Výsledky vyhledávání - "Kinsi Oberoi"

Akademický článek

A Novel Duplication Mutation in the Myelin Protein Zero Gene Causing Mild, Nonprogressive Demyelinating Neuropathy

Autor: Kinsi Oberoi, Alam S. Grewal, Leema Reddy Peddareddygari

Publikováno v: Case Reports in Neurology, Vol 12, Iss 2, Pp 255-259 (2020)

Mutations in the myelin protein zero (MPZ) gene can cause a variety of clinical and electrophysiological forms of genetic neuropathies including Charcot-Marie-Tooth (CMT) type 1B disease which is characterized by demyelinating features. We present a

Externí odkaz: https://doaj.org/article/78118e3cd9b84f7c98b13f274be961e9

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Akademický článek

Bruton’s Tyrosine Kinase (BTK) Inhibitors and Autoimmune Diseases: Making Sense of BTK Inhibitor Specificity Profiles and Recent Clinical Trial Successes and Failures

Autor: Garth E. Ringheim, Matthew Wampole, Kinsi Oberoi

Publikováno v: Frontiers in Immunology, Vol 12 (2021)

Clinical development of BTK kinase inhibitors for treating autoimmune diseases has lagged behind development of these drugs for treating cancers, due in part from concerns over the lack of selectivity and associated toxicity profiles of first generat

Externí odkaz: https://doaj.org/article/1d974e25811a42f398673ada2e8ac130

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Akademický článek

Limb Girdle Muscular Dystrophy due to Digenic Inheritance of DES and CAPN3 Mutations

Autor: Leema Reddy Peddareddygari, Kinsi Oberoi, Raji P. Grewal

Publikováno v: Case Reports in Neurology, Vol 10, Iss 3, Pp 272-278 (2018)

We report the clinical and genetic analysis of a 63-year-old man with progressive weakness developing over more than 20 years. Prior to his initial visit, he underwent multiple neurological and rheumatological evaluations and was treated for possible

Externí odkaz: https://doaj.org/article/db3ee622a67d4d3b984b0e07aa652faf

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Akademický článek

Clinical and Genetic Analysis of an Asian Indian Family with Charcot-Marie-Tooth Disease Type 4C

Autor: Leema Reddy Peddareddygari, Kinsi Oberoi, Raji P. Grewal

Publikováno v: Case Reports in Neurology, Vol 10, Iss 1, Pp 38-44 (2018)

Charcot-Marie-Tooth disease type 4C, an autosomal recessive genetic neuropathy, is caused by mutations in the SH3TC2 (SH3 domain and tetratricopeptide repeats 2) gene. Interestingly, although mutations in this gene have been observed in European gyps

Externí odkaz: https://doaj.org/article/9b59ed9284e54701a7dffc40316da8f6

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Akademický článek

Complicated SPG4 presenting with recurrent urinary tract infection

Autor: Kinsi Oberoi, Kabir S. Grewal, Leema Reddy Peddareddygari

Publikováno v: Journal of Community Hospital Internal Medicine Perspectives, Vol 10, Iss 4, Pp 369-370 (2020)

We present a 62-year-old woman who developed recurrent urinary tract infections in her early fifties and, after an evaluation by an infectious disease physician, was referred for a neurological consultation. Her history and neurological examination w

Externí odkaz: https://doaj.org/article/7820a312b1764487af3a73be11d7995d

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Akademický článek

Factors Affecting Phenotype Variability in a Family with CMT2B: Gender and LRSAM1 Genotype

Autor: Leema Reddy Peddareddygari, Kinsi Oberoi, Jaasrini Reddy Vellore, Raji P. Grewal

Publikováno v: Case Reports in Neurology, Vol 8, Iss 2, Pp 120-126 (2016)

Charcot-Marie-Tooth disease type 2 (CMT2) is an autosomal dominant axonal neuropathy caused by mutations in various genes. The subtype CMT2B results from missense mutations in RAB7A, member RAS oncogene family gene, whereas missense mutations in the

Externí odkaz: https://doaj.org/article/59033e0e72ba49b0bfac0c1bfa98b9c0

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Akademický článek

Congenital Insensitivity to Pain: A Case Report and Review of the Literature

Autor: Leema Reddy Peddareddygari, Kinsi Oberoi, Raji P. Grewal

Publikováno v: Case Reports in Neurological Medicine, Vol 2014 (2014)

Congenital insensitivity to pain (CIP) is a rare autosomal recessive genetic disease caused by mutations in the SCN9A gene. We report a patient with the clinical features consistent with CIP in whom we detected a novel homozygous G2755T mutation in e

Externí odkaz: https://doaj.org/article/e3ad8b8342724defb90e6d57fe3f9706

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