http://orcid.org/0000-0002-6341-6885
Citations (31)
Keep up to date with the latest research on this topic with citation updates for this article.
Read on this site (3)
Miriam Zacchia, Giovanna Capolongo, Luca Rinaldi & Giovambattista Capasso. (2018) The importance of the thick ascending limb of Henle’s loop in renal physiology and pathophysiology. International Journal of Nephrology and Renovascular Disease 11, pages 81-92.
Read now
Read now
Jeffrey D. Calhoun & Gemma L. Carvill. (2018) Unravelling the genetic architecture of autosomal recessive epilepsy in the genomic era. Journal of Neurogenetics 32:4, pages 295-312.
Read now
Read now
Muna A. Al Dhaibani, Ayman W. El-Hattab, Kathryn B. Holroyd, Jennifer Orthmann-Murphy, Valerie A. Larson, Khurram A. Siddiqui, Miklos Szolics & Nicoline Schiess. (2018) Novel mutation in the KCNJ10 gene in three siblings with seizures, ataxia and no electrolyte abnormalities. Journal of Neurogenetics 32:1, pages 1-5.
Read now
Read now
Articles from other publishers (28)
Gökce Hatipoglu Majernik & J. Peter Martin. (2023) Case Report: Gait Deterioration in a Patient with EAST (Epilepsy, Ataxia, Sensorineural Deafness, Tubulopathy) Syndrome. Journal of Intellectual Disability - Diagnosis and Treatment 11:3, pages 134-138.
Crossref
Crossref
S.G. Burd, A.V. Lebedeva, Yu.V. Rubleva, N.V. Pantina, A.V. Yurchenko, M.A. Bogomazova, I.I. Kovaleva & A.E. Karchevskaya. (2023) Epilepsy syndromes associated with hearing loss. Zhurnal nevrologii i psikhiatrii im. S.S. Korsakova 123:1, pages 28.
Crossref
Crossref
Mahesh Padmanaban & Christopher M. Gomez. 2023. Trials for Cerebellar Ataxias. Trials for Cerebellar Ataxias
209
261
.
Katie M. Beverley & Bikash R. Pattnaik. (2022) Inward rectifier potassium (Kir) channels in the retina: living our vision. American Journal of Physiology-Cell Physiology 323:3, pages C772-C782.
Crossref
Crossref
Wenkai Guo, Pengcheng Ji & Yuansheng Xie. (2022) Genetic diagnosis and treatment of hereditary renal tubular disease with hypokalemia and alkalosis. Journal of Nephrology 36:2, pages 575-591.
Crossref
Crossref
Khalid Alhasan, Cynthia D'Alessandri-Silva, Anil Mongia, Rezan Topaloglu, Velibor Tasic & Guido Filler. (2022) Young Adults With Hereditary Tubular Diseases: Practical Aspects for Adult-Focused Colleagues. Advances in Chronic Kidney Disease 29:3, pages 292-307.
Crossref
Crossref
Jacky Lo, Anna-Lena Forst, Richard Warth & Anselm A. Zdebik. (2022) EAST/SeSAME Syndrome and Beyond: The Spectrum of Kir4.1- and Kir5.1-Associated Channelopathies. Frontiers in Physiology 13.
Crossref
Crossref
Ramy M. Hanna, Rebecca S. Ahdoot, Kamyar Kalantar-Zadeh, Lena Ghobry & Ira Kurtz. (2022) Calcium Transport in the Kidney and Disease Processes. Frontiers in Endocrinology 12.
Crossref
Crossref
Marguerite Hureaux & Rosa Vargas-Poussou. 2022. Hydro Saline Metabolism. Hydro Saline Metabolism
1
43
.
Yoko SuzumotoValeria ColumbanoLuciano GervasiRosa GiuntaTeresa MattinaGabriele TrimarchiGiovanna CapolongoMariadelina SimeoniAlessandra F. PernaMiriam ZacchiaGianpiero TorielloRosa M. PollastroFrancesco RapisardaGiovambattista CapassoFrancesco Trepiccione. (2021) A case series of adult patients affected by EAST/SeSAME syndrome suggests more severe disease in subjects bearing <i>KCNJ10</i> truncating mutations. Intractable & Rare Diseases Research 10:2, pages 95-101.
Crossref
Crossref
Kinjal Bagthariya(M.P.T)Dr.Dr.. (2021) PHYSICAL THERAPY INTERVENTION FOR PATIENT WITH EAST SYNDROME- A CASE STUDY.. INTERNATIONAL JOURNAL OF SCIENTIFIC RESEARCH, pages 74-77.
Crossref
Crossref
Athanasia Warnecke & Anja Giesemann. (2021) Embryologie, Fehlbildungen und seltene Erkrankungen der
Cochlea. Laryngo-Rhino-Otologie 100:S 01, pages S1-S43.
Crossref
Crossref
Katie E. Smith, Phoebe Murphy & Daniel J. Jagger. (2020) Divergent membrane properties of mouse cochlear glial cells around hearing onset. Journal of Neuroscience Research 99:2, pages 679-698.
Crossref
Crossref
Suvorit S. Bhowmick & Anthony E. Lang. (2020) Movement Disorders and Renal Diseases. Movement Disorders Clinical Practice 7:7, pages 763-779.
