Pesquisa | Portal de Pesquisa da BVS Enfermagem

1.

PLPHP deficiency: clinical, genetic, biochemical, and mechanistic insights.

Johnstone, Devon L; Al-Shekaili, Hilal H; Tarailo-Graovac, Maja; Wolf, Nicole I; Ivy, Autumn S; Demarest, Scott; Roussel, Yann; Ciapaite, Jolita; van Roermund, Carlo W T; Kernohan, Kristin D; Kosuta, Ceres; Ban, Kevin; Ito, Yoko; McBride, Skye; Al-Thihli, Khalid; Abdelrahim, Rana A; Koul, Roshan; Al Futaisi, Amna; Haaxma, Charlotte A; Olson, Heather; Sigurdardottir, Laufey Yr; Arnold, Georgianne L; Gerkes, Erica H; Boon, M; Heiner-Fokkema, M Rebecca; Noble, Sandra; Bosma, Marjolein; Jans, Judith; Koolen, David A; Kamsteeg, Erik-Jan; Drögemöller, Britt; Ross, Colin J; Majewski, Jacek; Cho, Megan T; Begtrup, Amber; Wasserman, Wyeth W; Bui, Tuan; Brimble, Elise; Violante, Sara; Houten, Sander M; Wevers, Ron A; van Faassen, Martijn; Kema, Ido P; Lepage, Nathalie; Lines, Matthew A; Dyment, David A; Wanders, Ronald J A; Verhoeven-Duif, Nanda; Ekker, Marc; Boycott, Kym M.

Brain ; 142(3): 542-559, 2019 03 01.

Artigo em Inglês | MEDLINE | ID: mdl-30668673

2.

Longitudinal extensive transverse myelitis (LETM) in children: A twenty-year study from Oman.

Koul, Roshan; Alfutaisi, Amna M; Mani, Renjith; Abdel Rahim, Rana A; Sankhla, Dilip K; Al Azri, Faisal M.

Neurosciences (Riyadh) ; 22(2): 127-130, 2017 04.

Artigo em Inglês | MEDLINE | ID: mdl-28416784

3.

Whole-exome sequencing identifies mutated c12orf57 in recessive corpus callosum hypoplasia.

Akizu, Naiara; Shembesh, Nuri M; Ben-Omran, Tawfeg; Bastaki, Laila; Al-Tawari, Asma; Zaki, Maha S; Koul, Roshan; Spencer, Emily; Rosti, Rasim Ozgur; Scott, Eric; Nickerson, Elizabeth; Gabriel, Stacey; da Gente, Gilberto; Li, Jiang; Deardorff, Matthew A; Conlin, Laura K; Horton, Margaret A; Zackai, Elaine H; Sherr, Elliott H; Gleeson, Joseph G.

Am J Hum Genet ; 92(3): 392-400, 2013 Mar 07.

Artigo em Inglês | MEDLINE | ID: mdl-23453666

4.

Missense mutations in SLC25A1 are associated with congenital myasthenic syndrome type 23.

Al-Futaisi, Amna; Ahmad, Faraz; Al-Kasbi, Ghalia; Al-Thihli, Khalid; Koul, Roshan; Al-Maawali, Almundher.

Clin Genet ; 97(4): 666-667, 2020 04.

Artigo em Inglês | MEDLINE | ID: mdl-31808147

5.

Evolution of epileptic encephalopathy in an infant with non-accidental head injury.

Koul, Roshan; Poothrikovil, Rajesh; Al-Azri, Faisal; Al-Sadoon, Muna.

Neurosciences (Riyadh) ; 18(3): 264-8, 2013 Jul.

Artigo em Inglês | MEDLINE | ID: mdl-23887218

6.

Role of Inferior Vena Cava (IVC) Recanalization in Patients with Back Pain, Secondary to IVC Obstruction in Budd-Chiari Syndrome.

