Works by do Rosario, Michelle

Results: 7

Further evidence of muscle involvement in neurodevelopmental disorder with epilepsy, spasticity, and brain atrophy.

Published in:

Annals of Human Genetics, 2022, v. 86, n. 2, p. 94, doi. 10.1111/ahg.12452

By:

Majethia, Purvi;
Do Rosario, Michelle C.;
Kaur, Parneet;
Karanvir;
Shankar, Raagul;
Sharma, Suvasini;
Siddiqui, Shahyan;
Shukla, Anju

Publication type:

Article

Neuroimaging to Genotype: Delineating the Spectrum of Disorders With Deficient Myelination in the Indian Population.

Published in:

American Journal of Medical Genetics. Part A, 2025, v. 197, n. 3, p. 1, doi. 10.1002/ajmg.a.63914

By:

Kaur, Namanpreet;
do Rosario, Michelle C.;
Majethia, Purvi;
Mascarenhas, Selinda;
Rao, Lakshmi Priya;
Nair, Karthik Vijay;
Hunakunti, Bhagesh;
Prasannakumar, Adarsh Pooradan;
Naik, Rohit;
Narayanan, Dhanya Lakshmi;
Nayak, Shalini S.;
Bhat, Vivekananda;
Sharma, Suvasini;
Ramesh Bhat, Y.;
Yatheesha, B. L.;
Kulkarni, Rajesh;
Patil, Siddaramappa J.;
Nampoothiri, Sheela;
Siddiqui, Shahyan;
Girisha, Katta Mohan

Publication type:

Article

c.202_204del in NUP214 causes late onset form of febrile encephalopathy.

Published in:

American Journal of Medical Genetics. Part A, 2024, v. 194, n. 5, p. 1, doi. 10.1002/ajmg.a.63529

By:

Farooqui, Sheeba;
Narayanan, Dhanya Lakshmi;
Mascarenhas, Selinda;
do Rosario, Michelle C.;
Nair, Karthik Vijay;
Periyasamy, Radhakrishnan;
Shukla, Anju

Publication type:

Article

Developmental delay and assessment in an infant with PCWH syndrome: A case report.

Published in:

Annals of Movement Disorders, 2023, v. 6, n. 2, p. 96, doi. 10.4103/aomd.aomd_34_22

By:

Kumar, Ashna;
do Rosario, Michelle;
Siddiqui, Shahyan;
Garg, Divyani;
Shukla, Anju;
Sharma, Suvasini

Publication type:

Article

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

Published in:

Clinical Genetics, 2021, v. 100, n. 5, p. 542, doi. 10.1111/cge.14037

By:

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

Publication type:

Article

Genetic disorders with central nervous system white matter abnormalities: An update.

Published in:

Clinical Genetics, 2021, v. 99, n. 1, p. 119, doi. 10.1111/cge.13863

By:

Shukla, Anju;
Kaur, Parneet;
Narayanan, Dhanya Lakshmi;
do Rosario, Michelle C.;
Kadavigere, Rajagopal;
Girisha, Katta Mohan

Publication type:

Article

Variants in the zinc transporter TMEM163 cause a hypomyelinating leukodystrophy.

Published in:

Brain: A Journal of Neurology, 2022, v. 145, n. 12, p. 4202, doi. 10.1093/brain/awac295

By:

Rosario, Michelle C do;
Bey, Guillermo Rodriguez;
Nmezi, Bruce;
Liu, Fang;
Oranburg, Talia;
Cohen, Ana S A;
Coffman, Keith A;
Brown, Maya R;
Kiselyov, Kirill;
Waisfisz, Quinten;
Flohil, Myrthe T;
Siddiqui, Shahyan;
Rosenfeld, Jill A;
Iglesias, Alejandro;
Girisha, Katta Mohan;
Wolf, Nicole I;
Padiath, Quasar Saleem;
Shukla, Anju

Publication type:

Article