ArticleScience (New York, N.Y.)2014
Exome sequencing links corticospinal motor neuron disease to common neurodegenerative disorders.
Abstract read
In one paragraph
Article in Science (New York, N.Y.), 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 300 papers, 2 of them syntheses that pooled it.
0numbers the graph read from it
0cells of the map it votes in
300citing papers in PubMed, 2 pooled it
–field-weighted citation impact
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
300 citing papers in PubMed, 2 syntheses or guidelines pooled it.
- Common genetic risk variants identified in the SPARK cohort support DDHD2 as a candidate risk gene for autism.Translational psychiatry · 2020Pooled it
- Pooled it
- Expanding the genotypic and phenotypic spectrum of PGAP1 deficiency: clinical and functional insights from 15 patients.European journal of human genetics : EJHG · 2026Article
- Deciphering AMP deaminase-2 structure, activators and regulators underpinning cellular function in human fructose and nucleotide metabolism.bioRxiv : the preprint server for biology · 2026Article
- Neuroinflammation-induced downregulation of RAB7 in murine astrocytes disrupts endo-lysosomal homeostasis and induces astrogliosis.Cell communication and signaling : CCS · 2026Article
- Dysregulation of CD39/Ectonucleoside Triphosphate Diphosphohydrolase 1 Causes Urinary Bladder Dysfunction with Abnormal Smooth Muscle Contractility.FASEB journal : official publication of the Federation of American Societies for Experimental Biology · 2026Article
- Multi-Omics Characterization of a KIF1C Structural Variant in a Patient with a Complex Movement Disorder Partially Responsive to Deep Brain Stimulation.Cerebellum (London, England) · 2026Article
- Dorsolateral Cervical Cord T2 Hyperintensity in KIF1C-Related Disease (Spastic Paraplegia 58): Two Long-Duration Cases.Annals of clinical and translational neurology · 2026Article
- Branched Chain Amino Acid Metabolism in Developmental Brain Injury: Putative Mechanisms and Therapeutic Potential.Developmental neuroscience · 2026Review
- Genetic and clinical characterization of SPG10: a case series of novel pathogenic variants and phenotypic diversity.Annals of medicine and surgery (2012) · 2025Article
- A Novel HomozygousNeurology. Genetics · 2025Article
- LXR agonist rescues synaptic dysfunction and degeneration in SPG3A patient-specific iPSC-derived neurons.Acta neuropathologica communications · 2025Article
- Structures of human organellar SPFH protein complexes.Nature communications · 2025Article
- DDHD2 provides a flux of saturated fatty acids for neuronal energy and function.Nature metabolism · 2025Article
- KIF1C-related disorders: spastic ataxia or hypomyelinating leukodystrophy? A paradigm of classification ambiguity.Neurogenetics · 2025Article
- When ganglioside pathways go awry: congenital disorders and experimental insights.Journal of human genetics · 2025Review
- Triglycerides are an important fuel reserve for synapse function in the brain.Nature metabolism · 2025Article
- Pathway Analyses of Inherited Neuropathies Identify Putative Common Mechanisms of Axon Degeneration.Annals of clinical and translational neurology · 2025Article
- Burden of pathogenetic and likely pathogenetic variants in SPG7, SPG11 and AP4 genes in Amyotrophic Lateral Sclerosis. A case-control study.Journal of neurology · 2025Article
- Essential Biology of Lipid Droplets.Annual review of biochemistry · 2025Review
240 more citing papers are in PubMed but not listed here.
Corrections and comments
- Commented on by
- Commented on by
- Commented on by
Authors and funding
52 authors.
Gaia Novarino *Howard Hughes Medical Institute, University of California, San Diego, La Jolla, CA 92093, USA.
Ali G Fenstermaker *Howard Hughes Medical Institute, University of California, San Diego, La Jolla, CA 92093, USA.
Maha S Zaki *Clinical Genetics Department, Human Genetics and Genome Research Division, National Research Center, Cairo 12311, Egypt.
Matan HofreeDepartment of Computer Science and Engineering and Department of Medicine, University of California, San Diego, La Jolla, CA 92093, USA.
Jennifer L SilhavyHoward Hughes Medical Institute, University of California, San Diego, La Jolla, CA 92093, USA.
Andrew D HeibergHoward Hughes Medical Institute, University of California, San Diego, La Jolla, CA 92093, USA.
Mostafa AbdellateefHoward Hughes Medical Institute, University of California, San Diego, La Jolla, CA 92093, USA.
Basak RostiHoward Hughes Medical Institute, University of California, San Diego, La Jolla, CA 92093, USA.
Eric ScottHoward Hughes Medical Institute, University of California, San Diego, La Jolla, CA 92093, USA.
Lobna MansourDepartment of Pediatric Neurology, Neurometabolic Unit, Cairo University Children's Hospital, Cairo 406, Egypt.
Amira MasriDivision of Child Neurology, Department of Pediatrics, University of Jordan, Amman 11942, Jordan.
