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Hereditary Neurological Disorders
TopicLeading institutions, researchers & key papers
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.
81
Works
IDs:OpenAlex
How has Hereditary Neurological Disorders's publication output changed over time?
ScholarIQpublication output · 1996–2020
Output declined50% over the shown period — from 2 works in 1996 to 1 in 2020.
2
1
1
1
2
1
2
2
1
1
1996200020032009201020112015201620182020
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
S4210224978. 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
S137905309. 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 JOURNALS
S4210224978329
S137905309291
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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Mutations in the endosomal ESCRTIII-complex subunit CHMP2B in frontotemporal dementia
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Whole-Genome Sequencing in a Patient with Charcot–Marie–Tooth Neuropathy
Paper
Gain of function Na <sub>V</sub> 1.7 mutations in idiopathic small fiber neuropathy
Paper
Carbohydrate mimicry between human ganglioside GM1 and <i>Campylobacter jejuni</i> lipooligosaccharide causes Guillain–Barré syndrome
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The gene encoding gigaxonin, a new member of the cytoskeletal BTB/kelch repeat family, is mutated in giant axonal neuropathy
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