المؤلفون: Decraene B; Experimental Neurosurgery and Neuroanatomy, Department of Neurosciences, University of Leuven, Leuven, Belgium; Department of Neurosurgery, University Hospitals Leuven, Leuven, Belgium. Electronic address: brecht.decraene@uzleuven.be., Smeets S; Department of Neurosurgery, University Hospitals Leuven, Leuven, Belgium., Remans D; Experimental Neurosurgery and Neuroanatomy, Department of Neurosciences, University of Leuven, Leuven, Belgium., Ortibus E; Department of Development and Regeneration, University of Leuven, Leuven, Belgium; Child Youth Institute, Leuven, Belgium., Vandenberghe W; Department of Neurology, University Hospitals Leuven, Leuven, Belgium; Laboratory for Parkinson Research, Department of Neurosciences, University of Leuven, Leuven, Belgium., Nuttin B; Experimental Neurosurgery and Neuroanatomy, Department of Neurosciences, University of Leuven, Leuven, Belgium; Department of Neurosurgery, University Hospitals Leuven, Leuven, Belgium., Theys T; Experimental Neurosurgery and Neuroanatomy, Department of Neurosciences, University of Leuven, Leuven, Belgium; Department of Neurosurgery, University Hospitals Leuven, Leuven, Belgium., De Vloo P; Experimental Neurosurgery and Neuroanatomy, Department of Neurosciences, University of Leuven, Leuven, Belgium; Department of Neurosurgery, University Hospitals Leuven, Leuven, Belgium.

المصدر: Neuromodulation : journal of the International Neuromodulation Society [Neuromodulation] 2024 Apr; Vol. 27 (3), pp. 440-446. Date of Electronic Publication: 2023 Nov 24.

نوع المنشور: Meta-Analysis; Systematic Review; Journal Article; Review

بيانات الدورية: Publisher: Elsevier Country of Publication: United States NLM ID: 9804159 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1525-1403 (Electronic) Linking ISSN: 10947159 NLM ISO Abbreviation: Neuromodulation Subsets: MEDLINE

مواضيع طبية MeSH: Deep Brain Stimulation* , Dystonia*/genetics , Dystonia*/therapy , Dystonic Disorders*/genetics , Dystonic Disorders*/therapy , Heredodegenerative Disorders, Nervous System*, Child, Preschool ; Female ; Humans ; Male ; Globus Pallidus/physiology ; GTP-Binding Protein alpha Subunits, Gi-Go ; Treatment Outcome ; Infant, Newborn ; Infant ; Child

SCR Disease Name: Fatty Acid Hydroxylase-Associated Neurodegeneration

المؤلفون: Mo L; Shaanxi Institute for Pediatric Diseases, Xi'an Children's Hospital, Xi'an, China., Tie X; Department of Rehabilitation, Xi'an Children's Hospital, Xi'an, China., Che F; Shaanxi Institute for Pediatric Diseases, Xi'an Children's Hospital, Xi'an, China., Zhang L; Shaanxi Institute for Pediatric Diseases, Xi'an Children's Hospital, Xi'an, China., Li B; Shaanxi Institute for Pediatric Diseases, Xi'an Children's Hospital, Xi'an, China., Wang G; Shaanxi Institute for Pediatric Diseases, Xi'an Children's Hospital, Xi'an, China., Yang Y; Shaanxi Institute for Pediatric Diseases, Xi'an Children's Hospital, Xi'an, China. Electronic address: yying1930@163.com.

المصدر: Pediatric neurology [Pediatr Neurol] 2024 Mar; Vol. 152, pp. 200-208. Date of Electronic Publication: 2024 Jan 05.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Elsevier Science Publishing Country of Publication: United States NLM ID: 8508183 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1873-5150 (Electronic) Linking ISSN: 08878994 NLM ISO Abbreviation: Pediatr Neurol Subsets: MEDLINE

مواضيع طبية MeSH: Lipidomics* , Spastic Paraplegia, Hereditary*/genetics , Spastic Paraplegia, Hereditary*/diagnosis , Heredodegenerative Disorders, Nervous System*, Male ; Humans ; Child, Preschool ; Homozygote ; Leukocytes, Mononuclear/pathology ; Sequence Deletion/genetics ; Mutation ; Exons/genetics ; Pedigree ; Paraplegia

SCR Disease Name: Fatty Acid Hydroxylase-Associated Neurodegeneration

المؤلفون: Shepherd H; The Walton Centre NHS Foundation Trust for Neurology and Neurosurgery, Liverpool, UK; University of Liverpool Medical School, Liverpool, UK. Electronic address: hilary.shepherd@student.liverpool.ac.uk., Heartshorne R; The Walton Centre NHS Foundation Trust for Neurology and Neurosurgery, Liverpool, UK., Osman-Farah J; The Walton Centre NHS Foundation Trust for Neurology and Neurosurgery, Liverpool, UK., Macerollo A; The Walton Centre NHS Foundation Trust for Neurology and Neurosurgery, Liverpool, UK; Institute of Systems, Molecular and Integrative Biology, University of Liverpool, UK.

