Zobrazeno 1 - 10
of 5 296
pro vyhledávání: '"Pantothenate Kinase-associated Neurodegeneration"'
Autor:
Pereira A; Pediatrics Service, Hospital Moinhos de Vento, Porto Alegre, RS, Brazil., Fischinger Moura de Souza C; Medical Genetics Service, Hospital de Clínicas de Porto Alegre, Casa Dos Raros, Porto Alegre, RS, Brazil., Álvarez-Córdoba M; Andalusian Centre for Developmental Biology-CSIC-Pablo de Olavide University, 41013, Seville, Spain., Reche-López D; Andalusian Centre for Developmental Biology-CSIC-Pablo de Olavide University, 41013, Seville, Spain., Sánchez-Alcázar JA; Andalusian Centre for Developmental Biology-CSIC-Pablo de Olavide University, 41013, Seville, Spain. jasanalc@upo.es.
Publikováno v:
Orphanet journal of rare diseases [Orphanet J Rare Dis] 2024 Nov 28; Vol. 19 (1), pp. 442. Date of Electronic Publication: 2024 Nov 28.
Autor:
Chan JL; Norman Fixel Institute for Neurological Diseases, University of Florida, Gainesville, Florida, USA.; Department of Neurology, University of Florida, Gainesville, Florida, USA., Rawls AE; Norman Fixel Institute for Neurological Diseases, University of Florida, Gainesville, Florida, USA.; Department of Neurology, University of Florida, Gainesville, Florida, USA., Wong JK; Norman Fixel Institute for Neurological Diseases, University of Florida, Gainesville, Florida, USA.; Department of Neurology, University of Florida, Gainesville, Florida, USA., Hogarth P; Department of Molecular and Medical Genetics, Oregon Health & Science University, Portland, Oregon, USA., Hilliard JD; Norman Fixel Institute for Neurological Diseases, University of Florida, Gainesville, Florida, USA.; Department of Neurosurgery, University of Florida, Gainesville, Florida, USA., Okun MS; Norman Fixel Institute for Neurological Diseases, University of Florida, Gainesville, Florida, USA.; Department of Neurology, University of Florida, Gainesville, Florida, USA.
Publikováno v:
Tremor and other hyperkinetic movements (New York, N.Y.) [Tremor Other Hyperkinet Mov (N Y)] 2024 Oct 17; Vol. 14, pp. 51. Date of Electronic Publication: 2024 Oct 17 (Print Publication: 2024).
Deep Brain Stimulation in a 10-Year-Old Child with Pantothenate Kinase-associated Neurodegeneration.
Autor:
Nenadic-Baranasic N; Division of Pediatric Neurology, Department of Paediatrics, University Hospital Centre Zagreb, Zagreb, Croatia., Nemir J; Division of Stereotactic, Functional amd Radio Neurosurgery, Department of Neurosurgery, University Hospital Centre Zagreb, Zagreb, Croatia., Borovecki F; Division of Neurodegenerative Diseases and Neurogenomics, Department of Neurology, University Hospital Centre Zagreb, Zagreb, Croatia., Njiric N; Division of Stereotactic, Functional amd Radio Neurosurgery, Department of Neurosurgery, University Hospital Centre Zagreb, Zagreb, Croatia., Lehman I; Division of Pediatric Neurology, Department of Paediatrics, University Hospital Centre Zagreb, Zagreb, Croatia.
Publikováno v:
Neuropediatrics [Neuropediatrics] 2024 Aug; Vol. 55 (4), pp. 269. Date of Electronic Publication: 2024 Apr 09.
Novel PANK2 Variant in Asian Indians with Atypical Pantothenate Kinase Associated Neurodegeneration.