Kubihal, Vijay; Mukund, Amar; Pandey, Yasha; Vashistha, Chitranshu; Maiwall, Rakhi; Patidar, Yashwant; Yadav, Anil Yogendra; Koul, Roshan Lal; Sarin, Shiv Kumar.

Diagnostics (Basel) ; 13(3)2023 Jan 25.

Artigo em Inglês | MEDLINE | ID: mdl-36766542

7.

Unusual Facial Movements (Ictal Blinking, Oculogyric Crises, and Jaw Seizure) in Severe Liver Disease: A Case Series.

Koul, Roshan; Maiwall, Rakhi; Sarin, Shiv K; Bhatia, Vikram; Deshmukh, Akhil; Kumar, Chandan; Khajuria, Rahul; Rudra, Omkar S; Papneja, Sangam; Kantale, Priyanka; Pamecha, Vineyndra.

J Clin Exp Hepatol ; 13(6): 1149-1155, 2023.

Artigo em Inglês | MEDLINE | ID: mdl-37975048

8.

Chronic liver disease and hepatic encephalopathy patients with new-onset focal motor status epilepticus: Indicates herpetic encephalitis.

Koul, Roshan; Kumar, Navin M; Naheed, Darakshan; Sarin, Shiv K.

J Neurosci Rural Pract ; 13(4): 764-767, 2022.

Artigo em Inglês | MEDLINE | ID: mdl-36743766

9.

Ictal Blinking in Hepatic Encephalopathy Pre- and Post-Liver Transplant: Report of Eight Patients.

Koul, Roshan; Maiwall, Rakhi; Alam, Seema; Pamecha, Vineynder; Tevethia, Harsh Vardhan; Sarin, Shiv K.

J Neurosci Rural Pract ; 13(3): 476-482, 2022 Jul.

Artigo em Inglês | MEDLINE | ID: mdl-35971395

10.

Liver Transplantation Reverses Hepatic Myelopathy in 2 Children With Hepatitis A Infection.

Koul, Roshan; Lal, Bikrant Bihari; Pamecha, Viniyendra; Sarin, Shiv; Alam, Seema.

Child Neurol Open ; 8: 2329048X20983763, 2021.

Artigo em Inglês | MEDLINE | ID: mdl-33490305

11.

Mutation of FA2H underlies a complicated form of hereditary spastic paraplegia (SPG35).

Dick, Katherine J; Eckhardt, Matthias; Paisán-Ruiz, Coro; Alshehhi, Aisha Alkhayat; Proukakis, Christos; Sibtain, Naomi A; Maier, Helena; Sharifi, Reza; Patton, Michael A; Bashir, Wafa; Koul, Roshan; Raeburn, Sandy; Gieselmann, Volkmar; Houlden, Henry; Crosby, Andrew H.

Hum Mutat ; 31(4): E1251-60, 2010 Apr.

Artigo em Inglês | MEDLINE | ID: mdl-20104589

12.

Role of EEG in Predicting Outcome of Hepatic Encephalopathy Patients.

Koul, Roshan; Maiwall, Rakhi; Ramalingam, Archana; Kumar, Satyendra; Dhamija, Ravinder Mohan; Pamecha, Viniyendra; Sarin, Shiv Kumar.

Neurodiagn J ; 60(4): 272-288, 2020 Dec.

Artigo em Inglês | MEDLINE | ID: mdl-33207127

13.

A Novel Splice-Site Variant in SLC12A6 Causes Andermann Syndrome without Agenesis of the Corpus Callosum.

Al Shibli, Naema; Al-Maawali, Almundher; Elmanzalawy, Alaa; Al-Nabhani, Maryam; Koul, Roshan; Gabr, Ahlam; Al Murshedi, Fathiya.

J Pediatr Genet ; 9(4): 293-295, 2020 Dec.

Artigo em Inglês | MEDLINE | ID: mdl-32765936

14.

Pyridoxine-dependent seizures: 10-year follow-up of eight cases.

Koul, Roshan.

Neurol India ; 57(4): 460-3, 2009.

Artigo em Inglês | MEDLINE | ID: mdl-19770548

15.

