Search Results - "Scherer, S S"

CMT subtypes and disease burden in patients enrolled in the Inherited Neuropathies Consortium natural history study: a cross-sectional analysis by Fridman, V, Bundy, B, Reilly, M M, Pareyson, D, Bacon, C, Burns, J, Day, J, Feely, S, Finkel, R S, Grider, T, Kirk, C A, Herrmann, D N, Laurá, M, Li, J, Lloyd, T, Sumner, C J, Muntoni, F, Piscosquito, G, Ramchandren, S, Shy, R, Siskind, C E, Yum, S W, Moroni, I, Pagliano, E, Zuchner, S, Scherer, S S, Shy, M E

“…BackgroundThe international Inherited Neuropathy Consortium (INC) was created with the goal of obtaining much needed natural history data for patients with…”
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Axonal Charcot-Marie-Tooth Disease: from Common Pathogenic Mechanisms to Emerging Treatment Opportunities by McCray, Brett A., Scherer, Steven S.

“…Inherited peripheral neuropathies are a genetically and phenotypically diverse group of disorders that lead to degeneration of peripheral neurons with…”
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Autism spectrum disorder in the genetics clinic: a review by Carter, MT, Scherer, SW

“…Autism spectrum disorders (ASDs) are a heterogeneous group of neurodevelopmental disorders affecting social communication, language and behavior. The…”
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Nodes, paranodes and neuropathies by Fehmi, Janev, Scherer, Steven S, Willison, Hugh J, Rinaldi, Simon

“…This review summarises recent evidence supporting the involvement of the specialised nodal and perinodal domains (the paranode and juxtaparanode) of myelinated…”
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Biomarker results from the AVADO phase 3 trial of first-line bevacizumab plus docetaxel for HER2-negative metastatic breast cancer by Miles, D W, de Haas, S L, Dirix, L Y, Romieu, G, Chan, A, Pivot, X, Tomczak, P, Provencher, L, Cortés, J, Delmar, P R, Scherer, S J

“…Background: Combining bevacizumab with first-line chemotherapy significantly improves progression-free survival (PFS) in HER2-negative metastatic breast cancer…”
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Neurofascin antibodies in autoimmune, genetic, and idiopathic neuropathies by Burnor, Elisabeth, Yang, Li, Zhou, Hao, Patterson, Kristina R, Quinn, Colin, Reilly, Mary M, Rossor, Alexander M, Scherer, Steven S, Lancaster, Eric

“…OBJECTIVETo measure the frequency, persistence, isoform specificity, and clinical correlates of neurofascin antibodies in patients with peripheral…”
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Gap junctions in inherited human disorders of the central nervous system by Abrams, Charles K., Scherer, Steven S.

“…CNS glia and neurons express connexins, the proteins that form gap junctions in vertebrates. We review the connexins expressed by oligodendrocytes and…”
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Molecular mechanisms of inherited demyelinating neuropathies by Scherer, Steven S., Wrabetz, Lawrence

“…The past 15 years have witnessed the identification of more than 25 genes responsible for inherited neuropathies in humans, many associated with primary…”
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Sleep Disorders, Restless Legs Syndrome, and Uremic Pruritus: Diagnosis and Treatment of Common Symptoms in Dialysis Patients by Scherer, Jennifer S., MD, Combs, Sara A., MD, MS, Brennan, Frank, MBBS

“…Maintenance dialysis patients experience a high burden of physical and emotional symptoms that directly affect their quality of life and health care…”
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Disease mechanisms in inherited neuropathies by Suter, Ueli, Scherer, Steven S

“…Inherited neuropathies are caused by dominant or recessive mutations in genes that are expressed by neurons and/or Schwann cells. In demyelinating…”
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How do mutations in GJB1 cause X-linked Charcot–Marie–Tooth disease? by Kleopa, Kleopas A, Abrams, Charles K, Scherer, Steven S

“…Abstract The X-linked form of Charcot – Marie – Tooth disease (CMT1X) is the second most common form of hereditary motor and sensory neuropathy. The clinical…”
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Renormalization of relativistic baryon chiral perturbation theory and power counting by Fuchs, T., Gegelia, J., Japaridze, G., Scherer, S.

