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OpenAlex Citation Counts

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OpenAlex is a bibliographic catalogue of scientific papers, authors and institutions accessible in open access mode, named after the Library of Alexandria. It's citation coverage is excellent and I hope you will find utility in this listing of citing articles!

If you click the article title, you'll navigate to the article, as listed in CrossRef. If you click the Open Access links, you'll navigate to the "best Open Access location". Clicking the citation count will open this listing for that article. Lastly at the bottom of the page, you'll find basic pagination options.

Requested Article:

PNPLA6 mutations cause Boucher-Neuhäuser and Gordon Holmes syndromes as part of a broad neurodegenerative spectrum
Matthis Synofzik, Michael Gonzalez, Charles Marques Lourenço, et al.
Brain (2013) Vol. 137, Iss. 1, pp. 69-77
Open Access | Times Cited: 206

Showing 1-25 of 206 citing articles:

European Consensus Statement on congenital hypogonadotropic hypogonadism—pathogenesis, diagnosis and treatment
Ulrich Boehm, Pierre-Marc Bouloux, Mehul Dattani, et al.
Nature Reviews Endocrinology (2015) Vol. 11, Iss. 9, pp. 547-564
Open Access | Times Cited: 752
Hereditary spastic paraplegia: Clinical-genetic characteristics and evolving molecular mechanisms
Temistocle Lo Giudice, Federica Lombardi, Filippo M. Santorelli, et al.
Experimental Neurology (2014) Vol. 261, pp. 518-539
Open Access | Times Cited: 311
Drosophila as an In Vivo Model for Human Neurodegenerative Disease
Leeanne McGurk, Amit Berson, Nancy M. Bonini
Genetics (2015) Vol. 201, Iss. 2, pp. 377-402
Open Access | Times Cited: 301
Hereditary spastic paraplegia: Clinicogenetic lessons from 608 patients
Rebecca Schüle, Sarah Wiethoff, Peter Martus, et al.
Annals of Neurology (2016) Vol. 79, Iss. 4, pp. 646-658
Closed Access | Times Cited: 257
Hereditary Spastic Paraplegia: Clinical and Genetic Hallmarks
Paulo Victor Sgobbi de Souza, Wladimir Bocca Vieira de Rezende Pinto, Gabriel Novaes de Rezende Batistella, et al.
The Cerebellum (2016) Vol. 16, Iss. 2, pp. 525-551
Closed Access | Times Cited: 196
Genetics of Combined Pituitary Hormone Deficiency: Roadmap into the Genome Era
Qing Fang, Akima S George, Michelle L. Brinkmeier, et al.
Endocrine Reviews (2016) Vol. 37, Iss. 6, pp. 636-675
Open Access | Times Cited: 183
Nuclear morphologies: their diversity and functional relevance
Benjamin M. Skinner, Emma Elizabeth Philippa Johnson
Chromosoma (2016) Vol. 126, Iss. 2, pp. 195-212
Open Access | Times Cited: 169
Genetics of congenital hypogonadotropic hypogonadism: peculiarities and phenotype of an oligogenic disease
Biagio Cangiano, Du Soon Swee, Richard Quinton, et al.
Human Genetics (2020) Vol. 140, Iss. 1, pp. 77-111
Closed Access | Times Cited: 149
Calcium-independent phospholipases A2 and their roles in biological processes and diseases
Sasanka Ramanadham, Tomader Ali, Jason W. Ashley, et al.
Journal of Lipid Research (2015) Vol. 56, Iss. 9, pp. 1643-1668
Open Access | Times Cited: 176
Overcoming the divide between ataxias and spastic paraplegias: Shared phenotypes, genes, and pathways
Matthis Synofzik, Rebecca Schüle
Movement Disorders (2017) Vol. 32, Iss. 3, pp. 332-345
Open Access | Times Cited: 160
Clinical and genetic heterogeneity in hereditary spastic paraplegias: From SPG1 to SPG72 and still counting
