Search Results - "Grewal, Raji P"

Clinical and Genetic Analysis of a Patient with CMT4J by Peddareddygari, Leema Reddy, Grewal, Raji P

“…We report the clinical and genetic analysis of a patient with a rare form of an autosomal recessive genetic neuropathy, Charcot Marie Tooth (CMT) disease type…”
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Intrafamilial Phenotypic Variability Associated with the I1739V Mutation in the SCN9A Gene by Peddareddygari, Leema Reddy, Grewal, Raji P.

“…The SCN9A gene encodes a voltage gated sodium channel Nav1.7 in which mutations can result in a wide variety of phenotypes ranging from congenital…”
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Limb Girdle Muscular Dystrophy due to Digenic Inheritance of DES and CAPN3 Mutations by Peddareddygari, Leema Reddy, Oberoi, Kinsi, Grewal, Raji P.

“…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…”
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Clinical and Genetic Analysis of an Asian Indian Family with Charcot-Marie-Tooth Disease Type 4C by Peddareddygari, Leema Reddy, Oberoi, Kinsi, Grewal, Raji P.

“…Charcot-Marie-Tooth disease type 4C, an autosomal recessive genetic neuropathy, is caused by mutations in the SH3TC2 (SH3 domain and tetratricopeptide repeats…”
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X-Linked Dominant Scapuloperoneal Myopathy Is Due to a Mutation in the Gene Encoding Four-and-a-Half-LIM Protein 1 by Quinzii, Catarina M., Vu, Tuan H., Min, K. Christopher, Tanji, Kurenai, Barral, Sandra, Grewal, Raji P., Kattah, Andrea, Camaño, Pilir, Otaegui, David, Kunimatsu, Teruhito, Blake, David M., Wilhelmsen, Kirk C., Rowland, Lewis P., Hays, Arthur P., Bonilla, Eduardo, Hirano, Michio

“…Scapuloperoneal (SP) syndrome encompasses heterogeneous neuromuscular disorders characterized by weakness in the shoulder-girdle and peroneal muscles. In a…”
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Large expansion of the ATTCT pentanucleotide repeat in spinocerebellar ataxia type 10 by Ashizawa, Tetsuo, Matsuura, Tohru, Yamagata, Takanori, Burgess, Daniel L, Rasmussen, Astrid, Grewal, Raji P, Watase, Kei, Khajavi, Mehrdad, McCall, Alanna E, Davis, Caleb F, Zu, Lan, Achari, Madhureeta, Pulst, Stefan M, Alonso, Elisa, Noebels, Jeffrey L, Nelson, David L, Zoghbi, Huda Y

“…Spinocerebellar ataxia type 10 (SCA10; MIM 603516; refs 1,2) is an autosomal dominant disorder characterized by cerebellar ataxia and seizures. The gene SCA10…”
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Factors Affecting Phenotype Variability in a Family with CMT2B: Gender and LRSAM1 Genotype by Peddareddygari, Leema Reddy, Oberoi, Kinsi, Vellore, Jaasrini Reddy, Grewal, Raji P.

“…Charcot-Marie-Tooth disease type 2 (CMT2) is an autosomal dominant axonal neuropathy caused by mutations in various genes. The subtype CMT2B results from…”
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Congenital Insensitivity to Pain: A Case Report and Review of the Literature by Peddareddygari, Leema Reddy, Grewal, Raji P., Oberoi, Kinsi

“…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…”
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Genetic basis of lacunar stroke: a pooled analysis of individual patient data and genome-wide association studies by Traylor, Matthew, Persyn, Elodie, Tomppo, Liisa, Klasson, Sofia, Abedi, Vida, Bakker, Mark K, Torres, Nuria, Li, Linxin, Bell, Steven, Rutten-Jacobs, Loes, Tozer, Daniel J, Griessenauer, Christoph J, Zhang, Yanfei, Pedersen, Annie, Sharma, Pankaj, Jimenez-Conde, Jordi, Rundek, Tatjana, Grewal, Raji P, Lindgren, Arne, Meschia, James F, Salomaa, Veikko, Havulinna, Aki, Kourkoulis, Christina, Crawford, Katherine, Marini, Sandro, Mitchell, Braxton D, Kittner, Steven J, Rosand, Jonathan, Dichgans, Martin, Jern, Christina, Strbian, Daniel, Fernandez-Cadenas, Israel, Zand, Ramin, Ruigrok, Ynte, Rost, Natalia, Lemmens, Robin, Rothwell, Peter M, Anderson, Christopher D, Wardlaw, Joanna, Lewis, Cathryn M, Markus, Hugh S

