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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.
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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  Data: <searchLink fieldCode="AU" term="%22Yousaf+H%22">Yousaf H</searchLink>; Department of Biological and Biomedical Sciences, The Aga Khan University, Karachi, Pakistan.<br /><searchLink fieldCode="AU" term="%22Ali+S%22">Ali S</searchLink>; Department of Biological and Biomedical Sciences, The Aga Khan University, Karachi, Pakistan.<br /><searchLink fieldCode="AU" term="%22Moulvi+AY%22">Moulvi AY</searchLink>; Ziauddin University, Karachi, Pakistan.<br /><searchLink fieldCode="AU" term="%22Khalid+LB%22">Khalid LB</searchLink>; Department of Biological and Biomedical Sciences, The Aga Khan University, Karachi, Pakistan.<br /><searchLink fieldCode="AU" term="%22Javed+I%22">Javed I</searchLink>; Department of Paediatric Neurology, Children Hospital and Institute of Child Health, Faisalabad, Pakistan.<br /><searchLink fieldCode="AU" term="%22Ghumman+RZ%22">Ghumman RZ</searchLink>; Islam Medical College, Sialkot, Pakistan.<br /><searchLink fieldCode="AU" term="%22Colson+C%22">Colson C</searchLink>; CHU Lille, Univ. Lille, Institut de Génétique médicale, ULR7364 RADEME, Lille, 59000, France.<br /><searchLink fieldCode="AU" term="%22Ibrahim+S%22">Ibrahim S</searchLink>; Department of Paediatrics and Child Health, The Aga Khan University, Karachi, Pakistan.<br /><searchLink fieldCode="AU" term="%22Zia+S%22">Zia S</searchLink>; Department of Biological and Biomedical Sciences, The Aga Khan University, Karachi, Pakistan.<br /><searchLink fieldCode="AU" term="%22Khan+MM%22">Khan MM</searchLink>; Bolan Medical College, Quetta, Pakistan.<br /><searchLink fieldCode="AU" term="%22Brunelle+P%22">Brunelle P</searchLink>; CHU Lille, Univ. Lille, Institut de Génétique médicale, ULR7364 RADEME, Lille, 59000, France.<br /><searchLink fieldCode="AU" term="%22Trujillo-Quintero+JP%22">Trujillo-Quintero JP</searchLink>; Center for Genomic Medicine, Parc Taulí Hospital Universitari, Institut d'Investigació i Innovació Parc Taulí (I3PT-CERCA), Universitat Autònoma de Barcelona, Sabadell, Spain.<br /><searchLink fieldCode="AU" term="%22Ruiz+A%22">Ruiz A</searchLink>; Center for Genomic Medicine, Parc Taulí Hospital Universitari, Institut d'Investigació i Innovació Parc Taulí (I3PT-CERCA), Universitat Autònoma de Barcelona, Sabadell, Spain.<br /><searchLink fieldCode="AU" term="%22Kirmani+S%22">Kirmani S</searchLink>; Division of Women & Child Health, Aga Khan University, Karachi, Pakistan.<br /><searchLink fieldCode="AU" term="%22Houlden+H%22">Houlden H</searchLink>; Department of Neuromuscular Diseases, University College London, Queen Square, Institute of Neurology, London, UK.<br /><searchLink fieldCode="AU" term="%22Toft+M%22">Toft M</searchLink>; Institute of Clinical Medicine, University of Oslo, Oslo, Norway.; Department of Neurology, Oslo University Hospital, Oslo, Norway.<br /><searchLink fieldCode="AU" term="%22Fatima+A%22">Fatima A</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Iqbal+Z%22">Iqbal Z</searchLink>; Department of Neurology, Oslo University Hospital, Oslo, Norway. zafar.iqbal@ous-research.no.
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  Data: <searchLink fieldCode="JN" term="%22101202210%22">Human genomics</searchLink> [Hum Genomics] 2026 Feb 11; Vol. 20 (1). <i>Date of Electronic Publication: </i>2026 Feb 11.
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