Search Results - "Chin, Steven S."

Functional Genomics Identifies Drivers of Medulloblastoma Dissemination by MUMERT, Michael, DUBUC, Adrian, XIAOCHONG WU, NORTHCOTT, Paul A, CHIN, Steven S, PEDONE, Carolyn A, TAYLOR, Michael D, FULTS, Daniel W

“…Medulloblastomas are malignant brain tumors that arise in the cerebellum in children and disseminate via the cerebrospinal fluid to the leptomeningeal spaces…”
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Proteomic identification of FHL1 as the protein mutated in human reducing body myopathy by Schessl, Joachim, Zou, Yaqun, McGrath, Meagan J, Cowling, Belinda S, Maiti, Baijayanta, Chin, Steven S, Sewry, Caroline, Battini, Roberta, Hu, Ying, Cottle, Denny L, Rosenblatt, Michael, Spruce, Lynn, Ganguly, Arupa, Kirschner, Janbernd, Judkins, Alexander R, Golden, Jeffrey A, Goebel, Hans-Hilmar, Muntoni, Francesco, Flanigan, Kevin M, Mitchell, Christina A, Bönnemann, Carsten G

“…Reducing body myopathy (RBM) is a rare disorder causing progressive muscular weakness characterized by aggresome-like inclusions in the myofibrils…”
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Clinical, histological and genetic characterization of reducing body myopathy caused by mutations in FHL1 by Schessl, Joachim, Taratuto, Ana L., Sewry, Caroline, Battini, Roberta, Chin, Steven S., Maiti, Baijayanta, Dubrovsky, Alberto L., Erro, Marcela G., Espada, Graciela, Robertella, Monica, Saccoliti, Maria, Olmos, Patricia, Bridges, Leslie R., Standring, Peter, Hu, Ying, Zou, Yaqun, Swoboda, Kathryn J., Scavina, Mena, Goebel, Hans-Hilmar, Mitchell, Christina A., Flanigan, Kevin M., Muntoni, Francesco, Bönnemann, Carsten G.

“…We recently identified the X-chromosomal four and a half LIM domain gene FHL1 as the causative gene for reducing body myopathy, a disorder characterized by…”
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Comparison of the effects of surgical dissection devices on the rabbit liver by MacDonald, Joel D., Bowers, Christian A., Chin, Steven S., Burns, Greg

“…Purpose Multiple energy-based surgical dissection and coagulation modalities are available to facilitate surgical dissection and hemostasis, but there is…”
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Signature Tau Neuropathology in Gray and White Matter of Corticobasal Degeneration by Forman, Mark S., Zhukareva, Victoria, Bergeron, Catherine, Chin, Steven S.-M., Grossman, Murray, Clark, Chris, Lee, Virginia M.-Y., Trojanowski, John Q.

“…Corticobasal degeneration (CBD) is an adult-onset progressive neurodegenerative disorder characterized by l-dopa-resistant rigidity, focal cortical deficits,…”
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Corticobasal Syndrome with TAR Binding Protein 43–Positive Oligodendrocyte Inclusions by Goldman, James E., Rippon, Gregory A., Chin, Steven S., Marder, Karen

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Temporally Regulated Neural Crest Transcription Factors Distinguish Neuroectodermal Tumors of Varying Malignancy and Differentiation by Gershon, Timothy R., Oppenheimer, Orit, Chin, Steven S., Gerald, William L.

“…Neuroectodermal tumor cells, like neural crest (NC) cells, are pluripotent, proliferative, and migratory. We tested the hypothesis that genetic programs…”
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Glial Inclusions in CNS Degenerative Diseases by -M. Chin, Steven S, Goldman, James E

“…Keywords: Astrocyte, Glial inclusions, Heat shock proteins, Neurodegenerative diseases, Oligodendrocyte, Tau…”
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Malignant transformation of conus medullaris ganglioglioma: case report by Amini, Amin, Chin, Steven S, Schmidt, Meic H

“…Intramedullary gangliogliomas are indolent tumors of the spine with rare cases of malignant transformation. Conus medullaris gangliogliomas are extremely rare…”
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Isolated Third Nerve Palsy as the Initial Manifestation of a Large Clival Chordoma by Pellerano, Fernando M., Messilaty, Mariel S., Chin, Steven S., Parnes, Gregory J., Akbar, Nadeem A., Agarwal, Vijay, Mbekeani, Joyce N.