Hulya KayseriliIstanbul University, Istanbul Medical Faculty, Medical Genetics Department, 34093 Istanbul, Turkey.
Jumana Y Al-AamaDepartment of Genetic Medicine, King Abdulaziz University, Jeddah, Kingdom of Saudi Arabia.
Ghada M H Abdel-SalamClinical Genetics Department, Human Genetics and Genome Research Division, National Research Center, Cairo 12311, Egypt.
Ariana KarminejadKariminejad-Najmabadi Pathology and Genetics Center, Tehran, Iran.
Majdi KaraDepartment of Pediatrics, Tripoli Children's Hospital, Tripoli, Libya.
Bulent KaraKocaeli University, Medical Faculty, Department of Pediatric Neurology, 41380 Umuttepe, Kocaeli, Turkey.
Bita BozorgmehriKariminejad-Najmabadi Pathology and Genetics Center, Tehran, Iran.
Tawfeg Ben-OmranClinical and Metabolic Genetics Division, Department of Pediatrics, Hamad Medical Corporation, Doha 3050, Qatar.
Faezeh MojahediMashhad Medical Genetic Counseling Center, 91767 Mashhad, Iran.
Iman Gamal El Din MahmoudDepartment of Pediatric Neurology, Neurometabolic Unit, Cairo University Children's Hospital, Cairo 406, Egypt.
Naima BouslamUniversité Mohammed V Souissi, Equipe de Recherchéde Maladies Neurodégéneratives (ERMN) and Centre de Recherche en Épidémiologie Clinique et Essais Thérapeutiques (CRECET), 6402 Rabat, Morocco.
Ahmed BouhoucheUniversité Mohammed V Souissi, Equipe de Recherchéde Maladies Neurodégéneratives (ERMN) and Centre de Recherche en Épidémiologie Clinique et Essais Thérapeutiques (CRECET), 6402 Rabat, Morocco.
Ali BenomarUniversité Mohammed V Souissi, Equipe de Recherchéde Maladies Neurodégéneratives (ERMN) and Centre de Recherche en Épidémiologie Clinique et Essais Thérapeutiques (CRECET), 6402 Rabat, Morocco.
Sylvain HaneinCentre de Recherche de l'Institut du Cerveau et de la Moelle épinière, INSERM U1127, CNRS UMR7225; UPMC Univ Paris VI UMR_S975, 75013 Paris, France.
Laure RaymondCentre de Recherche de l'Institut du Cerveau et de la Moelle épinière, INSERM U1127, CNRS UMR7225; UPMC Univ Paris VI UMR_S975, 75013 Paris, France.
Sylvie ForlaniCentre de Recherche de l'Institut du Cerveau et de la Moelle épinière, INSERM U1127, CNRS UMR7225; UPMC Univ Paris VI UMR_S975, 75013 Paris, France.
Massimo MascaroHoward Hughes Medical Institute, University of California, San Diego, La Jolla, CA 92093, USA.
Laila SelimDepartment of Pediatric Neurology, Neurometabolic Unit, Cairo University Children's Hospital, Cairo 406, Egypt.
Nabil ShehataDepartment of Pediatrics and Neonatology, Saudi German Hospital, Post Office Box 84348, Riyadh, Kingdom of Saudi Arabia.
Nasir Al-AllawiDepartment of Pathology, School of Medicine, University of Dohuk, Dohuk, Iraq.
P S BinduDepartment of Neurology, National Institute of Mental Health and Neurosciences, Bangalore, India.
Matloob AzamDepartment of Pediatrics and Child Neurology, Wah Medical College, Wah Cantt, Pakistan.
Murat GunelDepartment of Genetics and Neurosurgery, Yale University School of Medicine, New Haven, CT 06510, USA.
Ahmet CaglayanDepartment of Genetics and Neurosurgery, Yale University School of Medicine, New Haven, CT 06510, USA.
Kaya BilguvarDepartment of Genetics and Neurosurgery, Yale University School of Medicine, New Haven, CT 06510, USA.
Aslihan TolunDepartment of Molecular Biology and Genetics, Bogazici University, 34342 Istanbul, Turkey.
Mahmoud Y IssaClinical Genetics Department, Human Genetics and Genome Research Division, National Research Center, Cairo 12311, Egypt.
Jana SchrothHoward Hughes Medical Institute, University of California, San Diego, La Jolla, CA 92093, USA.
Emily G SpencerHoward Hughes Medical Institute, University of California, San Diego, La Jolla, CA 92093, USA.
Rasim O RostiHoward Hughes Medical Institute, University of California, San Diego, La Jolla, CA 92093, USA.
Naiara AkizuHoward Hughes Medical Institute, University of California, San Diego, La Jolla, CA 92093, USA.
Keith K VauxHoward Hughes Medical Institute, University of California, San Diego, La Jolla, CA 92093, USA.
Anide JohansenHoward Hughes Medical Institute, University of California, San Diego, La Jolla, CA 92093, USA.
Alice A KohHoward Hughes Medical Institute, University of California, San Diego, La Jolla, CA 92093, USA.
