Search Results - "Padmanabh, Hansashree"

Clinical and genetic characterisation of a large Indian congenital myasthenic syndrome cohort by Polavarapu, Kiran, Sunitha, Balaraju, Töpf, Ana, Preethish-Kumar, Veeramani, Thompson, Rachel, Vengalil, Seena, Nashi, Saraswati, Bardhan, Mainak, Sanka, Sai Bhargava, Huddar, Akshata, Unnikrishnan, Gopikrishnan, Arunachal, Gautham, Girija, Manu Santhappan, Porter, Anna, Azuma, Yoshiteru, Lorenzoni, Paulo José, Baskar, Dipti, Anjanappa, Ram Murthy, Keertipriya, Madassu, Padmanabh, Hansashree, Harikrishna, Ganaraja Valakunja, Laurie, Steve, Matalonga, Leslie, Horvath, Rita, Nalini, Atchayaram, Lochmüller, Hanns

“…Congenital myasthenic syndromes (CMS) are a rare group of inherited disorders caused by gene defects associated with the neuromuscular junction and potentially…”
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Clinical, genetic profile and disease progression of sarcoglycanopathies in a large cohort from India: high prevalence of SGCB c.544A > C by Bardhan, Mainak, Anjanappa, Ram Murthy, Polavarapu, Kiran, Preethish-Kumar, Veeramani, Vengalil, Seena, Nashi, Saraswati, Sanga, Shamita, Padmanabh, Hansashree, Valasani, Ravi Kiran, Nishadham, Vikas, Keerthipriya, Muddasu, Geetha, Thenral S., Ramprasad, Vedam, Arunachal, Gautham, Thomas, Priya Treesa, Acharya, Moulinath, Nalini, Atchayaram

“…The clinico-genetic architecture of sarcoglycanopathies in Indian patients is reported only as short series. In the present study, we aimed to investigate the…”
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Early onset LGMDR19 with unusual features related to GMPPB gene in South Indian siblings with variable phenotype by Sanka, Sai Bhargava, Vengalil, Seena, Polavarapu, Kiran, Baskar, Dipti, Nashi, Saraswati, Thomas, Aneesha, Boddu, Vijay Kumar, Menon, Deepak, Padmanabh, Hansashree, Rao, Bhoomika M, Arunachal, Gautham, Nalini, Atchayaram

“…Guanosine diphosphate mannose (GDP-mannose) pyrophosphorylase B (GMPPB) is a cytoplasmic enzyme that catalyzes the synthesis of GDP-mannose, a crucial…”
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Hereditary Sensory Polyneuropathy, Pain Insensitivity and Global Developmental Delay due to Novel Mutation in PRDM12 Gene by Saini, Arushi Gahlot, Padmanabh, Hansashree, Sahu, Jitendra Kumar, Kurth, Ingo, Voigt, Martin, Singhi, Pratibha

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Recurrent Facial Palsy and Electrophysiological Findings in Oligosymptomatic Melkersson Rosenthal Syndrome by Saini, Arushi Gahlot, Sankhyan, Naveen, Padmanabh, Hansashree, Das, Ashim, Singhi, Pratibha

“…Melkersson Rosenthal Syndrome is a rare neuro-mucocutaneous disorder characterized by the classic triad of facial swelling, recurrent facial nerve palsy and…”
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Unusual Cause of West Syndrome by Kasinathan, Ananthanarayanan, Padmanabh, Hansashree, Gupta, Kirti, Sankhyan, Naveen, Singh, Paramjeet, Singhi, Pratibha

“…Schimmelpenning-Feuerstein-Mims syndrome is a congenital neurocutaneous disorder, comprising of organoid epidermal nevus with a broad spectrum of multiorgan…”
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Subacute Sclerosing Panencephalitis presenting as Acute Cerebellar Ataxia and Brain Stem Hyperintensities by Saini, Arushi Gahlot, Sankhyan, Naveen, Padmanabh, Hansashree, Sahu, Jitendra Kumar, Vyas, Sameer, Singhi, Pratibha, Prof

“…Abstract Background Subacute sclerosing panencephalitis is a devastating neurodegenerative disease with a characteristic clinical course. Atypical…”
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Unusual Cause of West Syndrome by Kasinathan, Ananthanarayanan, Padmanabh, Hansashree, Gupta, Kirti, Sankhyan, Naveen, Singh, Paramjeet, Singhi, Pratibha

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Hereditary Sensory Polyneuropathy, Pain Insensitivity and Global Developmental Delay due to Novel Mutation in PRDM12 Gene by Saini, Arushi Gahlot, Padmanabh, Hansashree, Sahu, Jitendra Kumar, Kurth, Ingo, Voigt, Martin, Singhi, Pratibha

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