Expanding the repertoire of loss-of-function variants in HACE1 causing complex spastic paraplegia: literature review and recommendations on clinical management.
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| Title: | Expanding the repertoire of loss-of-function variants in HACE1 causing complex spastic paraplegia: literature review and recommendations on clinical management. |
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| Authors: | Yousaf H; Department of Biological and Biomedical Sciences, The Aga Khan University, Karachi, Pakistan., Ali S; Department of Biological and Biomedical Sciences, The Aga Khan University, Karachi, Pakistan., Moulvi AY; Ziauddin University, Karachi, Pakistan., Khalid LB; Department of Biological and Biomedical Sciences, The Aga Khan University, Karachi, Pakistan., Javed I; Department of Paediatric Neurology, Children Hospital and Institute of Child Health, Faisalabad, Pakistan., Ghumman RZ; Islam Medical College, Sialkot, Pakistan., Colson C; CHU Lille, Univ. Lille, Institut de Génétique médicale, ULR7364 RADEME, Lille, 59000, France., Ibrahim S; Department of Paediatrics and Child Health, The Aga Khan University, Karachi, Pakistan., Zia S; Department of Biological and Biomedical Sciences, The Aga Khan University, Karachi, Pakistan., Khan MM; Bolan Medical College, Quetta, Pakistan., Brunelle P; CHU Lille, Univ. Lille, Institut de Génétique médicale, ULR7364 RADEME, Lille, 59000, France., Trujillo-Quintero JP; Center for Genomic Medicine, Parc Taulí Hospital Universitari, Institut d'Investigació i Innovació Parc Taulí (I3PT-CERCA), Universitat Autònoma de Barcelona, Sabadell, Spain., Ruiz A; Center for Genomic Medicine, Parc Taulí Hospital Universitari, Institut d'Investigació i Innovació Parc Taulí (I3PT-CERCA), Universitat Autònoma de Barcelona, Sabadell, Spain., Kirmani S; Division of Women & Child Health, Aga Khan University, Karachi, Pakistan., Houlden H; Department of Neuromuscular Diseases, University College London, Queen Square, Institute of Neurology, London, UK., Toft M; Institute of Clinical Medicine, University of Oslo, Oslo, Norway.; Department of Neurology, Oslo University Hospital, Oslo, Norway., Fatima A; Department of Biological and Biomedical Sciences, The Aga Khan University, Karachi, Pakistan. ambrin.fatima@aku.edu.; Centre for Regenerative Medicine and Stem Cells Research, The Aga Khan University, Karachi, Pakistan. ambrin.fatima@aku.edu., Iqbal Z; Department of Neurology, Oslo University Hospital, Oslo, Norway. zafar.iqbal@ous-research.no. |
| Source: | Human genomics [Hum Genomics] 2026 Feb 11; Vol. 20 (1). Date of Electronic Publication: 2026 Feb 11. |
| Publication Type: | Journal Article; Review |
| Journal Info: | Publisher: BioMed Central Country of Publication: England NLM ID: 101202210 Publication Model: Electronic Cited Medium: Internet ISSN: 1479-7364 (Electronic) Linking ISSN: 14739542 NLM ISO Abbreviation: Hum Genomics Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
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