Hisham MegahedClinical Genetics Department, Human Genetics and Genome Research Division, National Research Center, Cairo 12311, Egypt.
Alexandra DurrCentre de Recherche de l'Institut du Cerveau et de la Moelle épinière, INSERM U1127, CNRS UMR7225; UPMC Univ Paris VI UMR_S975, 75013 Paris, France.
Alexis BriceCentre de Recherche de l'Institut du Cerveau et de la Moelle épinière, INSERM U1127, CNRS UMR7225; UPMC Univ Paris VI UMR_S975, 75013 Paris, France.
Giovanni StevaninCentre de Recherche de l'Institut du Cerveau et de la Moelle épinière, INSERM U1127, CNRS UMR7225; UPMC Univ Paris VI UMR_S975, 75013 Paris, France.
Stacy B GabrielBroad Institute of Harvard and Massachusetts Institute of Technology, Cambridge, MA 02142, USA.
Trey IdekerDepartment of Computer Science and Engineering and Department of Medicine, University of California, San Diego, La Jolla, CA 92093, USA.
Joseph G GleesonHoward Hughes Medical Institute, University of California, San Diego, La Jolla, CA 92093, USA.
Funding
Large Scale Sequencing and Analysis of GenomesU54HG003067 · NHGRI · MASSACHUSETTS INSTITUTE OF TECHNOLOGY · PI GABRIEL, STACEY, LANDER, ERIC S · 2004 to 2015
$568.6MTR&D 3 - Network Guided Machine LearningP41GM103504 · NIGMS · UNIVERSITY OF CALIFORNIA, SAN DIEGO · PI IDEKER, TREY · 2012 to 2024
$17.3MYale Center for Mendelian DisordersU54HG006504 · NHGRI · YALE UNIVERSITY · PI GERSTEIN, MARK BENDER, GUNEL, MURAT · 2012 to 2015
$11.0MU of Calif, San Diego Neuroscience Microscopy ImagingP30NS047101 · NINDS · UNIVERSITY OF CALIFORNIA, SAN DIEGO · PI GLEESON, JOSEPH G, ZHENG, BINHAI · 2003 to 2022
$9.0MProject 3. Genetic Models of Human Structural Brain Defects in ZebrafishP01HD070494 · NICHD · UNIVERSITY OF CALIFORNIA, SAN DIEGO · PI GLEESON, JOSEPH G · 2011 to 2016
$6.7MMolecular Characterization of Joubert SyndromeR01NS048453 · NINDS · UNIVERSITY OF CALIFORNIA, SAN DIEGO · PI GLEESON, JOSEPH G · 2004 to 2020
$6.0MDoublecortin In Neuronal MigrationR01NS041537 · NINDS · UNIVERSITY OF CALIFORNIA, SAN DIEGO · PI GLEESON, JOSEPH G · 2002 to 2014
$3.9MJouberin and Nephrocystin in Joubert SyndromeR01NS052455 · NINDS · UNIVERSITY OF CALIFORNIA, SAN DIEGO · PI GLEESON, JOSEPH G · 2007 to 2015
$3.0MHoward Hughes Medical InstituteNCI NIH HHS N01 CO012400NCI NIH HHS N01-CO-12400NHGRI NIH HHS U54 HG003067NHGRI NIH HHS U54HG003067NHGRI NIH HHS U54 HG006504NHGRI NIH HHS U54HG006504NICHD NIH HHS P01 HD070494NICHD NIH HHS P01HD070494NIGMS NIH HHS P41 GM103504NINDS NIH HHS P30 NS047101NINDS NIH HHS P30NS047101NINDS NIH HHS R01 NS041537NINDS NIH HHS R01NS041537NINDS NIH HHS R01 NS048453NINDS NIH HHS R01NS048453NINDS NIH HHS R01 NS052455NINDS NIH HHS R01NS052455PHS HHS HHSN268201100011
Abstract
Hereditary spastic paraplegias (HSPs) are neurodegenerative motor neuron diseases characterized by progressive age-dependent loss of corticospinal motor tract function. Although the genetic basis is partly understood, only a fraction of cases can receive a genetic diagnosis, and a global view of HSP is lacking. By using whole-exome sequencing in combination with network analysis, we identified 18 previously unknown putative HSP genes and validated nearly all of these genes functionally or genetically. The pathways highlighted by these mutations link HSP to cellular transport, nucleotide metabolism, and synapse and axon development. Network analysis revealed a host of further candidate genes, of which three were mutated in our cohort. Our analysis links HSP to other neurodegenerative disorders and can facilitate gene discovery and mechanistic understanding of disease.
Indexed as
Genetic Association StudiesAnimalsAxonsBiological TransportCohort StudiesExomeGene Regulatory NetworksHumansMotor Neuron DiseaseMutationNeuronsNucleotidesPyramidal TractsSequence Analysis, DNASpastic Paraplegia, HereditarySynapsesNucleotides
Identifiers
What OpenQuestion holds
Textmetadata
LicenceTDM
Read underepoch 390
Registered trials
None linked
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.