Zobrazeno 1 - 10 of 30 pro vyhledávání: '"T J, Walls"'
1
Congenital myasthenic syndromes: II. Syndrome attributed to abnormal interaction of acetylcholine with its receptor
Autor: Vera Bril, T. J. Walls, Andrew G. Engel, M. Zouhair Atassi, Osvaldo D. Uchitel, Alexandre Nagel
Publikováno v: Muscle & Nerve. 16:1293-1301
A 21-year-old woman had myasthenic symptoms since birth that responded poorly to anticholinesterase therapy. Tests for acetylcholine receptor (AChR) antibodies were negative. An intercostal muscle specimen was obtained to investigate the character of
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::74406eab38a2be942cb21b90887256bf
https://doi.org/10.1002/mus.880161205
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3
Congential Endplate acetylocholinesterase deficiency
Autor: C. M. Harper, T. J. Walls, Dara G. Jamieson, S. Nakano, Palmer Taylor, David O. Hutchinson, R V Groover, Andrew G. Engel, Shelley Camp, H A Peterson
Publikováno v: Brain. 116:633-653
Endplate acetylcholinesterase (AChE) consists of globular catalytic subunits attached to the basal lamina by a collagen-like tail. Different genes encode the catalytic subunit and the tail portion of the enzyme. Endplate AChE deficiency was reported
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0cac85d6ab51abed9e5e7bf22d0a6421
https://doi.org/10.1093/brain/116.3.633
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4
Multiple thoracic haemangiomas—a rare cause of spinal cord compression
Autor: T J Walls, S A Worthy, N V Todd, A Gholkar
Publikováno v: The British Journal of Radiology. 68:770-772
Benign haemangiomas are a rare cause of mediastinal masses. We present a patient with multiple thoracic wall and mediastinal haemangiomas who developed spinal cord compression as a result of extradural extension of the haemangiomas. This is a rare ca
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::449076761b0a4ea9842c95e7d4eabe15
https://doi.org/10.1259/0007-1285-68-811-770
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5
Divry-Van Bogaert syndrome in a female: relationship to Sneddon's syndrome and radiographic appearances
Autor: T. J. Walls, J. Bhattacharya, Jon Stone
Publikováno v: Neuroradiology. 43(7)
A 28-year-old woman presented with generalised livedo reticularis, dementia, epilepsy, and pyramidal and extrapyramidal signs. Multiple focal infarcts were seen on MRI. Angiography demonstrated widespread cerebromeningeal angiomatosis with multiple s
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::83a000e8c653fd873d947c4d70a8dad8
https://pubmed.ncbi.nlm.nih.gov/11512587
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6
Hereditary motor and sensory neuropathy type 1A associated with sensorineural deafness
Autor: G D Moran, T. J. Walls, Jon Stone
The most common type of hereditary motor and sensory neuropathy type 1, HMSN 1A, is caused by a duplication of the gene for peripheral myelin protein 22 (PMP 22), situated on chromosome 17p. We report on a patient with this genotype with bilateral se
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2ee8bd927db0b3635829ed4449e01a02
https://europepmc.org/articles/PMC2170246/
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7
Case report: multiple thoracic haemangiomas--a rare cause of spinal cord compression
Autor: S A, Worthy, A, Gholkar, T J, Walls, N V, Todd
Publikováno v: The British journal of radiology. 68(811)
Benign haemangiomas are a rare cause of mediastinal masses. We present a patient with multiple thoracic wall and mediastinal haemangiomas who developed spinal cord compression as a result of extradural extension of the haemangiomas. This is a rare ca
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::839dba98796e9ae15f39ac028051f161
https://pubmed.ncbi.nlm.nih.gov/7640936
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8
Malignant cerebrovascular thromboembolization by phaechromocytoma
Autor: R, Raghavan, P G, Ince, T J, Walls, A, Gholkar, J H, Dark, J B, Foster
Publikováno v: Clinical neuropathology. 14(2)
We describe an unusual case of malignant thromboembolization within the aortic arch of a 56-year-old man who presented with a stroke. The uncommon source of this malignant embolus was an adrenal phaeochromocytoma which had permeated the inferior vena
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::c8c909cc89ea6cdeb37f0cc0d89fd6ff
https://pubmed.ncbi.nlm.nih.gov/7606899
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9
Congenital myasthenic syndromes: I. Deficiency and short open-time of the acetylcholine receptor
Autor: Alexandre Nagel, Hector A. Waisburg, T. J. Walls, C. M. Harper, Andrew G. Engel
Publikováno v: Musclenerve. 16(12)
A 5.5-year-old girl had myasthenic symptoms since birth. Tests for antiacetylcholine receptor (AChR) antibodies were negative. To investigate the character of the neuromuscular transmission defect, an intercostal muscle specimen was obtained at age 2
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e64a614c546d573f391f4762c86ee2de
https://pubmed.ncbi.nlm.nih.gov/8232383
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10
Newly recognized congenital myasthenic syndrome associated with high conductance and fast closure of the acetylcholine receptor channel
Autor: T. J. Walls, Alexander Nagel, C. Michael Harper, Andrew G. Engel, Osvaldo D. Uchitel, John B. Bodensteiner
Publikováno v: Annals of neurology. 34(1)
We describe here a new congenital myasthenic syndrome associated with a kinetic abnormality of the acetylcholine receptor (AChR) channel. The propositus had poor suck and cry after birth. Subsequently, she had intermittent ocular symptoms and fatigue
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::eb880896b286f3c2b7ad611df707439a
https://pubmed.ncbi.nlm.nih.gov/7685992
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