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Cx32 and Cx47 mediate oligodendrocyte:astrocyte and oligodendrocyte:oligodendrocyte gap junction coupling by Wasseff, Sameh K, Scherer, Steven S

“…Abstract In addition to the extensive gap junction coupling between astrocytes themselves, oligodendrocytes are thought to be exclusively coupled to astrocytes…”
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A steady-state precipitation model for flowsheet simulation and its application by Rehage, H., Scherer, S., Kind, M.

“…•Steady-state precipitation model for flowsheet simulation is presented.•Experimental validation is performed by barium sulfate precipitation.•Influence of…”
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Investigations of caspr2, an autoantigen of encephalitis and neuromyotonia by Lancaster, Eric, Huijbers, Maartje G. M., Bar, Vered, Boronat, Anna, Wong, Andrew, Martinez-Hernandez, Eugenia, Wilson, Christina, Jacobs, Dina, Lai, Meizan, Walker, Russell W., Graus, Francesc, Bataller, Luis, Illa, Isabel, Markx, Sander, Strauss, Kevin A., Peles, Elior, Scherer, Steven S., Dalmau, Josep

“…Objective To report clinical and immunological investigations of contactin‐associated protein‐like 2 (Caspr2), an autoantigen of encephalitis and peripheral…”
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Peripheral neuropathy in complex inherited diseases: an approach to diagnosis by Rossor, Alexander M, Carr, Aisling S, Devine, Helen, Chandrashekar, Hoskote, Pelayo-Negro, Ana Lara, Pareyson, Davide, Shy, Michael E, Scherer, Steven S, Reilly, Mary M

“…Peripheral neuropathy is a common finding in patients with complex inherited neurological diseases and may be subclinical or a major component of the…”
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Predictive impact of rare genomic copy number variations in siblings of individuals with autism spectrum disorders by D’Abate, L., Walker, S., Yuen, R. K. C., Tammimies, K., Buchanan, J. A., Davies, R. W., Thiruvahindrapuram, B., Wei, J., Brian, J., Bryson, S. E., Dobkins, K., Howe, J., Landa, R., Leef, J., Messinger, D., Ozonoff, S., Smith, I. M., Stone, W. L., Warren, Z. E., Young, G., Zwaigenbaum, L., Scherer, S. W.

“…Identification of genetic biomarkers associated with autism spectrum disorders (ASDs) could improve recurrence prediction for families with a child with ASD…”
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Myelinated axons fail to develop properly in a genetically authentic mouse model of Charcot-Marie-Tooth disease type 2E by Lancaster, Eunjoo, Li, Jian, Hanania, Taleen, Liem, Ronald, Scheideler, Mark A., Scherer, Steven S.

“…We have analyzed a mouse model of Charcot-Marie-Tooth disease 2E (CMT2E) harboring a heterozygous p.Asn98Ser (p.N98S) Nefl mutation, whose human counterpart…”
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Intrathecal gene therapy rescues a model of demyelinating peripheral neuropathy by Kagiava, Alexia, Sargiannidou, Irene, Theophilidis, George, Karaiskos, Christos, Richter, Jan, Bashiardes, Stavros, Schiza, Natasa, Nearchou, Marianna, Christodoulou, Christina, Scherer, Steven S., Kleopa, Kleopas A.

“…Inherited demyelinating peripheral neuropathies are progressive incurable diseases without effective treatment. To develop a gene therapy approach targeting…”
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Reliability of the CMT neuropathy score (second version) in Charcot-Marie-Tooth disease by Murphy, Sinéad M., Herrmann, David N., McDermott, Michael P., Scherer, Steven S., Shy, Michael E., Reilly, Mary M., Pareyson, Davide

“…The Charcot‐Marie‐Tooth neuropathy score (CMTNS) is a reliable and valid composite score comprising symptoms, signs, and neurophysiological tests, which has…”
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