Parkinsonism may be part of the symptom complex of DOOR syndrome (260 views)
Parkinsonism Relat D (ISSN: 1353-8020, 1873-5126, 1353-8020print), 2014 Apr; 20(4): 463-465.
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Paper type: Letter, Case Reports, Research Support, Non-U. S. Gov'T, Journal Article,
Impact factor: 3.972, 5-year impact factor: 3.885
Url: http://www.scopus.com/inward/record.url?eid=2-s2.0-84897965850&partnerID=40&md5=223c77fe99cbe23696f4b6de4eaabd79
Keywords: Craniofacial Abnormalities Complications Physiopathology, Female, Hand Deformities, Congenital Complications Physiopathology, Hearing Loss, Sensorineural Complications Physiopathology, Humans, Intellectual Disability Complications Physiopathology, Nails, Malformed Complications Physiopathology, Parkinsonian Disorders Etiology Physiopathology, Young Adult, 2 Oxoglutaric Acid, Anticonvulsive Agent, Etiracetam, Lamotrigine, Pramipexole, Topiramate, Valproic Acid, Case Report, Congenital Disorder, Disease Course, Disease Severity, Gene Mutation, Growth, Letter, Mental Deficiency, Monotherapy, Mortality, Motor Development, Motor Dysfunction, Neurologic Examination, Nuclear Magnetic Resonance Imaging, Perception Deafness, Polyneuropathy, Priority Journal, Symptomatology, Syndrome Door, Tonic Clonic Seizure, Tremor, Unified Parkinson Disease Rating Scale, Craniofacial Malformation, Hand Malformation, Intellectual Impairment, Nail Disease, Pathophysiology,
Affiliations:
*** IBB - CNR ***
Department of Neurosciences and Reproductive and Odontostomatological Sciences, Federico II University, Naples, Italy.
Biostructure and Bioimaging Institute, CNR, Naples, Italy.
References:
James, A.W., Miranda, S.G., Culver, K., Hall, B.D., Golabi, M., DOOR syndrome: clinical report, literature review and discussion of natural history (2007) Am J Med Genet A, 143 A, pp. 2821-283
Rajab, A., Riaz, A., Paul, G., Al-Khusaibi, S., Chalmers, R., Patton, M.A., Further delineation of the DOOR syndrome (2000) Clin Dysmorphol, 9, pp. 247-251
Surendran, S., Michals-Matalon, K., Krywawych, S., Qazi, Q.H., Tuchman, R., Rady, P.L., DOOR syndrome: deficiency of E1 component of the 2-oxoglutarate dehydrogenase complex (2002) Am J Med Genet, 113, pp. 371-374
Gascon, G.G., Ozand, P.T., Brismar, J., Movement disorders in childhood organic acidurias. Clinical, neuroimaging, and biochemical correlations (1994) Brain Dev, 16 (SUPPL), pp. 94-103
van Bever, Y., Balemans, W., Duval, E.L., Jespers, A., Eyskens, F., van Hul, W., Exclusion of OGDH and BMP4 as candidate genes in two siblings with autosomal recessive DOOR syndrome (2007) Am J Med Genet A, 143, pp. 763-767
James, A. W., Miranda, S. G., Culver, K., Hall, B. D., Golabi, M., DOOR syndrome: clinical report, literature review and discussion of natural history (2007) Am J Med Genet A, 143 A, pp. 2821-283
Gascon, G. G., Ozand, P. T., Brismar, J., Movement disorders in childhood organic acidurias. Clinical, neuroimaging, and biochemical correlations (1994) Brain Dev, 16 (SUPPL), pp. 94-103
Parkinsonism Relat D (ISSN: 1353-8020, 1873-5126, 1353-8020print), 2014 Apr; 20(4): 463-465.