Stephan Klebe, Giovanni Stévanin, Christel Depienne
Revue Neurologique (2015) Vol. 171, Iss. 6-7, pp. 505-530
Open Access | Times Cited: 155
Loss-of-function mutations in theATP13A2/PARK9 gene cause complicated hereditary spastic paraplegia (SPG78)
Alejandro Estrada‐Cuzcano, Shaun Martin, Teodora Chamova, et al.
Brain (2016) Vol. 140, Iss. 2, pp. 287-305
Open Access | Times Cited: 148
Delving into the complexity of hereditary spastic paraplegias: how unexpected phenotypes and inheritance modes are revolutionizing their nosology
Christelle Tesson, Jeanette Koht, Giovanni Stévanin
Human Genetics (2015) Vol. 134, Iss. 6, pp. 511-538
Open Access | Times Cited: 132
Innovative Genomic Collaboration Using the GENESIS (GEM.app) Platform
Michael Gonzalez, Marni J. Falk, Xiaowu Gai, et al.
Human Mutation (2015) Vol. 36, Iss. 10, pp. 950-956
Open Access | Times Cited: 109
Neuropathy target esterase impairments cause Oliver–McFarlane and Laurence–Moon syndromes
Robert B. Hufnagel, Gavin Arno, Nichole D. Hein, et al.
Journal of Medical Genetics (2014) Vol. 52, Iss. 2, pp. 85-94
Open Access | Times Cited: 107
The Classification of Autosomal Recessive Cerebellar Ataxias: a Consensus Statement from the Society for Research on the Cerebellum and Ataxias Task Force
Marie Beaudin, Antoni Matilla‐Dueñas, Bing-Weng Soong, et al.
The Cerebellum (2019) Vol. 18, Iss. 6, pp. 1098-1125
Open Access | Times Cited: 107
Update on the Genetics of Spastic Paraplegias
Maxime Boutry, Sara Morais, Giovanni Stévanin
Current Neurology and Neuroscience Reports (2019) Vol. 19, Iss. 4
Open Access | Times Cited: 104
Autosomal Recessive Cerebellar Ataxias: Paving the Way toward Targeted Molecular Therapies
Matthis Synofzik, Hélène Puccio, Fanny Mochel, et al.
Neuron (2019) Vol. 101, Iss. 4, pp. 560-583
Open Access | Times Cited: 102
Alteration of ornithine metabolism leads to dominant and recessive hereditary spastic paraplegia
Marie Coutelier, Cyril Goizet, Alexandra Dürr, et al.
Brain (2015) Vol. 138, Iss. 8, pp. 2191-2205
Open Access | Times Cited: 96
Recessive ataxias
Matthis Synofzik, Andrea H. Németh
Handbook of clinical neurology (2018), pp. 73-89
Closed Access | Times Cited: 86
Insights into Clinical, Genetic, and Pathological Aspects of Hereditary Spastic Paraplegias: A Comprehensive Overview
Liena E. O. Elsayed, Isra Eltazi, Ammar Ahmed, et al.
Frontiers in Molecular Biosciences (2021) Vol. 8
Open Access | Times Cited: 59
Loss-of-Function Mutations inPNPLA6Encoding Neuropathy Target Esterase Underlie Pubertal Failure and Neurological Deficits in Gordon Holmes Syndrome
A. Kemal Topaloğlu, Alejandro Lomniczi, Doris Kretzschmar, et al.
The Journal of Clinical Endocrinology & Metabolism (2014) Vol. 99, Iss. 10, pp. E2067-E2075
Open Access | Times Cited: 94
From yeast to humans – roles of the Kennedy pathway for phosphatidylcholine synthesis
Christopher R. McMaster
FEBS Letters (2017) Vol. 592, Iss. 8, pp. 1256-1272
Open Access | Times Cited: 87
The genetic nomenclature of recessive cerebellar ataxias
Malco Rossi, Mathieu Anheim, Alexandra Dürr, et al.
Movement Disorders (2018) Vol. 33, Iss. 7, pp. 1056-1076
Closed Access | Times Cited: 78
Genetic characterization and disease mechanism of retinitis pigmentosa; current scenario
Muhammad Ali, Muhammad Saif Ur Rahman, Jiang Cao, et al.
3 Biotech (2017) Vol. 7, Iss. 4
Open Access | Times Cited: 72
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