Craig Blackstone
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Explore the profile of Craig Blackstone including associated specialties, affiliations and a list of published articles.
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115
Citations
8079
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Recent Articles
1.
Schierbaum L, Quiroz V, Yang K, Rong J, Battaglia N, Zubair U, et al.
Neurol Genet
. 2025 Feb;
11(2):e200249.
PMID: 39996129
Objectives: The primary objective of this paper was to present the establishment of the Spastic Paraplegia-Centers of Excellence Research Network (SP-CERN) aimed at promoting clinical trial readiness for hereditary spastic...
2.
Diarra S, Ghosh S, Cisse L, Coulibaly T, Yalcouye A, Harmison G, et al.
Neurobiol Dis
. 2024 May;
198:106537.
PMID: 38772452
Hereditary spastic paraplegia (HSP) comprises a large group of neurogenetic disorders characterized by progressive lower extremity spasticity. Neurological evaluation and genetic testing were completed in a Malian family with early-onset...
3.
Liu J, He Y, Lwin C, Han M, Guan B, Naik A, et al.
Brain
. 2024 May;
147(6):2085-2097.
PMID: 38735647
Biallelic pathogenic variants in the PNPLA6 gene cause a broad spectrum of disorders leading to gait disturbance, visual impairment, anterior hypopituitarism and hair anomalies. PNPLA6 encodes neuropathy target esterase (NTE),...
4.
Obara C, Nixon-Abell J, Moore A, Riccio F, Hoffman D, Shtengel G, et al.
Nature
. 2024 Jan;
626(7997):169-176.
PMID: 38267577
To coordinate cellular physiology, eukaryotic cells rely on the rapid exchange of molecules at specialized organelle-organelle contact sites. Endoplasmic reticulum-mitochondrial contact sites (ERMCSs) are particularly vital communication hubs, playing key...
5.
Goodheart A, Blackstone C
J Clin Invest
. 2024 Jan;
134(1).
PMID: 38165040
Early identification of neurodegenerative diseases before extensive neuronal loss or disabling symptoms have occurred is imperative for effective use of disease-modifying therapies. Emerging data indicate that central Lewy body diseases...
6.
Liu J, He Y, Lwin C, Han M, Guan B, Naik A, et al.
bioRxiv
. 2023 Jun;
PMID: 37333224
Biallelic pathogenic variants in the gene cause a broad spectrum of disorders leading to gait disturbance, visual impairment, anterior hypopituitarism, and hair anomalies. encodes Neuropathy target esterase (NTE), yet the...
7.
Mou Y, Nandi G, Mukte S, Chai E, Chen Z, Nielsen J, et al.
Orphanet J Rare Dis
. 2023 Apr;
18(1):72.
PMID: 37024986
Background: Biallelic mutations in CYP27A1 and CYP7B1, two critical genes regulating cholesterol and bile acid metabolism, cause cerebrotendinous xanthomatosis (CTX) and hereditary spastic paraplegia type 5 (SPG5), respectively. These rare...
8.
Saffari A, Kellner M, Jordan C, Rosengarten H, Mo A, Zhang B, et al.
Brain
. 2022 Oct;
146(5):2003-2015.
PMID: 36315648
In the field of hereditary spastic paraplegia (HSP), progress in molecular diagnostics needs to be translated into robust phenotyping studies to understand genetic and phenotypic heterogeneity and to support interventional...
9.
10.
Mo A, Saffari A, Kellner M, Dobler-Neumann M, Jordan C, Srivastava S, et al.
Mov Disord
. 2022 Sep;
37(12):2440-2446.
PMID: 36103453
Background: Familial hereditary spastic paraplegia (HSP)-SPAST (SPG4) typically presents with a pure HSP phenotype. Objective: The aim of this study was to delineate the genotypic and phenotypic spectrum of children...