“…The genetic basis of lacunar stroke is poorly understood, with a single locus on 16q24 identified to date. We sought to identify novel associations and provide…”
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Role of Therapeutic Plasma Exchange in Treatment of Tumefactive Multiple Sclerosis-Associated Low CD4 and CD8 Levels by Lew, Kristen, Mewada, Nishith, Ramanujam, Sahana, Hassanzadeh, Bahareh, Donahue, John E., Peddareddygari, Leema Reddy, Moser, Robert, Kososky, Charles , Grewal, Raji P.

“…We report a 35-year-old healthy male who developed central nervous system inflammatory demyelinating disease consistent with tumefactive multiple sclerosis…”
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Lance-Adams syndrome associated with cerebellar pathology by Waddell, Adam, Dirweesh, Ahmed, Ordonez, Fausto, Kososky, Charles, Reddy Peddareddygari, Leema, Grewal, Raji P

“…Lance-Adams syndrome (LAS) is an uncommon neurological disorder characterized by the development of chronic post-hypoxic myoclonus. There are relatively few…”
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Identification of Novel Mutations in Spatacsin and Apolipoprotein B Genes in a Patient with Spastic Paraplegia and Hypobetalipoproteinemia by Peddareddygari, Leema Reddy, Grewal, Raji P.

“…Complicated hereditary spastic paraplegia (HSP) presents with complex neurological and nonneurological manifestations. We report a patient with autosomal…”
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Analysis of the Interleukin-1 Receptor Antagonist Gene Variable Number Tandem Repeats in Ischemic Stroke by Peddareddygari, Leema Reddy, MD, Sen, Souvik, MD, Pahwa, Ankit, PhD, Levenstien, Mark A., PhD, Grewal, Raji P., MD

“…Background There is an increasing interest in the role of inflammatory mechanisms contributing to the development of stroke. Recent studies have reported an…”
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A Patient With Charcot-Marie-Tooth Disease Type 4C (CMT4C) Presenting With Muscle Fasciculations and Motor Neuropathy by Peddareddygari, Leema Reddy, Grewal, Raji P

“…We report an unusual patient who, at age 47 years, had presented with complaints of muscle fasciculations. After neurological examination and…”
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Somatic and Germline Instability of the ATTCT Repeat in Spinocerebellar Ataxia Type 10 by Matsuura, Tohru, Fang, Ping, Lin, Xi, Khajavi, Mehrdad, Tsuji, Kuniko, Rasmussen, Astrid, Grewal, Raji P., Achari, Madhureeta, Alonso, Maria E., Pulst, Stefan M., Zoghbi, Huda Y., Nelson, David L., Roa, Benjamin B., Ashizawa, Tetsuo

“…Spinocerebellar ataxia type 10 (SCA10) is an autosomal dominant disorder characterized by ataxia, seizures, and anticipation. It is caused by an expanded ATTCT…”
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Hyperhomocysteinemia is Associated with Aortic Atheroma Progression in Stroke/TIA Patients by Sen, Souvik, Reddy, P Leema, Grewal, Raji P, Busby, Marjorie, Chang, Patricia, Hinderliter, Alan