Pattern of childhood neuronal migrational disorders in Oman.

Koul, Roshan L; Alfuitasi, Amna M; Sankhla, Dilip K; Javad, Hashim; William, Ranjan R.

Neurosciences (Riyadh) ; 14(2): 158-62, 2009 Apr.

Artigo em Inglês | MEDLINE | ID: mdl-21048602

16.

Hypsarrhythmia and triphasic waves seem to be akin(similar) age-dependent responses of the brain to different insults.

Koul, Roshan.

J Neurosci Rural Pract ; 15(1): 156-158, 2024.

Artigo em Inglês | MEDLINE | ID: mdl-38476411

17.

Pyridoxine Responsive Seizures: Beyond Aldehyde Dehydrogenase 7A1.

Koul, Roshan; Alfutaisi, Amna; Abdelrahim, Rana; Altihilli, Khalid.

J Neurosci Rural Pract ; 10(4): 613-616, 2019 Oct.

Artigo em Inglês | MEDLINE | ID: mdl-31831980

18.

Reply from the author.

Koul, Roshan.

Neurosciences (Riyadh) ; 18(4): 395, 2013 Oct.

Artigo em Inglês | MEDLINE | ID: mdl-24404658

19.

Klippel-Trenaunay-Weber syndrome with partial motor seizures and hemimegalencephaly.

Ahmed, Shakeel; Koul, Roshan; Wailey, Ahmed; Sankhala, Dilip.

Neurosciences (Riyadh) ; 13(1): 77-8, 2008 Jan.

Artigo em Inglês | MEDLINE | ID: mdl-21063293

20.

Merosin-deficient congenital muscular dystrophy in an Omani boy.

Al-Futaisi, Amna; Al-Maawali, Almundher; Almawali, Almundher; Abdwani, Raghad; Rao, Vasudev T; Javad, Hashim; Koul, Roshan.

Neurosciences (Riyadh) ; 13(3): 305-7, 2008 Jul.

Artigo em Inglês | MEDLINE | ID: mdl-21063346

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PLPHP deficiency: clinical, genetic, biochemical, and mechanistic insights.

Longitudinal extensive transverse myelitis (LETM) in children: A twenty-year study from Oman.

Whole-exome sequencing identifies mutated c12orf57 in recessive corpus callosum hypoplasia.

Missense mutations in SLC25A1 are associated with congenital myasthenic syndrome type 23.

Evolution of epileptic encephalopathy in an infant with non-accidental head injury.

Role of Inferior Vena Cava (IVC) Recanalization in Patients with Back Pain, Secondary to IVC Obstruction in Budd-Chiari Syndrome.

Unusual Facial Movements (Ictal Blinking, Oculogyric Crises, and Jaw Seizure) in Severe Liver Disease: A Case Series.

Chronic liver disease and hepatic encephalopathy patients with new-onset focal motor status epilepticus: Indicates herpetic encephalitis.

Ictal Blinking in Hepatic Encephalopathy Pre- and Post-Liver Transplant: Report of Eight Patients.

Liver Transplantation Reverses Hepatic Myelopathy in 2 Children With Hepatitis A Infection.

Mutation of FA2H underlies a complicated form of hereditary spastic paraplegia (SPG35).

Role of EEG in Predicting Outcome of Hepatic Encephalopathy Patients.

A Novel Splice-Site Variant in SLC12A6 Causes Andermann Syndrome without Agenesis of the Corpus Callosum.

Pyridoxine-dependent seizures: 10-year follow-up of eight cases.

Pattern of childhood neuronal migrational disorders in Oman.

Hypsarrhythmia and triphasic waves seem to be akin(similar) age-dependent responses of the brain to different insults.

Pyridoxine Responsive Seizures: Beyond Aldehyde Dehydrogenase 7A1.

Reply from the author.

Klippel-Trenaunay-Weber syndrome with partial motor seizures and hemimegalencephaly.

Merosin-deficient congenital muscular dystrophy in an Omani boy.