ArticleBrain : a journal of neurology2016
ALDH18A1 gene mutations cause dominant spastic paraplegia SPG9: loss of function effect and plausibility of a dominant negative mechanism.
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Article in Brain : a journal of neurology, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 23 papers.
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23citing papers in PubMed
3.5field-weighted citation impact, top 8% of its field
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Who cites it
23 citing papers in PubMed, 61 citations in OpenAlex.
- Novel mutations in the ALDH18A1 gene in complicated hereditary spastic paraplegia with cerebellar ataxia and cognitive impairment.Journal of human genetics · 2018Trial
- Genetic variants among patients with motor neuron disease in Lithuania - a retrospective single-center study.Neurogenetics · 2026Article
- Genetic landscape of hereditary spastic paraplegias in the Korean population.Scientific reports · 2026Article
- Identification of an additional deep intronic splice variant prompts critical evaluation of SPG7 inheritance.Neurogenetics · 2026Article
- Biomarkers in Hereditary Spastic Paraplegias.International journal of molecular sciences · 2025Review
- Dynamic Arabidopsis P5CS filament facilitates substrate channelling.Nature plants · 2024Article
- Functional assessment of homozygous ALDH18A1 variants reveals alterations in amino acid and antioxidant metabolism.Human molecular genetics · 2023Article
- Inherited metabolic diseases mimicking hereditary spastic paraplegia (HSP): a chance for treatment.Neurogenetics · 2022Review
- Genetic analysis of Pycr1 and Pycr2 in mice.Genetics · 2021Article
- Importance of lipids for upper motor neuron health and disease.Seminars in cell & developmental biology · 2021Review
- SPG9A with the new occurrence of an ALDH18A1 mutation in a CMT1A family with PMP22 duplication: case report.BMC neurology · 2021Article
- Novel Compound Missense and Intronic Splicing Mutation inFrontiers in neurology · 2021Article
- The Multifaceted Roles of Proline in Cell Behavior.Frontiers in cell and developmental biology · 2021Review
- Autosomal dominant SPG9: intrafamilial variability and onset during pregnancy.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2020Article
- Inborn errors of enzymes in glutamate metabolism.Journal of inherited metabolic disease · 2020Review
- P5CS expression study in a new family with ALDH18A1-associated hereditary spastic paraplegia SPG9.Annals of clinical and translational neurology · 2019Article
- Identification of cancer-type specific expression patterns for active aldehyde dehydrogenase (ALDH) isoforms in ALDEFLUOR assay.Cell biology and toxicology · 2019Article
- Hereditary Spastic Paraplegia Is a Common Phenotypic Finding in ARG1 Deficiency, P5CS Deficiency and HHH Syndrome: Three Inborn Errors of Metabolism Caused by Alteration of an Interconnected Pathway of Glutamate and Urea Cycle Metabolism.Frontiers in neurology · 2019Review
- Clinical features and genetic spectrum in Chinese patients with recessive hereditary spastic paraplegia.Translational neurodegeneration · 2019Article
- Compound heterozygous mutations in two different domains of ALDH18A1 do not affect the amino acid levels in a patient with hereditary spastic paraplegia.Neurogenetics · 2018Article
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Authors and funding
19 authors at 14 institutions in 4 countries.
Emanuele Panza1 Department of Human Genetics, University of Utah, Salt Lake City 84112, Utah, USA 2 Department of Medical and Surgical Science, University of Bologna, Bologna 40138, Italy emanuele.panza@genetics.utah.edu.
Juan M Escamilla-Honrubia3 Instituto de Biomedicina de Valencia of the CSIC, Valencia 46010, Spain.
Clara Marco-Marín3 Instituto de Biomedicina de Valencia of the CSIC, Valencia 46010, Spain 4 Group 739, Centro para Investigación Biomédica en Red sobre Enfermedades Raras CIBERER-ISCIII, Valencia, Spain.
Nadine Gougeard3 Instituto de Biomedicina de Valencia of the CSIC, Valencia 46010, Spain 4 Group 739, Centro para Investigación Biomédica en Red sobre Enfermedades Raras CIBERER-ISCIII, Valencia, Spain.
Giuseppe De Michele5 Department of Neurosciences and Reproductive and Odontostomatologic Sciences, University Federico II, Naples 80138, Italy.
Vincenzo Brescia Morra5 Department of Neurosciences and Reproductive and Odontostomatologic Sciences, University Federico II, Naples 80138, Italy.
Rocco Liguori6 IRCCS Istituto delle Scienze Neurologiche di Bologna 40139, Italy 7 Department of Biomedical and NeuroMotor Sciences, University of Bologna 40139, Italy.
Leonardo Salviati8 Clinical Genetics Unit, Department of Woman and Child Health, University of Padova 35128, Italy 9 IRP Città della Speranza, Padova 35129, Italy.
Maria Alice Donati10 A. Meyer Institute, Firenze 50139, Italy.
Roberto Cusano11 Istituto di Ricerca Genetica e Biomedica (IRGB), CNR, Cagliari 09042, Italy 12 CRS4, Parco Tecnologico della Sardegna, Cagliari 09010, Italy.
Tommaso Pippucci2 Department of Medical and Surgical Science, University of Bologna, Bologna 40138, Italy.
Roberto Ravazzolo13 Medical Genetics Unit, G. Gaslini Institute, Genova 16147, Italy 14 University of Genova, DINOGMI Department, Genova 16147, Italy.
Andrea H Németh15 Nuffield Department of Clinical Neurosciences, University of Oxford, Oxford OX3 9DU, UK 16 Department of Clinical Genetics, Churchill Hospital, Oxford University Hospitals NHS Trust, Oxford, UK.
Sarah Smithson17 Department of Clinical Genetics, St Michael's Hospital Bristol BS8 4LL, UK.
Sally Davies18 Institute of Medical Genetics, University Hospital of Wales, Cardiff, UK.
Jane A Hurst19 Department of Clinical Genetics, Great Ormond Street Hospital, London, UK.
Domenico Bordo20 IRCCS AOU San Martino - IST. Istituto Nazionale per la Ricerca sul Cancro, Genova 16132, Italy.
Vicente Rubio3 Instituto de Biomedicina de Valencia of the CSIC, Valencia 46010, Spain 4 Group 739, Centro para Investigación Biomédica en Red sobre Enfermedades Raras CIBERER-ISCIII, Valencia, Spain.
Marco Seri2 Department of Medical and Surgical Science, University of Bologna, Bologna 40138, Italy.
University of Bologna · ITFederico II University Hospital · ITInstituto de Salud Carlos III · ESCentro de Investigación Biomédica en Red · ESChurchill Hospital · GBCittà della Speranza Foundation · ITGreat Ormond Street Hospital · GBInstitute of Genetic and Biomedical Research · ITInstituto de Biomedicina de Valencia · ESMeyer Children's Hospital · ITOspedale Policlinico San Martino · ITSt Michael's Hospital · GBUniversity Hospital of Wales · GBUniversity of Genoa · IT
Funding
Telethon GGP10121
Abstract
PubMed holds no abstract for this paper.
Indexed as
Aldehyde DehydrogenaseFemaleHumansMaleMutationOrnithineSpastic Paraplegia, HereditaryAldehyde DehydrogenaseOrnithine
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What OpenQuestion holds
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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.