Novel Genetic, Clinical, and Pathomechanistic Insights into TFG-Associated Hereditary Spastic Paraplegia.

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Title: Novel Genetic, Clinical, and Pathomechanistic Insights into TFG-Associated Hereditary Spastic Paraplegia.
Authors: Harlalka GV; University of Exeter Medical School, RILD Wellcome Wolfson Centre, Royal Devon & Exeter NHS Foundation Trust, Barrack Road, Exeter, UK., McEntagart ME; Medical Genetics Unit, Floor 0, Jenner Wing, St. George's University of London, Cranmer Terrace, London, UK., Gupta N; Division of Genetics, Department of Pediatrics, Old O.T. Block, All India Institute of Medical Sciences, New Delhi, India., Skrzypiec AE; Laboratory of Neuronal Plasticity and Behaviour, University of Exeter Medical School, University of Exeter, Exeter, UK., Mucha MW; Laboratory of Neuronal Plasticity and Behaviour, University of Exeter Medical School, University of Exeter, Exeter, UK., Chioza BA; University of Exeter Medical School, RILD Wellcome Wolfson Centre, Royal Devon & Exeter NHS Foundation Trust, Barrack Road, Exeter, UK., Simpson MA; Division of Genetics and Molecular Medicine, King's College London School of Medicine, Guy's Hospital, London, UK., Sreekantan-Nair A; University of Exeter Medical School, RILD Wellcome Wolfson Centre, Royal Devon & Exeter NHS Foundation Trust, Barrack Road, Exeter, UK., Pereira A; Department of Neurology, Atkinson Morley Wing, St. George's Hospital, Tooting, London, UK., Günther S; Department of Clinical Chemistry and Laboratory Medicine, Jena University Hospital, Jena, Germany., Jahic A; Department of Clinical Chemistry and Laboratory Medicine, Jena University Hospital, Jena, Germany., Modarres H; Department of Neurology, Atkinson Morley Wing, St. George's Hospital, Tooting, London, UK., Moore-Barton H; Medical Genetics Unit, Floor 0, Jenner Wing, St. George's University of London, Cranmer Terrace, London, UK., Trembath RC; Division of Genetics and Molecular Medicine, King's College London School of Medicine, Guy's Hospital, London, UK., Kabra M; Division of Genetics, Department of Pediatrics, Old O.T. Block, All India Institute of Medical Sciences, New Delhi, India., Baple EL; University of Exeter Medical School, RILD Wellcome Wolfson Centre, Royal Devon & Exeter NHS Foundation Trust, Barrack Road, Exeter, UK., Thakur S; Department of Genetics and Fetal Medicine, Fortis La femme, S-549, New Delhi, India., Patton MA; Medical Genetics Unit, Floor 0, Jenner Wing, St. George's University of London, Cranmer Terrace, London, UK., Beetz C; Department of Clinical Chemistry and Laboratory Medicine, Jena University Hospital, Jena, Germany. christian.beetz@med.uni.jena.de., Pawlak R; Laboratory of Neuronal Plasticity and Behaviour, University of Exeter Medical School, University of Exeter, Exeter, UK., Crosby AH; University of Exeter Medical School, RILD Wellcome Wolfson Centre, Royal Devon & Exeter NHS Foundation Trust, Barrack Road, Exeter, UK.
Source: Human mutation [Hum Mutat] 2016 Nov; Vol. 37 (11), pp. 1157-1161. Date of Electronic Publication: 2016 Aug 30.
Publication Type: Journal Article; Research Support, Non-U.S. Gov't
Journal Info: Publisher: Wiley-Liss Country of Publication: United States NLM ID: 9215429 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1098-1004 (Electronic) Linking ISSN: 10597794 NLM ISO Abbreviation: Hum Mutat Subsets: MEDLINE
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  Data: Novel Genetic, Clinical, and Pathomechanistic Insights into TFG-Associated Hereditary Spastic Paraplegia.
