reid, Claudia Gonzaga‐Jauregui, David Rio Deiros, David C.Y. Chen, Lynne Nazareth, Matthew N. Bainbridge, Huyen Dinh, Chyn Jing, David A. Wheeler, Amy L. McGuire, Feng Zhang, Paweł Stankiewicz, John Halperin, Chengyong Yang, Curtis Gehman, Danwei Guo, Rola K. Irikat, Warren Tom, Nick J. Fantin, Donna M. Muzny, Richard A. Gibbs
New England Journal of Medicine. 2010765 CitationsOPEN ACCESS
Gain of function Na <sub>V</sub> 1.7 mutations in idiopathic small fiber neuropathy
Catharina G. Faber, Janneke G. J. Hoeijmakers, Hye‐Sook Ahn, Xiaoyang Cheng, Chongyang Han, Jin‐Sung Choi, Mark Estación, Giuseppe Lauria, Els K. Vanhoutte, Monique M. Gerrits, Sulayman D. Dib‐Hajj, Joost P.H. Drenth, Stephen G. Waxman, Ingemar S. J. Merkies
Annals of Neurology. 2011553 Citations
Multi-disciplinary clinical study of Smith-Magenis syndrome (deletion 17p11.2)
Frank Greenberg, Richard A. Lewis, Lorraine Potocki, Daniel G. Glaze, Julie T. Parke, James M. Killian, Mary A. Murphy, Daniel Williamson, Frank R. Brown, Robert V. Dutton, Charles W. McCluggage, Ellen M. Friedman, Marcelle Sulek, James R. Lupski
American Journal of Medical Genetics. 1996329 Citations
Gene dosage is a mechanism for Charcot-Marie-Tooth disease type 1A
James R. Lupski, Carol A. Wise, Akira Kuwano, Liu Pentao, Julie T. Parke, Daniel G. Glaze, David H. Ledbetter, Frank Greenberg, Pragna I. Patel
Nature Genetics. 1992291 Citations
Emerging Role for Autophagy in the Removal of Aggresomes in Schwann Cells
Jenny Fortun, William A. Dunn, Shale Joy, Jie Li, Lucia Notterpek
Journal of Neuroscience. 2003262 CitationsOPEN ACCESS

Where is Hereditary Neurological Disorders research published, and who funds it?

ScholarIQvenues & funding sources

TOP FUNDERS

National Science Foundation—
NIH—
Wellcome Trust—
European Research Council—
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How much of the research on Hereditary Neurological Disorders is open access?

ScholarIQopen access share
60%OPEN ACCESS
Gold
13%
Green
7%
Hybrid
20%
Bronze
20%
Closed
40%

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