Pesquisa | Portal de Pesquisa da BVS Enfermagem

1.

Development, validation and application of single molecule molecular inversion probe based novel integrated genetic screening method for 29 common lysosomal storage disorders in India.

Sheth, Harsh; Nair, Aadhira; Bhavsar, Riddhi; Kamate, Mahesh; Gowda, Vykuntaraju K; Bavdekar, Ashish; Kadam, Sandeep; Nampoothiri, Sheela; Panigrahi, Inusha; Kaur, Anupriya; Shah, Siddharth; Mehta, Sanjeev; Jagadeesan, Sujatha; Suresh, Indrani; Kapoor, Seema; Bajaj, Shruti; Devi, Radha Rama; Prajapati, Ashka; Godbole, Koumudi; Patel, Harsh; Luhar, Zulfiqar; Shah, Raju C; Iyer, Anand; Bijarnia, Sunita; Puri, Ratna; Muranjan, Mamta; Shah, Ami; Magar, Suvarna; Gupta, Neerja; Tayade, Naresh; Gandhi, Ajit; Sowani, Ajit; Kale, Shrutikaa; Jalan, Anil; Solanki, Dhaval; Dalal, Ashwin; Mane, Shrikant; Prabha, C Ratna; Sheth, Frenny; Joshi, Chaitanya G; Joshi, Madhvi; Sheth, Jayesh.

Hum Genomics ; 18(1): 46, 2024 May 10.

Artigo em Inglês | MEDLINE | ID: mdl-38730490

2.

KCTD7-related progressive myoclonic epilepsy: Report of 42 cases and review of literature.

Yoganathan, Sangeetha; Whitney, Robyn; Thomas, Maya; Danda, Sumita; Chettali, Akbar Mohamed; Prasad, Asuri N; Farhan, Sali M K; AlSowat, Daad; Abukhaled, Musaad; Aldhalaan, Hesham; Gowda, Vykuntaraju K; Kinhal, Uddhava V; Bylappa, Arun Y; Konanki, Ramesh; Lingappa, Lokesh; Parchuri, Bindu Madhavi; Appendino, Juan P; Scantlebury, Morris H; Cunningham, Jessie; Hadjinicolaou, Aristides; El Achkar, Christelle Moufawad; Kamate, Mahesh; Menon, Ramshekhar N; Jose, Manna; Riordan, Gillian; Kannan, Lakshminarayanan; Jain, Vivek; Manokaran, Ranjith Kumar; Chau, Vann; Donner, Elizabeth J; Costain, Gregory; Minassian, Berge A; Jain, Puneet.

Epilepsia ; 65(3): 709-724, 2024 Mar.

Artigo em Inglês | MEDLINE | ID: mdl-38231304

3.

ARV1 Gene: A Novel Cause of Autosomal Recessive Cerebellar Ataxia with Elevated Alpha Fetoprotein.

Kamate, Mahesh; Basavanagowda, Thanuja.

Cerebellum ; 2023 Sep 26.

Artigo em Inglês | MEDLINE | ID: mdl-37749428

4.

Disorders of Tetrahydrobiopterin Metabolism: Experience from South India.

Ray, Somdattaa; Padmanabha, Hansashree; Gowda, Vykuntaraju K; Mahale, Rohan; Christopher, Rita; Sreedharan, Shruthy; Dhar, Debjyoti; Kamate, Mahesh; Nagappa, Madhu; Bhat, Maya; Anjanappa, Rammurthy; Arunachal, Gautham; Pooja, M; Mathuranath, P S; Chandra, S R.

Metab Brain Dis ; 37(3): 743-760, 2022 03.

Artigo em Inglês | MEDLINE | ID: mdl-34997870

5.

Clinical and genetic spectrum of 104 Indian families with central nervous system white matter abnormalities.