المصدر: Journal of the neurological sciences [J Neurol Sci] 2024 Feb 15; Vol. 457, pp. 122887. Date of Electronic Publication: 2024 Jan 26.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Elsevier Country of Publication: Netherlands NLM ID: 0375403 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1878-5883 (Electronic) Linking ISSN: 0022510X NLM ISO Abbreviation: J Neurol Sci Subsets: MEDLINE

مواضيع طبية MeSH: Dystonia*/etiology , Deep Brain Stimulation*/adverse effects , Essential Tremor*/therapy , Heredodegenerative Disorders, Nervous System*, Humans ; Tremor/therapy ; Tremor/etiology ; Quality of Life ; Follow-Up Studies ; Retrospective Studies ; Treatment Outcome

SCR Disease Name: Fatty Acid Hydroxylase-Associated Neurodegeneration

المؤلفون: Engin Erdal A; Department of Pediatric Metabolic Diseases, Children's Hospital, Ankara Bilkent City Hospital, Ankara, Türkiye., Yürek B; Department of Pediatric Metabolic Diseases, Children's Hospital, Ankara Bilkent City Hospital, Ankara, Türkiye., Kıreker Köylü O; Department of Pediatric Metabolic Diseases, Children's Hospital, Ankara Bilkent City Hospital, Ankara, Türkiye., Ceylan AC; Department of Medical Genetics, Ankara Bilkent City Hospital, Ankara, Türkiye., Çıtak Kurt AN; Department of Pediatric Neurology, Children's Hospital, Ankara Bilkent City Hospital, Ankara, Türkiye., Kasapkara ÇS; Department of Pediatric Metabolic Diseases, Children's Hospital, Ankara Bilkent City Hospital, Ankara, Türkiye.

المصدر: Journal of pediatric endocrinology & metabolism : JPEM [J Pediatr Endocrinol Metab] 2024 Feb 06; Vol. 37 (3), pp. 271-275. Date of Electronic Publication: 2024 Feb 06 (Print Publication: 2024).

نوع المنشور: Case Reports

بيانات الدورية: Publisher: Walter de Gruyter Country of Publication: Germany NLM ID: 9508900 Publication Model: Electronic-Print Cited Medium: Internet ISSN: 2191-0251 (Electronic) Linking ISSN: 0334018X NLM ISO Abbreviation: J Pediatr Endocrinol Metab Subsets: MEDLINE

مواضيع طبية MeSH: Spastic Paraplegia, Hereditary*/genetics , Spastic Paraplegia, Hereditary*/pathology , Heredodegenerative Disorders, Nervous System*, Child ; Female ; Humans ; Child, Preschool ; Mutation ; Mixed Function Oxygenases/genetics ; Magnetic Resonance Imaging ; Pedigree ; Paraplegia ; Iron

SCR Disease Name: Fatty Acid Hydroxylase-Associated Neurodegeneration

المؤلفون: German A; Department of Molecular Neurology, Friedrich-Alexander-Universität Erlangen-Nürnberg (FAU), 91054 Erlangen, Germany., Jukic J; Department of Molecular Neurology, Friedrich-Alexander-Universität Erlangen-Nürnberg (FAU), 91054 Erlangen, Germany., Laner A; MGZ-Medizinisch Genetisches Zentrum, 80335 Munich, Germany., Arnold P; Institute of Functional and Clinical Anatomy, Friedrich-Alexander-Universität Erlangen-Nürnberg (FAU), 91054 Erlangen, Germany., Socher E; Institute of Functional and Clinical Anatomy, Friedrich-Alexander-Universität Erlangen-Nürnberg (FAU), 91054 Erlangen, Germany., Mennecke A; Institute of Neuroradiology, Friedrich-Alexander-Universität Erlangen-Nürnberg (FAU), 91054 Erlangen, Germany., Schmidt MA; Institute of Neuroradiology, Friedrich-Alexander-Universität Erlangen-Nürnberg (FAU), 91054 Erlangen, Germany., Winkler J; Department of Molecular Neurology, Friedrich-Alexander-Universität Erlangen-Nürnberg (FAU), 91054 Erlangen, Germany.; Center for Rare Diseases (ZSEER), University Hospital Erlangen, 91054 Erlangen, Germany., Abicht A; MGZ-Medizinisch Genetisches Zentrum, 80335 Munich, Germany., Regensburger M; Department of Molecular Neurology, Friedrich-Alexander-Universität Erlangen-Nürnberg (FAU), 91054 Erlangen, Germany.; Center for Rare Diseases (ZSEER), University Hospital Erlangen, 91054 Erlangen, Germany.

