Zobrazeno 1 - 8
of 8
pro vyhledávání: '"Progressive spastic quadriparesis"'
Publikováno v:
European Spine Journal. 25:1098-1108
The commonly described congenital atlanto-axial dislocation and Basilar-Invagination is antero-posterior or rotational or vertical plane. However, congenital dislocation in lateral plane has received scant attention. The purpose of this manuscript is
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::db7d60c683fb92144113dd519f0da45c
https://doi.org/10.1007/s00586-015-4370-7
https://doi.org/10.1007/s00586-015-4370-7
Autor:
Nurit, Assia Batzir, Pranjali K, Bhagwat, Tanya N, Eble, Pengfei, Liu, Christine M, Eng, Sarah H, Elsea, Laurie A, Robak, Fernando, Scaglia, Alica M, Goldman, Shweta U, Dhar, Michael F, Wangler
Publikováno v:
Cold Spring Harbor Molecular Case Studies
DNM1L encodes a GTPase of the dynamin superfamily, which plays a crucial role in mitochondrial and peroxisomal fission. Pathogenic variants affecting the middle domain and the GTPase domain of DNM1L have been implicated in encephalopathy because of d
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::1edfc0a69600a253607d2c90dd99c5e6
https://pubmed.ncbi.nlm.nih.gov/30850373
https://pubmed.ncbi.nlm.nih.gov/30850373
Autor:
Atul Goel, Abhidha Shah
Publikováno v:
Journal of Clinical Neuroscience. 17:806-808
A 17-year-old male presented with progressive spastic quadriparesis and torticollis over four years. Investigations revealed unilateral enlargement of the facet of the atlas. Surgical resection of the indenting part of the facet resulted in an immedi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::10ebfbf13999ca232d9211b52c7f4c90
https://doi.org/10.1016/j.jocn.2009.07.119
https://doi.org/10.1016/j.jocn.2009.07.119
Publikováno v:
Journal of Neurology, Neurosurgery & Psychiatry. 79:1021-1021
A 65-year-old male presented with severe neck and low back pain for the past 6 months and progressive spastic quadriparesis for the past 15 days. All deep tendon reflexes were brisk except …
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::bd23fe13067d2e30fbe2cc278f00388b
https://doi.org/10.1136/jnnp.2007.127985
https://doi.org/10.1136/jnnp.2007.127985
Publikováno v:
Australian paediatric journal. 17(2)
An 8-year-old female with Down syndrome presented with progressive spastic quadriparesis. Compression of the upper cervical spinal cord was due to atlanto-axial dislocation and she died despite operative intervention. Details of clinical, radiologica
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3825955668be563861e6ba8d51067067
https://pubmed.ncbi.nlm.nih.gov/6458261
https://pubmed.ncbi.nlm.nih.gov/6458261
Autor:
Samuel E. Pitner, Gerhard H. Fromm
Publikováno v:
Archives of neurology. 9
Introduction Congenital absence of the odontoid process of the axis was first described by Robert1in 1933. Since that time, an additional 27 cases2-20have been reported. Most case reports have dealt with the orthopedic and radiological aspects of the
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cfeafabba084cfbec68b3fdfdb31df6a
https://pubmed.ncbi.nlm.nih.gov/14049403
https://pubmed.ncbi.nlm.nih.gov/14049403
Autor:
Albokhari D; Department of Pediatrics, Taibah University College of Medicine, Medina 42353, Saudi Arabia.; King Faisal Specialist Hospital and Research Center, Medina 42523, Saudi Arabia., Alharbi O; Taibah University College of Medicine, Medina 42353, Saudi Arabia., Blesson A; Department of Bone/Osteogenesis Imperfecta, Kennedy Krieger Institute, Baltimore, Maryland 21205, USA., Jain M; Department of Bone/Osteogenesis Imperfecta, Kennedy Krieger Institute, Baltimore, Maryland 21205, USA; jainm@kennedykrieger.org.; Department of Genetic Medicine, Johns Hopkins Medical Institute, Baltimore, Maryland 21205, USA.
Publikováno v:
Cold Spring Harbor molecular case studies [Cold Spring Harb Mol Case Stud] 2024 Jan 10; Vol. 9 (4). Date of Electronic Publication: 2024 Jan 10 (Print Publication: 2023).
Autor:
Assia Batzir N; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA., Bhagwat PK; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA.; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, Texas 77030, USA., Eble TN; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA., Liu P; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA.; Baylor Genetics, Houston, Texas 77021, USA., Eng CM; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA.; Baylor Genetics, Houston, Texas 77021, USA.; Texas Children's Hospital, Houston, Texas 77030, USA., Elsea SH; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA.; Baylor Genetics, Houston, Texas 77021, USA., Robak LA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA.; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, Texas 77030, USA.; Texas Children's Hospital, Houston, Texas 77030, USA., Scaglia F; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA.; Texas Children's Hospital, Houston, Texas 77030, USA.; BCM-CUHK Center of Medical Genetics, Prince of Wales Hospital, ShaTin, New Territories, Hong Kong, SAR., Goldman AM; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA., Dhar SU; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA.; Department of Medicine, Baylor College of Medicine, Houston, Texas 77030, USA., Wangler MF; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA.; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, Texas 77030, USA.; Texas Children's Hospital, Houston, Texas 77030, USA.
Publikováno v:
Cold Spring Harbor molecular case studies [Cold Spring Harb Mol Case Stud] 2019 Jun 03; Vol. 5 (3). Date of Electronic Publication: 2019 Jun 03 (Print Publication: 2019).