Kaur, Parneet; do Rosario, Michelle C; Hebbar, Malavika; Sharma, Suvasini; Kausthubham, Neethukrishna; Nair, Karthik; A, Shrikiran; Bhat Y, Ramesh; Lewis, Leslie Edward S; Nampoothiri, Sheela; Patil, Siddaramappa J; Suresh, Narayanaswami; Bijarnia Mahay, Sunita; Dua Puri, Ratna; Pai, Shivanand; Kaur, Anupriya; Kc, Rakshith; Kamath, Nutan; Bajaj, Shruti; Kumble, Ali; Shetty, Rajesh; Shenoy, Rathika; Kamate, Mahesh; Shah, Hitesh; Muranjan, Mamta N; Bl, Yatheesha; Avabratha, K Shreedhara; Subramaniam, Girish; Kadavigere, Rajagopal; Bielas, Stephanie; Girisha, Katta Mohan; Shukla, Anju.

Clin Genet ; 100(5): 542-550, 2021 11.

Artigo em Inglês | MEDLINE | ID: mdl-34302356

6.

Identification of novel variants in a large cohort of children with Tay-Sachs disease: An initiative of a multicentric task force on lysosomal storage disorders by Government of India.

Mistri, Mehul; Mehta, Sanjeev; Solanki, Dhaval; Kamate, Mahesh; Gupta, Neerja; Kabra, Madhulika; Puri, Ratna; Girisha, Katta; Hariharan, Sankar; Nampoothiri, Sheela; Sheth, Frenny; Sheth, Jayesh.

J Hum Genet ; 64(10): 985-994, 2019 Oct.

Artigo em Inglês | MEDLINE | ID: mdl-31388111

7.

Spectrum of ARSA variations in Asian Indian patients with Arylsulfatase A deficient metachromatic leukodystrophy.

Narayanan, Dhanya Lakshmi; Matta, Divya; Gupta, Neerja; Kabra, Madhulika; Ranganath, Prajnya; Aggarwal, Shagun; Phadke, Shubha R; Datar, Chaitanya; Gowrishankar, Kalpana; Kamate, Mahesh; Jain, Jamal Mohammed Nurul; Dalal, Ashwin.

J Hum Genet ; 64(4): 323-331, 2019 Apr.

Artigo em Inglês | MEDLINE | ID: mdl-30674982

8.

Identification of deletion-duplication in HEXA gene in five children with Tay-Sachs disease from India.

Sheth, Jayesh; Mistri, Mehul; Mahadevan, Lakshmi; Mehta, Sanjeev; Solanki, Dhaval; Kamate, Mahesh; Sheth, Frenny.

BMC Med Genet ; 19(1): 109, 2018 07 04.

Artigo em Inglês | MEDLINE | ID: mdl-29973161

9.

Batten disease: biochemical and molecular characterization revealing novel PPT1 and TPP1 gene mutations in Indian patients.

Sheth, Jayesh; Mistri, Mehul; Bhavsar, Riddhi; Pancholi, Dhairya; Kamate, Mahesh; Gupta, Neerja; Kabra, Madhulika; Mehta, Sanjiv; Nampoothiri, Sheela; Thakker, Arpita; Jain, Vivek; Shah, Raju; Sheth, Frenny.

BMC Neurol ; 18(1): 203, 2018 Dec 12.

Artigo em Inglês | MEDLINE | ID: mdl-30541466

10.

The impact of DocosaHexaenoic Acid supplementation during pregnancy and lactation on Neurodevelopment of the offspring in India (DHANI): trial protocol.

Khandelwal, Shweta; Swamy, M K; Patil, Kamal; Kondal, Dimple; Chaudhry, Monica; Gupta, Ruby; Divan, Gauri; Kamate, Mahesh; Ramakrishnan, Lakshmy; Bellad, Mrutyunjaya B; Gan, Anita; Kodkany, Bhalchandra S; Martorell, Reynaldo; Srinath Reddy, K; Prabhakaran, Dorairaj; Ramakrishnan, Usha; Tandon, Nikhil; Stein, Aryeh D.

BMC Pediatr ; 18(1): 261, 2018 08 04.

Artigo em Inglês | MEDLINE | ID: mdl-30077178

11.

Acute Leukoencephalopathy with Restricted Diffusion.

Kamate, Mahesh.

Indian J Crit Care Med ; 22(7): 519-523, 2018 Jul.

Artigo em Inglês | MEDLINE | ID: mdl-30111927

12.

Early-onset phenotype of bi-allelic GRN mutations.