المصدر: Genes [Genes (Basel)] 2023 Dec 20; Vol. 15 (1). Date of Electronic Publication: 2023 Dec 20.

نوع المنشور: Case Reports; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: MDPI Country of Publication: Switzerland NLM ID: 101551097 Publication Model: Electronic Cited Medium: Internet ISSN: 2073-4425 (Electronic) Linking ISSN: 20734425 NLM ISO Abbreviation: Genes (Basel) Subsets: MEDLINE

مواضيع طبية MeSH: Mixed Function Oxygenases*/genetics , Heredodegenerative Disorders, Nervous System*/genetics , Spastic Paraplegia, Hereditary*, Male ; Humans ; Adolescent ; Magnetic Resonance Imaging ; Mutation

SCR Disease Name: Fatty Acid Hydroxylase-Associated Neurodegeneration; Leukodystrophy, Dysmyelinating, And Spastic Paraparesis With Or Without Dystonia

المؤلفون: Hashemi N; Department of Pediatrics, School of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran., Abadi RNS; School of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran., Alavi A; Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran., Rohani M; Department of Neurology, School of Medicine, Rasool Akram Hospital, Iran University of Medical Sciences, Tehran, Iran., Ghasemi A; Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran., Tavasoli AR; Pediatric Neurology Division, Children's Medical Center, Pediatric Center of Excellence, Tehran University of Medical Sciences, Tehran, Iran. a_tavasoli@sina.tums.ac.ir.; Jefferson Institute of Molecular Medicine, Thomas Jefferson University, Philadelphia, PA, USA. a_tavasoli@sina.tums.ac.ir.

المصدر: Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology [Neurol Sci] 2023 Dec; Vol. 44 (12), pp. 4359-4362. Date of Electronic Publication: 2023 Jul 06.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Springer-Verlag Italia Country of Publication: Italy NLM ID: 100959175 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1590-3478 (Electronic) Linking ISSN: 15901874 NLM ISO Abbreviation: Neurol Sci Subsets: MEDLINE

مواضيع طبية MeSH: Heredodegenerative Disorders, Nervous System*/genetics , Pantothenate Kinase-Associated Neurodegeneration*/genetics , Spastic Paraplegia, Hereditary*/diagnostic imaging , Spastic Paraplegia, Hereditary*/genetics, Humans ; Brain/diagnostic imaging ; Iran ; Iron ; Mutation/genetics