Autor:
Saini A; Department of Neurology, All India Institute of Medical Sciences, New Delhi, India., Holla VV; Department of Neurology, National Institute of Mental Health and Neurosciences, Bengaluru, India., Kalikavil Puthanveedu D; Department of Neurology, Sree Chitra Tirunal Institute for Medical Sciences and Technology, Trivandrum, India., Mehta S; Department of Neurology, Postgraduate Institute of Medical Education and Research, Chandigarh, India., Elavarasi A; Department of Neurology, All India Institute of Medical Sciences, New Delhi, India., Pillai KS; Parkinson and Movement Disorder Centre, Centre for Excellence in Neurosciences, Aster Medcity, Kochi, India., Mohapatra P; Department of Neurology, All India Institute of Medical Sciences, New Delhi, India., Kumari R; Institute of Bioinformatics, Bengaluru, India.; Manipal Academy of Higher Education, Manipal, India., Bari S; Council of Scientific and Industrial Research-Institute of Genomics and Integrative Biology, New Delhi, India., Singh I; Department of Neurology, All India Institute of Medical Sciences, New Delhi, India., Cherian A; Department of Neurology, Sree Chitra Tirunal Institute for Medical Sciences and Technology, Trivandrum, India., Krishnan S; Department of Neurology, Sree Chitra Tirunal Institute for Medical Sciences and Technology, Trivandrum, India., Radhakrishnan DM; Department of Neurology, All India Institute of Medical Sciences, New Delhi, India., Agarwal A; Department of Neurology, All India Institute of Medical Sciences, New Delhi, India., Garg D; Department of Neurology, All India Institute of Medical Sciences, New Delhi, India., Garg K; Department of Neurosurgery, All India Institute of Medical Sciences, New Delhi, India., Singh M; Department of Neurosurgery, All India Institute of Medical Sciences, New Delhi, India., Garg A; Department of Neuroimaging and Interventional Neuroradiology, All India Institute of Medical Sciences, New Delhi, India., Muthusamy B; Institute of Bioinformatics, Bengaluru, India.; Manipal Academy of Higher Education, Manipal, India., Lal V; Department of Neurology, Postgraduate Institute of Medical Education and Research, Chandigarh, India., Kishore A; Parkinson and Movement Disorder Centre, Centre for Excellence in Neurosciences, Aster Medcity, Kochi, India., Pal PK; Department of Neurology, National Institute of Mental Health and Neurosciences, Bengaluru, India., Srivastava A; Department of Neurology, All India Institute of Medical Sciences, New Delhi, India., Faruq M; Council of Scientific and Industrial Research-Institute of Genomics and Integrative Biology, New Delhi, India., Rajan R; Department of Neurology, All India Institute of Medical Sciences, New Delhi, India.
Publikováno v:
Movement disorders : official journal of the Movement Disorder Society [Mov Disord] 2024 May; Vol. 39 (5), pp. 920-923. Date of Electronic Publication: 2024 Mar 20.
Autor:
Zhai Z; Functional Neurosurgery Department, National Center for Children's Health, Beijing Children's Hospital, Capital Medical University, Beijing, China; Laboratory for Clinical Medicine, Capital Medical University, Beijing, China., Sun K; Functional Neurosurgery Department, National Center for Children's Health, Beijing Children's Hospital, Capital Medical University, Beijing, China; Laboratory for Clinical Medicine, Capital Medical University, Beijing, China., Liu T; Functional Neurosurgery Department, National Center for Children's Health, Beijing Children's Hospital, Capital Medical University, Beijing, China., Liang S; Functional Neurosurgery Department, National Center for Children's Health, Beijing Children's Hospital, Capital Medical University, Beijing, China; Laboratory for Clinical Medicine, Capital Medical University, Beijing, China., Ding C; Department of Neurology, National Center for Children's Health, Beijing Children's Hospital, Capital Medical University, Beijing, China., Ren S; Department of Neurology, Beijing Children's Hospital Baoding Hospital, Capital Medical University, Baoding, China., Wei S; Department of Neurosurgery, Beijing Children's Hospital Baoding Hospital, Capital Medical University, Baoding, China., Zhai F; Functional Neurosurgery Department, National Center for Children's Health, Beijing Children's Hospital, Capital Medical University, Beijing, China; Laboratory for Clinical Medicine, Capital Medical University, Beijing, China. Electronic address: zhaif@ccmu.edu.cn., Zhang G; Functional Neurosurgery Department, National Center for Children's Health, Beijing Children's Hospital, Capital Medical University, Beijing, China; Laboratory for Clinical Medicine, Capital Medical University, Beijing, China. Electronic address: zgjxwyy@126.com.