Neuray, Caroline; Sultan, Tipu; Alvi, Javeira Raza; Franca, Marcondes C; Assmann, Birgit; Wagner, Matias; Canafoglia, Laura; Franceschetti, Silvana; Rossi, Giacomina; Santana, Isabel; Macario, Maria C; Almeida, Maria R; Kamate, Mahesh; Parikh, Sumit; Elloumi, Houda Zghal; Murphy, David; Efthymiou, Stephanie; Maroofian, Reza; Houlden, Henry.

Brain ; 144(2): e22, 2021 03 03.

Artigo em Inglês | MEDLINE | ID: mdl-33351065

13.

Defining the genetic basis of early onset hereditary spastic paraplegia using whole genome sequencing.

Kumar, Kishore R; Wali, G M; Kamate, Mahesh; Wali, Gautam; Minoche, André E; Puttick, Clare; Pinese, Mark; Gayevskiy, Velimir; Dinger, Marcel E; Roscioli, Tony; Sue, Carolyn M; Cowley, Mark J.

Neurogenetics ; 17(4): 265-270, 2016 10.

Artigo em Inglês | MEDLINE | ID: mdl-27679996

14.

Single Lysis-Salting Out Method of Genomic DNA Extraction From Dried Blood Spots.

Shaik, Muntaj; Shivanna, Devaraju Kuramkote; Kamate, Mahesh; Ab, Vedamurthy; Tp, Kruthika-Vinod.

J Clin Lab Anal ; 30(6): 1009-1012, 2016 Nov.

Artigo em Inglês | MEDLINE | ID: mdl-27074880

15.

Manganese transport disorder: novel SLC30A10 mutations and early phenotypes.

Quadri, Marialuisa; Kamate, Mahesh; Sharma, Suvasini; Olgiati, Simone; Graafland, Josja; Breedveld, Guido J; Kori, Indu; Hattiholi, Virupaxi; Jain, Puneet; Aneja, Satinder; Kumar, Atin; Gulati, Parveen; Goel, Medha; Talukdar, Bibek; Bonifati, Vincenzo.

Mov Disord ; 30(7): 996-1001, 2015 Jun.

Artigo em Inglês | MEDLINE | ID: mdl-25778823

16.

Safety of lacosamide in children with refractory partial epilepsy.

Pasha, Ismail; Kamate, Mahesh; Suresh, D K.

Saudi Pharm J ; 23(5): 556-61, 2015 Oct.

Artigo em Inglês | MEDLINE | ID: mdl-26594123

17.

GALNS mutations in Indian patients with mucopolysaccharidosis IVA.

Bidchol, Abdul Mueed; Dalal, Ashwin; Shah, Hitesh; S, Suryanarayana; Nampoothiri, Sheela; Kabra, Madhulika; Gupta, Neerja; Danda, Sumita; Gowrishankar, Kalpana; Phadke, Shubha R; Kapoor, Seema; Kamate, Mahesh; Verma, I C; Puri, Ratna Dua; Sankar, V H; Devi, A Radha Rama; Patil, S J; Ranganath, Prajnya; Jain, S Jamal Md Nurul; Agarwal, Meenal; Singh, Ankur; Mishra, Pallavi; Tamhankar, Parag M; Gopinath, Puthiya Mundyat; Nagarajaram, H A; Satyamoorthy, Kapaettu; Girisha, Katta Mohan.

Am J Med Genet A ; 164A(11): 2793-801, 2014 Nov.

Artigo em Inglês | MEDLINE | ID: mdl-25252036

18.

ADCY5-related dyskinesia.

Kamate, Mahesh; Mittal, Nishant.

Neurol India ; 66(Supplement): S141-S142, 2018.

Artigo em Inglês | MEDLINE | ID: mdl-29503338

19.

Cerebral visual impairment and effect of phase-wise stimulation strategies-An interim analysis.

Smitha, K S; Kurbet, Bhagyajyothi; Kamate, Mahesh; Veenish, Samvedya.

Indian J Ophthalmol ; 71(10): 3318-3321, 2023 10.

Artigo em Inglês | MEDLINE | ID: mdl-37787228

20.

Hyperdense lenticulostriate signor stroke following minor trauma.