SCR Disease Name: Fatty Acid Hydroxylase-Associated Neurodegeneration

المؤلفون: Wirth T; 1Department of Clinical and Movement Neurosciences, Unit of Functional Neurosurgery, National Hospital for Neurology and Neurosurgery, UCLH-UCL Queen Square Institute of Neurology, London, United Kingdom.; 2Neurology Department, Strasbourg University Hospital, Strasbourg, France.; 3Institute of Genetics and Molecular and Cellular Biology, University of Strasbourg, Illkirch, France., Goedemans T; 1Department of Clinical and Movement Neurosciences, Unit of Functional Neurosurgery, National Hospital for Neurology and Neurosurgery, UCLH-UCL Queen Square Institute of Neurology, London, United Kingdom.; 4Department of Neurosurgery, Amsterdam UMC, University of Amsterdam, Neurosurgical Center Amsterdam, The Netherlands., Rajabian A; 1Department of Clinical and Movement Neurosciences, Unit of Functional Neurosurgery, National Hospital for Neurology and Neurosurgery, UCLH-UCL Queen Square Institute of Neurology, London, United Kingdom., Dayal V; 1Department of Clinical and Movement Neurosciences, Unit of Functional Neurosurgery, National Hospital for Neurology and Neurosurgery, UCLH-UCL Queen Square Institute of Neurology, London, United Kingdom.; 5Neurology Department, Auckland City Hospital, Auckland, New Zealand., Abuhusain H; 1Department of Clinical and Movement Neurosciences, Unit of Functional Neurosurgery, National Hospital for Neurology and Neurosurgery, UCLH-UCL Queen Square Institute of Neurology, London, United Kingdom.; 6Neurosurgery Department, Royal Hallamshire Hospital, Sheffield, United Kingdom; and., Vijiaratnam N; 1Department of Clinical and Movement Neurosciences, Unit of Functional Neurosurgery, National Hospital for Neurology and Neurosurgery, UCLH-UCL Queen Square Institute of Neurology, London, United Kingdom., Athauda D; 1Department of Clinical and Movement Neurosciences, Unit of Functional Neurosurgery, National Hospital for Neurology and Neurosurgery, UCLH-UCL Queen Square Institute of Neurology, London, United Kingdom., Hariz M; 1Department of Clinical and Movement Neurosciences, Unit of Functional Neurosurgery, National Hospital for Neurology and Neurosurgery, UCLH-UCL Queen Square Institute of Neurology, London, United Kingdom.; 7Department of Clinical Science, Neuroscience, Umeå University, Umeå, Sweden., Foltynie T; 1Department of Clinical and Movement Neurosciences, Unit of Functional Neurosurgery, National Hospital for Neurology and Neurosurgery, UCLH-UCL Queen Square Institute of Neurology, London, United Kingdom., Limousin P; 1Department of Clinical and Movement Neurosciences, Unit of Functional Neurosurgery, National Hospital for Neurology and Neurosurgery, UCLH-UCL Queen Square Institute of Neurology, London, United Kingdom., Akram H; 1Department of Clinical and Movement Neurosciences, Unit of Functional Neurosurgery, National Hospital for Neurology and Neurosurgery, UCLH-UCL Queen Square Institute of Neurology, London, United Kingdom., Zrinzo L; 1Department of Clinical and Movement Neurosciences, Unit of Functional Neurosurgery, National Hospital for Neurology and Neurosurgery, UCLH-UCL Queen Square Institute of Neurology, London, United Kingdom.

المصدر: Journal of neurosurgery [J Neurosurg] 2023 Oct 13; Vol. 140 (4), pp. 1148-1154. Date of Electronic Publication: 2023 Oct 13 (Print Publication: 2024).

نوع المنشور: Journal Article

بيانات الدورية: Publisher: American Association of Neurological Surgeons Country of Publication: United States NLM ID: 0253357 Publication Model: Electronic-Print Cited Medium: Internet ISSN: 1933-0693 (Electronic) Linking ISSN: 00223085 NLM ISO Abbreviation: J Neurosurg Subsets: MEDLINE

مواضيع طبية MeSH: Essential Tremor*/diagnostic imaging , Essential Tremor*/surgery , Parkinson Disease*/therapy , Heredodegenerative Disorders, Nervous System*, Humans ; Tremor/diagnostic imaging ; Tremor/etiology ; Tremor/surgery ; Treatment Outcome ; Thalamus/diagnostic imaging ; Thalamus/surgery ; Magnetic Resonance Imaging

SCR Disease Name: Fatty Acid Hydroxylase-Associated Neurodegeneration

المؤلفون: Efendic F; Translational Neurodegeneration Section 'Albrecht Kossel', Department of Neurology, University Medical Centre Rostock, 18147 Rostock, Germany., Krohn S; Department of Medicine, Clinic III - Hematology, Oncology, Palliative Medicine, University Medical Centre Rostock, 18057 Rostock, Germany., Murua Escobar H; Department of Medicine, Clinic III - Hematology, Oncology, Palliative Medicine, University Medical Centre Rostock, 18057 Rostock, Germany., Venkateswaran S; Division of Pediatric Neurology, Department of Pediatrics, Children's Hospital of Eastern Ontario, Ontario, Ottawa, ON K1H 8L1, Canada., Bennett SAL; Neural Regeneration Laboratory, Department of Biochemistry, Microbiology, and Immunology, University of Ottawa, Ottawa, ON K1H 8M5, Canada., Hermann A; Translational Neurodegeneration Section 'Albrecht Kossel', Department of Neurology, University Medical Centre Rostock, 18147 Rostock, Germany; Center for Transdisciplinary Neurosciences Rostock (CTNR), University Medical Centre Rostock, 18147 Rostock, Germany; Deutsches Zentrum für Neurodegenerative Erkrankungen (DZNE) Rostock/Greifswald, 18147 Rostock, Germany., Frech MJ; Translational Neurodegeneration Section 'Albrecht Kossel', Department of Neurology, University Medical Centre Rostock, 18147 Rostock, Germany; Center for Transdisciplinary Neurosciences Rostock (CTNR), University Medical Centre Rostock, 18147 Rostock, Germany.