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Reducing bodies and myofibrillar myopathy features in FHL1 muscular dystrophy by SELCEN, Duygu, BROMBERG, Mark B, CHIN, Steven S, ENGEL, Andrew G

“…Some pathologic features of the FHL1 myopathies and the myofibrillar myopathies (MFMs) overlap; we therefore searched for mutations in FHL1 in our cohort of 50…”
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Extraneural metastatic medulloblastoma in an adult by WENDLAND, Merideth M, SHRIEVE, Dennis C, WATSON, Gordon A, CHIN, Steven S, BLUMENTHAL, Deborah T

“…Medulloblastoma is a rare malignancy in adults, accounting for approximately 1% of all primary brain tumors. Extraneural metastases have been reported in…”
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Capillary telangiectasias: clinical, radiographic, and histopathological features: Clinical article by SAYAMA, Christina M, OSBORN, Anne G, CHIN, Steven S, COULDWELL, William T

“…Brain capillary telangiectasias (BCTs) are small, clinically benign, angiographically occult lesions that are usually incidental findings. Large capillary…”
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Extranodal NK/T-cell lymphoma presenting as a pituitary mass : Case report and review of the literature by LIU, James K, SAYAMA, Christina, CHIN, Steven S, COULDWELL, William T

“…Primary pituitary lymphomas (PPLs) are rare tumors of the central nervous system, and most are of B-cell origin. Extranodal NK/T-cell lymphomas are uncommon…”
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Rectal Biopsy in the Diagnosis of Neuronal Intranuclear Hyaline Inclusion Disease by Kulikova-Schupak, Romana, Knupp, Kelly G., Pascual, Juan M., Chin, Steven S., Kairam, Ram, Patterson, Marc C.

“…Neuronal intranuclear hyaline inclusion disease is a neurodegenerative disorder of childhood characterized by eosinophilic intranuclear inclusions and neuronal…”
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Unusual Findings in Brain Biopsies of Two Patients with Acute Magnetic Resonance Imaging Lesions Associated with Focal Seizures by McClelland, Shearwood, Libien, Jenny M., Chin, Steven S., Adams, David J., Resor, Stanley R., Chan, Stephen, Goodman, Robert R.

“…Purpose: Patients with focal seizures often have magnetic resonance imaging (MRI) abnormalities in the brain region of their presumed seizure focus. Neoplasms,…”
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The natural history of CADASIL: a pooled analysis of previously published cases by Desmond, D W, Moroney, J T, Lynch, T, Chan, S, Chin, S S, Mohr, J P

“…Although numerous families with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) have been reported, our…”
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Giant necrotic pituitary apoplexy by Fanous, Andrew A, Quigley, Edward P, Chin, Steven S, Couldwell, William T

“…Abstract Apoplexy of the pituitary gland is a rare complication of pituitary adenomas, involving hemorrhage with or without necrosis within the tumor. This…”
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Neuroradiologic characteristics of astroblastoma by BELL, John W, OSBORN, Anne G, SALZMAN, Karen L, BLASER, Susan I, JONES, Blaise V, CHIN, Steven S

“…Astroblastoma is a rare glial tumor of uncertain origin. Only a few scattered case reports and one small case series have described the radiologic appearance…”
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Malignant peripheral nerve sheath tumour of the trigeminal nerve: case report and literature review by Bowers, Christian A., Taussky, Philipp, Duhon, Bradley S., Chin, Steven S., Couldwell, William T.

“…Although all trigeminal nerve schwannomas are uncommon, malignant schwannomas are extraordinarily rare. We describe a patient who presented with clinical and…”
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