Export to BibTeX Export to EndNote
Paper type: Letter, Case Reports, Research Support, Non-U. S. Gov'T, Journal Article,
Impact factor: 3.972, 5-year impact factor: 3.885
Url: http://www.scopus.com/inward/record.url?eid=2-s2.0-84897965850&partnerID=40&md5=223c77fe99cbe23696f4b6de4eaabd79
Keywords: Craniofacial Abnormalities Complications Physiopathology, Female, Hand Deformities, Congenital Complications Physiopathology, Hearing Loss, Sensorineural Complications Physiopathology, Humans, Intellectual Disability Complications Physiopathology, Nails, Malformed Complications Physiopathology, Parkinsonian Disorders Etiology Physiopathology, Young Adult, 2 Oxoglutaric Acid, Anticonvulsive Agent, Etiracetam, Lamotrigine, Pramipexole, Topiramate, Valproic Acid, Case Report, Congenital Disorder, Disease Course, Disease Severity, Gene Mutation, Growth, Letter, Mental Deficiency, Monotherapy, Mortality, Motor Development, Motor Dysfunction, Neurologic Examination, Nuclear Magnetic Resonance Imaging, Perception Deafness, Polyneuropathy, Priority Journal, Symptomatology, Syndrome Door, Tonic Clonic Seizure, Tremor, Unified Parkinson Disease Rating Scale, Craniofacial Malformation, Hand Malformation, Intellectual Impairment, Nail Disease, Pathophysiology,
Affiliations:
*** IBB - CNR ***
Department of Neurosciences and Reproductive and Odontostomatological Sciences, Federico II University, Naples, Italy.
Biostructure and Bioimaging Institute, CNR, Naples, Italy.
References:
James, A.W., Miranda, S.G., Culver, K., Hall, B.D., Golabi, M., DOOR syndrome: clinical report, literature review and discussion of natural history (2007) Am J Med Genet A, 143 A, pp. 2821-283
Rajab, A., Riaz, A., Paul, G., Al-Khusaibi, S., Chalmers, R., Patton, M.A., Further delineation of the DOOR syndrome (2000) Clin Dysmorphol, 9, pp. 247-251
Surendran, S., Michals-Matalon, K., Krywawych, S., Qazi, Q.H., Tuchman, R., Rady, P.L., DOOR syndrome: deficiency of E1 component of the 2-oxoglutarate dehydrogenase complex (2002) Am J Med Genet, 113, pp. 371-374
Gascon, G.G., Ozand, P.T., Brismar, J., Movement disorders in childhood organic acidurias. Clinical, neuroimaging, and biochemical correlations (1994) Brain Dev, 16 (SUPPL), pp. 94-103
van Bever, Y., Balemans, W., Duval, E.L., Jespers, A., Eyskens, F., van Hul, W., Exclusion of OGDH and BMP4 as candidate genes in two siblings with autosomal recessive DOOR syndrome (2007) Am J Med Genet A, 143, pp. 763-767
James, A. W., Miranda, S. G., Culver, K., Hall, B. D., Golabi, M., DOOR syndrome: clinical report, literature review and discussion of natural history (2007) Am J Med Genet A, 143 A, pp. 2821-283
Gascon, G. G., Ozand, P. T., Brismar, J., Movement disorders in childhood organic acidurias. Clinical, neuroimaging, and biochemical correlations (1994) Brain Dev, 16 (SUPPL), pp. 94-103
Parkinsonism may be part of the symptom complex of DOOR syndrome
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Parkinsonism may be part of the symptom complex of DOOR syndrome
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* Monitoring of fixture osteointegration after BAHA(R) implantation (230 views)
Audiology & Neuro Otology (ISSN: 1421-9700electronic, 1420-3030linking), 2011; 16(3): 158-163.
Impact Factor: 2.465
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* Monitoring of fixture osteointegration after BAHA(R) implantation (230 views)
Audiology & Neuro Otology (ISSN: 1421-9700electronic, 1420-3030linking), 2011; 16(3): 158-163.
Impact Factor: 2.465
View Export to BibTeX Export to EndNote
1 Records (1 excluding Abstracts).
Total impact factor: 2.465 (2.465 excluding Abstracts).
Total 5 year impact factor: 2.583 (2.583 excluding Abstracts).
Total impact factor: 2.465 (2.465 excluding Abstracts).
Total 5 year impact factor: 2.583 (2.583 excluding Abstracts).
260 views. Last view on Saturday 14 January 2023, 17:13:35
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