المصدر: Stem cell research [Stem Cell Res] 2023 Sep; Vol. 71, pp. 103178. Date of Electronic Publication: 2023 Aug 09.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Elsevier Country of Publication: England NLM ID: 101316957 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1876-7753 (Electronic) Linking ISSN: 18735061 NLM ISO Abbreviation: Stem Cell Res Subsets: MEDLINE

مواضيع طبية MeSH: Induced Pluripotent Stem Cells*/metabolism , Neurodegenerative Diseases*/metabolism , Heredodegenerative Disorders, Nervous System*/metabolism, Humans ; Mutation/genetics ; Fibroblasts

SCR Disease Name: Fatty Acid Hydroxylase-Associated Neurodegeneration

المؤلفون: Narotam-Jeena H; Division of Neurology, Department of Medicine, University of Stellenbosch, Cape Town, South Africa., Guttman M; Centre for Movement Disorders, Markham Ontario, Division of Neurology, University of Toronto, Toronto, Ontario, Canada., van Hillegondsberg L; Division of Neurology, Department of Medicine, University of Stellenbosch, Cape Town, South Africa., van Coller R; Department of Neurology, University of Pretoria, Pretoria, South Africa., Krause A; Division of Human Genetics, National Health Laboratory Service and School of Pathology, Faculty of Health Sciences, University of Witwatersrand, Johannesburg, South Africa., Carr J; Division of Neurology, Department of Medicine, University of Stellenbosch, Cape Town, South Africa.

المصدر: Movement disorders clinical practice [Mov Disord Clin Pract] 2024 Jul; Vol. 11 (7), pp. 850-854. Date of Electronic Publication: 2024 May 09.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Wiley Country of Publication: United States NLM ID: 101630279 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2330-1619 (Electronic) Linking ISSN: 23301619 NLM ISO Abbreviation: Mov Disord Clin Pract Subsets: MEDLINE

مواضيع طبية MeSH: Magnetic Resonance Imaging*, Humans ; Male ; South Africa/epidemiology ; Female ; Middle Aged ; Adult ; Black People/genetics ; Huntington Disease/genetics ; Huntington Disease/diagnosis ; Huntington Disease/ethnology ; Aged ; Heredodegenerative Disorders, Nervous System/genetics ; Heredodegenerative Disorders, Nervous System/diagnosis ; Neurodegenerative Diseases/diagnosis ; Neurodegenerative Diseases/genetics ; Neurodegenerative Diseases/pathology ; Brain/pathology ; Brain/diagnostic imaging ; Chorea/genetics ; Chorea/diagnosis ; Cognition Disorders ; Dementia

SCR Disease Name: Huntington Disease-Like 2

المؤلفون: Jiang A; Applied Translational Genetics Group, Centre for Brain Research, School of Biological Sciences, The University of Auckland, Auckland 1010, New Zealand., Handley RR; Applied Translational Genetics Group, Centre for Brain Research, School of Biological Sciences, The University of Auckland, Auckland 1010, New Zealand., Lehnert K; Applied Translational Genetics Group, Centre for Brain Research, School of Biological Sciences, The University of Auckland, Auckland 1010, New Zealand., Snell RG; Applied Translational Genetics Group, Centre for Brain Research, School of Biological Sciences, The University of Auckland, Auckland 1010, New Zealand.

المصدر: International journal of molecular sciences [Int J Mol Sci] 2023 Aug 21; Vol. 24 (16). Date of Electronic Publication: 2023 Aug 21.

نوع المنشور: Journal Article; Review

بيانات الدورية: Publisher: MDPI Country of Publication: Switzerland NLM ID: 101092791 Publication Model: Electronic Cited Medium: Internet ISSN: 1422-0067 (Electronic) Linking ISSN: 14220067 NLM ISO Abbreviation: Int J Mol Sci Subsets: MEDLINE

مواضيع طبية MeSH: Huntington Disease*/genetics , Huntington Disease*/therapy , Heredodegenerative Disorders, Nervous System*, Humans ; Caudate Nucleus ; Cytopathogenic Effect, Viral ; Dopamine ; Mutant Proteins