Crossref
Crossref
Matias Morin, Anna-Lena Forst, Paula Pérez-Torre, Adriano Jiménez-Escrig, Verónica Barca-Tierno, Eva García-Galloway, Richard Warth, Jose Luis Lopez-Sendón Moreno & Miguel Angel Moreno-Pelayo. (2020) Novel mutations in the KCNJ10 gene associated to a distinctive ataxia, sensorineural hearing loss and spasticity clinical phenotype. neurogenetics 21:2, pages 135-143.
Crossref
Crossref
Olga Cozzolino, Federico Sicca, Emanuele Paoli, Francesco Trovato, Filippo M. Santorelli, Gian Michele Ratto & Maria Marchese. (2020) Evolution of Epileptiform Activity in Zebrafish by Statistical-Based Integration of Electrophysiology and 2-Photon Ca2+ Imaging. Cells 9:3, pages 769.
Crossref
Crossref
Apostolos Papandreou, Federica Rachele Danti, Robert Spaull, Vincenzo Leuzzi, Amy Mctague & Manju A Kurian. (2019) The expanding spectrum of movement disorders in genetic epilepsies. Developmental Medicine & Child Neurology 62:2, pages 178-191.
Crossref
Crossref
Eva-Maria Zangerl-Plessl, Muge Qile, Meye Bloothooft, Anna Stary-Weinzinger & Marcel A. G. van der Heyden. (2019) Disease Associated Mutations in KIR Proteins Linked to Aberrant Inward Rectifier Channel Trafficking. Biomolecules 9:11, pages 650.
Crossref
Crossref
Jenny van der Wijst, Hendrica Belge, René J. M. Bindels & Olivier Devuyst. (2019) Learning Physiology from Inherited Kidney Disorders. Physiological Reviews 99:3, pages 1575-1653.
Crossref
Crossref
M. Celmina, I. Micule, I. Inashkina, M. Audere, S. Kuske, J. Pereca, J. Stavusis, D. Pelnena & J. Strautmanis. (2018) EAST/SeSAME syndrome: Review of the literature and introduction of four new Latvian patients. Clinical Genetics 95:1, pages 63-78.
Crossref
Crossref
Viktoria Szuts, Janos Andras Jarabin, Nikoletta Nagy, Ferenc Otvos, Roland Nagy, Attila Nagy, Katalin Halasy, Laszlo Rovo, Marta Szell & Jozsef Geza Kiss. 2018. Ion Channels in Health and Sickness. Ion Channels in Health and Sickness.
Enes AKYÜZ, Cagla Yildiz & Fahri Akbas. (2018) Deneysel epilepsi modelinde böbrekte bulunan aquaporin4 ve aquaporin2 kanallarının gen ekspresyonları. Journal of Contemporary Medicine.
Crossref
Crossref
Francesco Nicita, Giorgio Tasca, Marta Nardella, Emanuele Bellacchio, Ilaria Camponeschi, Gessica Vasco, Tommaso Schirinzi, Enrico Bertini & Ginevra Zanni. (2018) Novel Homozygous KCNJ10 Mutation in a Patient with Non-syndromic Early-Onset Cerebellar Ataxia. The Cerebellum 17:4, pages 499-503.
Crossref
Crossref
Mariasavina Severino, Susanna Lualdi, Chiara Fiorillo, Pasquale Striano, Teresa De Toni, Silvio Peluso, Giuseppe De Michele, Andrea Rossi, Mirella Filocamo & Claudio Bruno. (2018) Unusual white matter involvement in EAST syndrome associated with novel KCNJ10 mutations. Journal of Neurology 265:6, pages 1419-1425.
Crossref
Crossref
Robert Kleta & Detlef Bockenhauer. (2018) Salt-Losing Tubulopathies in Children: What’s New, What’s Controversial?. Journal of the American Society of Nephrology 29:3, pages 727-739.
Crossref
Crossref
Baljit S. Khakh, Vahri Beaumont, Roger Cachope, Ignacio Munoz-Sanjuan, Steven A. Goldman & Rosemarie Grantyn. (2017) Unravelling and Exploiting Astrocyte Dysfunction in Huntington’s Disease. Trends in Neurosciences 40:7, pages 422-437.
Crossref
Crossref
Nico Mauri, Miriam Kleiter, Michael Leschnik, Sandra Högler, Elisabeth Dietschi, Michaela Wiedmer, Joëlle Dietrich, Diana Henke, Frank Steffen, Simone Schuller, Corinne Gurtner, Nadine Stokar-Regenscheit, Donal O’Toole, Thomas Bilzer, Christiane Herden, Anna Oevermann, Vidhya Jagannathan & Tosso Leeb. (2017)
A Missense Variant in
KCNJ10
in Belgian Shepherd Dogs Affected by Spongy Degeneration with Cerebellar Ataxia (SDCA1)
. G3 Genes|Genomes|Genetics 7:2, pages 663-669.
Crossref
Crossref
Detlef Bockenhauer & Robert Kleta. (2017) Of dogs and men. European Journal of Human Genetics 25:2, pages 161-161.
Crossref
Crossref