Publikováno v:
Clinical neurology and neurosurgery [Clin Neurol Neurosurg] 2024 Jun; Vol. 241, pp. 108306. Date of Electronic Publication: 2024 May 01.
Publikováno v:
Postepy Psychiatrii i Neurologii / Advances in Psychiatry & Neurology. 2024, Vol. 33 Issue 3, p163-171. 9p.
Autor:
Behrndt L; Department of Orthopedics and Rehabilitation, Doernbecher Children's Hospital and Oregon Health & Science University., Gregory A; Departments of Molecular and Medical Genetics., Wakeman K; Departments of Molecular and Medical Genetics., Freed A; Departments of Molecular and Medical Genetics., Wilson JL; Division of Pediatric Neurology, Oregon Health & Science University, Portland, OR., Spaull R; Molecular Neurosciences, Developmental Neurosciences, Zayed Centre for Research into Rare Disease in Children, UCL Great Ormond Street Institute of Child Health.; Department of Neurology, Great Ormond Street Hospital, London., Kurian MA; Molecular Neurosciences, Developmental Neurosciences, Zayed Centre for Research into Rare Disease in Children, UCL Great Ormond Street Institute of Child Health.; Department of Neurology, Great Ormond Street Hospital, London., Mordekar S; Departments of Paediatric Neurology., Fernandes JA; Paediatric Orthopaedics, Trauma and Spinal Surgery, Sheffield Children's NHS Foundation Trust, Clarkson St, Sheffield, UK., Hayflick SJ; Molecular and Medical Genetics, Pediatrics and Neurology., Hogarth P; Molecular and Medical Genetics and Neurology., Yang S; Department of Orthopaedics and Sports Medicine, Seattle Children's Hospital, Seattle, WA.
Publikováno v:
Journal of pediatric orthopedics [J Pediatr Orthop] 2024 Jan 01; Vol. 44 (1), pp. e61-e68. Date of Electronic Publication: 2023 Oct 23.
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Autor:
Subramanian C; Departments of Infectious Diseases (C.S., M.W.F., C.O.R., S.J.), Chemical Biology and Therapeutics (R.T., R.E.L.), Structural Biology (M.-K.Y., S.W.W.), and St. Jude Graduate School of Biomedical Sciences (S.W.W.), St. Jude Children's Research Hospital, Memphis, Tennessee; Department of Microbiology, Immunology, and Biochemistry, University of Tennessee Health Science Center, Memphis, Tennessee (S.W.W., C.O.R.); and CoA Therapeutics, Inc., a BridgeBio Pharma, Inc. Company, Palo Alto, California (R.S., C.E.H., A.W., M.E.H., S.R., U.S.)., Frank MW; Departments of Infectious Diseases (C.S., M.W.F., C.O.R., S.J.), Chemical Biology and Therapeutics (R.T., R.E.L.), Structural Biology (M.-K.Y., S.W.W.), and St. Jude Graduate School of Biomedical Sciences (S.W.W.), St. Jude Children's Research Hospital, Memphis, Tennessee; Department of Microbiology, Immunology, and Biochemistry, University of Tennessee Health Science Center, Memphis, Tennessee (S.W.W., C.O.R.); and CoA Therapeutics, Inc., a BridgeBio Pharma, Inc. Company, Palo Alto, California (R.S., C.E.H., A.W., M.E.H., S.R., U.S.)., Sukhun R; Departments of Infectious Diseases (C.S., M.W.F., C.O.R., S.J.), Chemical Biology and Therapeutics (R.T., R.E.L.), Structural Biology (M.-K.Y., S.W.W.), and St. Jude Graduate School of Biomedical Sciences (S.W.W.), St. Jude Children's Research Hospital, Memphis, Tennessee; Department of Microbiology, Immunology, and Biochemistry, University of Tennessee Health Science Center, Memphis, Tennessee (S.W.W., C.O.R.); and CoA Therapeutics, Inc., a BridgeBio Pharma, Inc. Company, Palo Alto, California (R.S., C.E.H., A.W., M.E.H., S.R., U.S.)