“…Aortic arch (AA) atheroma and AA atheroma progression are independent risk factors for recurrent vascular events in stroke/transient ischemic attack (TIA)…”
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Genetic variation at 16q24.2 is associated with small vessel stroke by Traylor, Matthew, Malik, Rainer, Nalls, Mike A., Cotlarciuc, Ioana, Radmanesh, Farid, Thorleifsson, Gudmar, Hanscombe, Ken B., Langefeld, Carl, Saleheen, Danish, Rost, Natalia S., Yet, Idil, Spector, Tim D., Bell, Jordana T., Hannon, Eilis, Mill, Jonathan, Chauhan, Ganesh, Debette, Stephanie, Bis, Joshua C., Longstreth, W.T., Ikram, M. Arfan, Launer, Lenore J., Seshadri, Sudha, Hamilton‐Bruce, Monica Anne, Jimenez‐Conde, Jordi, Cole, John W., Schmidt, Reinhold, Słowik, Agnieszka, Lemmens, Robin, Lindgren, Arne, Melander, Olle, Grewal, Raji P., Sacco, Ralph L., Rundek, Tatjana, Rexrode, Kathryn, Arnett, Donna K., Johnson, Julie A., Benavente, Oscar R., Wasssertheil‐Smoller, Sylvia, Lee, Jin‐Moo, Pulit, Sara L., Wong, Quenna, Rich, Stephen S., Bakker, Paul I.W., McArdle, Patrick F., Woo, Daniel, Anderson, Christopher D., Xu, Huichun, Heitsch, Laura, Fornage, Myriam, Jern, Christina, Stefansson, Kari, Thorsteinsdottir, Unnur, Gretarsdottir, Solveig, Lewis, Cathryn M., Sharma, Pankaj, Sudlow, Cathie L.M., Rothwell, Peter M., Boncoraglio, Giorgio B., Thijs, Vincent, Levi, Chris, Meschia, James F., Rosand, Jonathan, Kittner, Steven J., Mitchell, Braxton D., Dichgans, Martin, Worrall, Bradford B., Markus, Hugh S.

“…Objective Genome‐wide association studies (GWAS) have been successful at identifying associations with stroke and stroke subtypes, but have not yet identified…”
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Novel Titin Gene Mutation Causing Autosomal Dominant Limb-Girdle Muscular Dystrophy by Peddareddygari, Leema Reddy, Oberoi, Kinsi, Grewal, Raji P

“…We report a genotype-phenotype analysis of a family in which a titinopathy is transmitted in an autosomal dominant pattern. In this family, following…”
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Genome-Wide Association Study Meta-Analysis of Stroke in 22 000 Individuals of African Descent Identifies Novel Associations With Stroke by Keene, Keith L., Hyacinth, Hyacinth I., Bis, Joshua C., Kittner, Steven J., Mitchell, Braxton D., Cheng, Yu-Ching, Pare, Guillaume, Chong, Michael, O’Donnell, Martin, Meschia, James F., Chen, Wei-Min, Sale, Michèle M., Rich, Stephen S., Nalls, Mike A., Zonderman, Alan B., Evans, Michele K., Wilson, James G., Correa, Adolfo, Markus, Hugh S., Traylor, Matthew, Lewis, Cathryn M., Carty, Cara L., Reiner, Alexander, Haessler, Jeff, Langefeld, Carl D., Gottesman, Rebecca, Mosley, Thomas H., Woo, Daniel, Yaffe, Kristine, Liu, YongMei, Longstreth, William T., Psaty, Bruce M., Kooperberg, Charles, Lange, Leslie A., Sacco, Ralph, Rundek, Tatjana, Lee, Jin-Moo, Cruchaga, Carlos, Furie, Karen L., Arnett, Donna K., Benavente, Oscar R., Grewal, Raji P., Peddareddygari, Leema Reddy, Dichgans, Martin, Malik, Rainer, Worrall, Bradford B., Fornage, Myriam

“…BACKGROUND AND PURPOSE:Stroke is a complex disease with multiple genetic and environmental risk factors. Blacks endure a nearly 2-fold greater risk of stroke…”
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Inclusion-Body Myositis Associated with Alzheimer's Disease by Levacic, Danijela, Peddareddygari, Leema Reddy, Nochlin, David, Sharer, Leroy R., Grewal, Raji P.

“…Sporadic inclusion-body myositis (s-IBM) is a myopathy that is characterized by progressive weakness and muscle pathology demonstrating inflammation and rimmed…”
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