Search Results - "Paine, S. M. L."

Juvenile ALS with basophilic inclusions is a FUS proteinopathy with FUS mutations by BÄUMER, D, HILTON, D, PAINE, S. M. L, TURNER, M. R, LOWE, J, TALBOT, K, ANSORGE, O

“…Juvenile amyotrophic lateral sclerosis (ALS) with basophilic inclusions is a form of ALS characterized by protein deposits in motor neurons that are…”
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The neuropathological consequences of CDKL5 mutation by Paine, S. M. L., Munot, P., Carmichael, J., Das, K., Weber, M. A., Prabhakar, P., Jacques, T. S.

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Antenatal neurodevelopmental defects in ornithine transcarbamylase deficiency by Paine, S. M. L., Grünewald, S., Jacques, T. S.

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Isolated myxopapillary ependymoma of the fourth ventricle: case report and review of literature by Kumaria, A, Chan, H W, Goldspring, R J, Paine, S M L, Dow, G R

“…We report a case of isolated myxopapillary ependymoma (MPE) of the fourth ventricle. This is the thirteenth reported case of primary intracranial MPE and the…”
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Role of routine neuropathological examination for determining cause of death in sudden unexpected deaths in infancy (SUDI) by Pryce, J W, Paine, S M L, Weber, M A, Harding, B, Jacques, T S, Sebire, N J

“…Current guidelines for the investigation of sudden unexpected death in infancy (SUDI) include full neuropathological examination with recommendations for brain…”
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Characterization of a population of neural progenitor cells in the infant hippocampus by Paine, Simon M. L., Willsher, Alex R., Nicholson, Sarah L., Sebire, Neil J., Jacques, Thomas S.

“…Aims Abnormalities of the hippocampus are associated with a range of diseases in children, including epilepsy and sudden death. A population of rod cells in…”
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P20.09.A CLINICAL, PATHOLOGICAL AND MOLECULAR DISEASE CHARACTERISTICS OF DIFFUSE HEMISPHERIC GLIOMA, H3 G34-MUTANT by Le Rhun, E, Bink, A, Felsberg, J, Gramatzki, D, Brandner, S, Benhamida, J K, Wick, A, Tonn, J C, Mohme, M, Tabatabai, G, Capper, D, Snuderl, M, Razis, E, Ronellenfitsch, M, Neidert, N, Ng, H, Pohl, U, Bale, T A, Quach, S, Rieger, D, Schüller, U, Drüschler, K, Healy, E, Graham, M, Paine, S M L, Medici, V, Sievers, P, Schrimpf, D, Wick, W, Sahm, F, Reifenberger, G, von Deimling, A, Weller, M

“…Abstract BACKGROUND Diffuse hemispheric glioma, histone 3 (H3) G34-mutant, is a pediatric-type diffuse high-grade glioma newly defined in the World Health…”
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Review: Neuropathological features of unexplained sudden unexpected death in infancy: current evidence and controversies by Paine, Simon ML, Jacques, Thomas S, Sebire, Neil J

“…Sudden infant death syndrome (SIDS) is a leading cause of postneonatal infant death in the developed world. The cause of SIDS is unknown but several hypotheses…”
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Brain weight in sudden unexpected death in infancy: experience from a large single-centre cohort by Bamber, Andrew R., Paine, Simon M. L., Ridout, Deborah A., Pryce, Jeremy W., Jacques, Thomas S., Sebire, Neil J.

“…Aims Published reports of brain weight in sudden infant death syndrome (SIDS) are contradictory, although several have concluded that brain weight is increased…”
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Tubular aggregates caused by serine active site containing 1 (SERAC1) mutations in a patient with a mitochondrial encephalopathy by Wedatilake, Yehani, Plagnol, Vincent, Anderson, Glenn, Paine, Simon M. L., Clayton, Peter T., Jacques, Thomas S., Rahman, Shamima

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Genetic heterogeneity for SMARCB1, H3F3A and BRAF in a malignant childhood brain tumour: genetic-pathological correlation by Angelini, Paola, Chalker, Jane, Austin, Nicola, Hing, Sandra, Paine, Simon M.L., Mankad, Kshitij, Hargrave, Darren, Jacques, Thomas S.

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Challenges for the functional diffusion map in pediatric brain tumors by Grech-Sollars, Matthew, Saunders, Dawn E, Phipps, Kim P, Kaur, Ramneek, Paine, Simon M L, Jacques, Thomas S, Clayden, Jonathan D, Clark, Chris A

“…The functional diffusion map (fDM) has been suggested as a tool for early detection of tumor treatment efficacy. We aim to study 3 factors that could act as…”
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Isolated myxopapillary ependymoma of the fourth ventricle: case report and review of literature by Kumaria, A., Chan, H. W., Goldspring, R. J., Paine, S. M. L., Dow, G. R.

“…We report a case of isolated myxopapillary ependymoma (MPE) of the fourth ventricle. This is the thirteenth reported case of primary intracranial MPE and the…”
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Antenatal neurodevelopmental defects in ornithine transcarbamylase deficiency by Paine, S M L, Grünewald, S, Jacques, T S

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The neuropathological consequences of CDKL5 mutation by Paine, S M L, Munot, P, Carmichael, J, Das, K, Weber, M A, Prabhakar, P, Jacques, T S

Get full text