., Henry CE; Departments of Infectious Diseases (C.S., M.W.F., C.O.R., S.J.), Chemical Biology and Therapeutics (R.T., R.E.L.), Structural Biology (M.-K.Y., S.W.W.), and St. Jude Graduate School of Biomedical Sciences (S.W.W.), St. Jude Children's Research Hospital, Memphis, Tennessee; Department of Microbiology, Immunology, and Biochemistry, University of Tennessee Health Science Center, Memphis, Tennessee (S.W.W., C.O.R.); and CoA Therapeutics, Inc., a BridgeBio Pharma, Inc. Company, Palo Alto, California (R.S., C.E.H., A.W., M.E.H., S.R., U.S.)., Wade A; Departments of Infectious Diseases (C.S., M.W.F., C.O.R., S.J.), Chemical Biology and Therapeutics (R.T., R.E.L.), Structural Biology (M.-K.Y., S.W.W.), and St. Jude Graduate School of Biomedical Sciences (S.W.W.), St. Jude Children's Research Hospital, Memphis, Tennessee; Department of Microbiology, Immunology, and Biochemistry, University of Tennessee Health Science Center, Memphis, Tennessee (S.W.W., C.O.R.); and CoA Therapeutics, Inc., a BridgeBio Pharma, Inc. Company, Palo Alto, California (R.S., C.E.H., A.W., M.E.H., S.R., U.S.)., Harden ME; Departments of Infectious Diseases (C.S., M.W.F., C.O.R., S.J.), Chemical Biology and Therapeutics (R.T., R.E.L.), Structural Biology (M.-K.Y., S.W.W.), and St. Jude Graduate School of Biomedical Sciences (S.W.W.), St. Jude Children's Research Hospital, Memphis, Tennessee; Department of Microbiology, Immunology, and Biochemistry, University of Tennessee Health Science Center, Memphis, Tennessee (S.W.W., C.O.R.); and CoA Therapeutics, Inc., a BridgeBio Pharma, Inc. Company, Palo Alto, California (R.S., C.E.H., A.W., M.E.H., S.R., U.S.)., Rao S; Departments of Infectious Diseases (C.S., M.W.F., C.O.R., S.J.), Chemical Biology and Therapeutics (R.T., R.E.L.), Structural Biology (M.-K.Y., S.W.W.), and St. Jude Graduate School of Biomedical Sciences (S.W.W.), St. Jude Children's Research Hospital, Memphis, Tennessee; Department of Microbiology, Immunology, and Biochemistry, University of Tennessee Health Science Center, Memphis, Tennessee (S.W.W., C.O.R.); and CoA Therapeutics, Inc., a BridgeBio Pharma, Inc. Company, Palo Alto, California (R.S., C.E.H., A.W., M.E.H., S.R., U.S.)., Tangallapally R; Departments of Infectious Diseases (C.S., M.W.F., C.O.R., S.J.), Chemical Biology and Therapeutics (R.T., R.E.L.), Structural Biology (M.-K.Y., S.W.W.), and St. Jude Graduate School of Biomedical Sciences (S.W.W.), St. Jude Children's Research Hospital, Memphis, Tennessee; Department of Microbiology, Immunology, and Biochemistry, University of Tennessee Health Science Center, Memphis, Tennessee (S.W.W., C.O.R.); and CoA Therapeutics, Inc., a BridgeBio Pharma, Inc. Company, Palo Alto, California (R.S., C.E.H., A.W., M.E.H., S.R., U.S.)., Yun MK; Departments of Infectious Diseases (C.S., M.W.F., C.O.R., S.J.), Chemical Biology and Therapeutics (R.T., R.E.L.), Structural Biology (M.-K.Y., S.W.W.), and St. Jude Graduate School of Biomedical Sciences (S.W.W.), St. Jude Children's Research Hospital, Memphis, Tennessee; Department of Microbiology, Immunology, and Biochemistry, University of Tennessee Health Science Center, Memphis, Tennessee (S.W.W., C.O.R.); and CoA Therapeutics, Inc., a BridgeBio Pharma, Inc. Company, Palo Alto, California (R.S., C.E.H., A.W., M.E.H., S.R., U.S.)