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  Data: <searchLink fieldCode="AU" term="%22Harlalka+GV%22">Harlalka GV</searchLink>; University of Exeter Medical School, RILD Wellcome Wolfson Centre, Royal Devon & Exeter NHS Foundation Trust, Barrack Road, Exeter, UK.<br /><searchLink fieldCode="AU" term="%22McEntagart+ME%22">McEntagart ME</searchLink>; Medical Genetics Unit, Floor 0, Jenner Wing, St. George's University of London, Cranmer Terrace, London, UK.<br /><searchLink fieldCode="AU" term="%22Gupta+N%22">Gupta N</searchLink>; Division of Genetics, Department of Pediatrics, Old O.T. Block, All India Institute of Medical Sciences, New Delhi, India.<br /><searchLink fieldCode="AU" term="%22Skrzypiec+AE%22">Skrzypiec AE</searchLink>; Laboratory of Neuronal Plasticity and Behaviour, University of Exeter Medical School, University of Exeter, Exeter, UK.<br /><searchLink fieldCode="AU" term="%22Mucha+MW%22">Mucha MW</searchLink>; Laboratory of Neuronal Plasticity and Behaviour, University of Exeter Medical School, University of Exeter, Exeter, UK.<br /><searchLink fieldCode="AU" term="%22Chioza+BA%22">Chioza BA</searchLink>; University of Exeter Medical School, RILD Wellcome Wolfson Centre, Royal Devon & Exeter NHS Foundation Trust, Barrack Road, Exeter, UK.<br /><searchLink fieldCode="AU" term="%22Simpson+MA%22">Simpson MA</searchLink>; Division of Genetics and Molecular Medicine, King's College London School of Medicine, Guy's Hospital, London, UK.<br /><searchLink fieldCode="AU" term="%22Sreekantan-Nair+A%22">Sreekantan-Nair A</searchLink>; University of Exeter Medical School, RILD Wellcome Wolfson Centre, Royal Devon & Exeter NHS Foundation Trust, Barrack Road, Exeter, UK.<br /><searchLink fieldCode="AU" term="%22Pereira+A%22">Pereira A</searchLink>; Department of Neurology, Atkinson Morley Wing, St. George's Hospital, Tooting, London, UK.<br /><searchLink fieldCode="AU" term="%22Günther+S%22">Günther S</searchLink>; Department of Clinical Chemistry and Laboratory Medicine, Jena University Hospital, Jena, Germany.<br /><searchLink fieldCode="AU" term="%22Jahic+A%22">Jahic A</searchLink>; Department of Clinical Chemistry and Laboratory Medicine, Jena University Hospital, Jena, Germany.<br /><searchLink fieldCode="AU" term="%22Modarres+H%22">Modarres H</searchLink>; Department of Neurology, Atkinson Morley Wing, St. George's Hospital, Tooting, London, UK.<br /><searchLink fieldCode="AU" term="%22Moore-Barton+H%22">Moore-Barton H</searchLink>; Medical Genetics Unit, Floor 0, Jenner Wing, St. George's University of London, Cranmer Terrace, London, UK.<br /><searchLink fieldCode="AU" term="%22Trembath+RC%22">Trembath RC</searchLink>; Division of Genetics and Molecular Medicine, King's College London School of Medicine, Guy's Hospital, London, UK.<br /><searchLink fieldCode="AU" term="%22Kabra+M%22">Kabra M</searchLink>; Division of Genetics, Department of Pediatrics, Old O.T. Block, All India Institute of Medical Sciences, New Delhi, India.<br /><searchLink fieldCode="AU" term="%22Baple+EL%22">Baple EL</searchLink>; University of Exeter Medical School, RILD Wellcome Wolfson Centre, Royal Devon & Exeter NHS Foundation Trust, Barrack Road, Exeter, UK.<br /><searchLink fieldCode="AU" term="%22Thakur+S%22">Thakur S</searchLink>; Department of Genetics and Fetal Medicine, Fortis La femme, S-549, New Delhi, India.<br /><searchLink fieldCode="AU" term="%22Patton+MA%22">Patton MA</searchLink>; Medical Genetics Unit, Floor 0, Jenner Wing, St. George's University of London, Cranmer Terrace, London, UK.<br /><searchLink fieldCode="AU" term="%22Beetz+C%22">Beetz C</searchLink>; Department of Clinical Chemistry and Laboratory Medicine, Jena University Hospital, Jena, Germany. christian.beetz@med.uni.jena.de.<br /><searchLink fieldCode="AU" term="%22Pawlak+R%22">Pawlak R</searchLink>; Laboratory of Neuronal Plasticity and Behaviour, University of Exeter Medical School, University of Exeter, Exeter, UK.<br /><searchLink fieldCode="AU" term="%22Crosby+AH%22">Crosby AH</searchLink>; University of Exeter Medical School, RILD Wellcome Wolfson Centre, Royal Devon & Exeter NHS Foundation Trust, Barrack Road, Exeter, UK.
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  Data: <searchLink fieldCode="JN" term="%229215429%22">Human mutation</searchLink> [Hum Mutat] 2016 Nov; Vol. 37 (11), pp. 1157-1161. <i>Date of Electronic Publication: </i>2016 Aug 30.
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  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Wiley-Liss%22">Wiley-Liss </searchLink><i>Country of Publication: </i>United States <i>NLM ID: </i>9215429 <i>Publication Model: </i>Print-Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1098-1004 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2210597794%22">10597794 </searchLink><i>NLM ISO Abbreviation: </i>Hum Mutat <i>Subsets: </i>MEDLINE
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