., White SW; Departments of Infectious Diseases (C.S., M.W.F., C.O.R., S.J.), Chemical Biology and Therapeutics (R.T., R.E.L.), Structural Biology (M.-K.Y., S.W.W.), and St. Jude Graduate School of Biomedical Sciences (S.W.W.), St. Jude Children's Research Hospital, Memphis, Tennessee; Department of Microbiology, Immunology, and Biochemistry, University of Tennessee Health Science Center, Memphis, Tennessee (S.W.W., C.O.R.); and CoA Therapeutics, Inc., a BridgeBio Pharma, Inc. Company, Palo Alto, California (R.S., C.E.H., A.W., M.E.H., S.R., U.S.)., Lee RE; Departments of Infectious Diseases (C.S., M.W.F., C.O.R., S.J.), Chemical Biology and Therapeutics (R.T., R.E.L.), Structural Biology (M.-K.Y., S.W.W.), and St. Jude Graduate School of Biomedical Sciences (S.W.W.), St. Jude Children's Research Hospital, Memphis, Tennessee; Department of Microbiology, Immunology, and Biochemistry, University of Tennessee Health Science Center, Memphis, Tennessee (S.W.W., C.O.R.); and CoA Therapeutics, Inc., a BridgeBio Pharma, Inc. Company, Palo Alto, California (R.S., C.E.H., A.W., M.E.H., S.R., U.S.) richard.lee@stjude.org., Sinha U; Departments of Infectious Diseases (C.S., M.W.F., C.O.R., S.J.), Chemical Biology and Therapeutics (R.T., R.E.L.), Structural Biology (M.-K.Y., S.W.W.), and St. Jude Graduate School of Biomedical Sciences (S.W.W.), St. Jude Children's Research Hospital, Memphis, Tennessee; Department of Microbiology, Immunology, and Biochemistry, University of Tennessee Health Science Center, Memphis, Tennessee (S.W.W., C.O.R.); and CoA Therapeutics, Inc., a BridgeBio Pharma, Inc. Company, Palo Alto, California (R.S., C.E.H., A.W., M.E.H., S.R., U.S.)., Rock CO; Departments of Infectious Diseases (C.S., M.W.F., C.O.R., S.J.), Chemical Biology and Therapeutics (R.T., R.E.L.), Structural Biology (M.-K.Y., S.W.W.), and St. Jude Graduate School of Biomedical Sciences (S.W.W.), St. Jude Children's Research Hospital, Memphis, Tennessee; Department of Microbiology, Immunology, and Biochemistry, University of Tennessee Health Science Center, Memphis, Tennessee (S.W.W., C.O.R.); and CoA Therapeutics, Inc., a BridgeBio Pharma, Inc. Company, Palo Alto, California (R.S., C.E.H., A.W., M.E.H., S.R., U.S.)., Jackowski S; Departments of Infectious Diseases (C.S., M.W.F., C.O.R., S.J.), Chemical Biology and Therapeutics (R.T., R.E.L.), Structural Biology (M.-K.Y., S.W.W.), and St. Jude Graduate School of Biomedical Sciences (S.W.W.), St. Jude Children's Research Hospital, Memphis, Tennessee; Department of Microbiology, Immunology, and Biochemistry, University of Tennessee Health Science Center, Memphis, Tennessee (S.W.W., C.O.R.); and CoA Therapeutics, Inc., a BridgeBio Pharma, Inc. Company, Palo Alto, California (R.S., C.E.H., A.W., M.E.H., S.R., U.S.).
Publikováno v:
The Journal of pharmacology and experimental therapeutics [J Pharmacol Exp Ther] 2024 Jan 02; Vol. 388 (1), pp. 171-180. Date of Electronic Publication: 2024 Jan 02.
Autor:
Kumar S; Department of Neurology, King George's Medical University, Lucknow, Uttar Pradesh, India., Pandey S, Malhotra HS, Garg RK
Publikováno v:
Neurology India [Neurol India] 2024 Jan 01; Vol. 72 (1), pp. 221-222. Date of Electronic Publication: 2024 Feb 29.