Works matching DE "ORNITHINE aminotransferase deficiency"

Results: 28

Medical and patient attitude towards vaginal atrophy: the AGATA study.

Published in:

2016

By:

Palma, F.;
Della Vecchia, E.;
Cagnacci, A.

Publication type:

journal article

Ultrawide field fluorescein angiogram in a family with gyrate atrophy and foveoschisis.

Published in:

Oman Journal of Ophthalmology, 2016, v. 9, n. 2, p. 104, doi. 10.4103/0974-620X.184529

By:

Tripathy, Koushik;
Chawla, Rohan;
Sharma, Yog Raj;
Gogia, Varun

Publication type:

Article

Detection of Intragenic SMN1 Mutations in Spinal Muscular Atrophy Patients With a Single Copy of SMN1.

Published in:

Journal of Child Neurology, 2015, v. 30, n. 5, p. 558, doi. 10.1177/0883073814521297

By:

Ganji, Hamid;
Nouri, Nayereh;
Salehi, Mansoor;
Aryani, Omid;
Houshmand, Massoud;
Basiri, Keivan;
Fazel-Najafabadi, Esmat;
Sedghi, Maryam

Publication type:

Article

RARS2 mutations in a sibship with infantile spasms.

Published in:

Epilepsia (Series 4), 2016, v. 57, n. 5, p. e97, doi. 10.1111/epi.13358

By:

Ngoh, Adeline;
Bras, Jose;
Guerreiro, Rita;
Meyer, Esther;
McTague, Amy;
Dawson, Eleanor;
Mankad, Kshitij;
Gunny, Roxana;
Clayton, Peter;
Mills, Philippa B.;
Thornton, Rachel;
Lai, Ming;
Forsyth, Robert;
Kurian, Manju A.

Publication type:

Article

Multimodal imaging of foveoschisis and macular pseudohole associated with gyrate atrophy: a family report.

Published in:

2018

By:

Zhioua Braham, Imène;
Ammous, Imen;
Maalej, Rim;
Boukari, Majdi;
Mili Boussen, Ilhem;
Errais, Khalil;
Zhioua, Raja

Publication type:

journal article

Cognitive reserve moderates the impact of subcortical gray matter atrophy on neuropsychological status in multiple sclerosis.

Published in:

Multiple Sclerosis Journal, 2016, v. 22, n. 1, p. 36, doi. 10.1177/1352458515579443

By:

Modica, Claire M.;
Bergsland, Niels;
Dwyer, Michael G.;
Ramasamy, Deepa P.;
Carl, Ellen;
Zivadinov, Robert;
Benedict, Ralph H. B.

Publication type:

Article

Non-familial, spinal segmental muscular atrophy in juvenile and young subjects.

Published in:

Contact Dermatitis (01051873), 2015, v. 72, n. 3, p. 336

By:

Virmani, Vimala;
Mohan, P. K.

Publication type:

Article

Gyrate Atrophy of the Choroid and Retina With Cystoid Macular Edema and Unilateral Optic Disc Drusen.

Published in:

2015

By:

Goel, Neha;
Pooja Jain;
Arora, Supriya;
Ghosh, Basudeb;
Walton, David S.

Publication type:

Case Study

Neuronal Atrophy Early in Degenerative Ataxia Is a Compensatory Mechanism to Regulate Membrane Excitability.

Published in:

Journal of Neuroscience, 2015, v. 35, n. 32, p. 11292, doi. 10.1523/JNEUROSCI.1357-15.2015

By:

Dell'Orco, James M.;
Wasserman, Aaron H.;
Chopra, Ravi;
Ingram, Melissa A. C.;
Yuan-Shih Hu;
Singh, Vikrant;
Wulff, Heike;
Opal, Puneet;
Orr, Harry T.;
Shakkottai, Vikram G.

Publication type:

Article

Retinal Detachment Due To Gyrate Atrophy.

Published in:

2015

By:

Ayar, Orhan;
Akyürek, Nesibe;
Akdemir, Mehmet Orçun;
Yazgan, Serpil

Publication type:

Case Study

Focal CA3 hippocampal subfield atrophy following LGI1 VGKC-complex antibody limbic encephalitis.

Published in:

2017

By:

Miller, Thomas D.;
Chong, Trevor T.-J.;
Aimola Davies, Anne M.;
Ng, Tammy W. C.;
Johnson, Michael R.;
Irani, Sarosh R.;
Vincent, Angela;
Husain, Masud;
Jacob, Saiju;
Maddison, Paul;
Kennard, Christopher;
Gowland, Penny A.;
Rosenthal, Clive R.

Publication type:

journal article

Progression of subcortical atrophy and iron deposition in multiple system atrophy: a comparison between clinical subtypes.

Published in:

Journal of Neurology, 2015, v. 262, n. 8, p. 1876, doi. 10.1007/s00415-015-7785-5

By:

Lee, Jae-Hyeok;
Kim, Tae-Hyung;
Mun, Chi-Woong;
Kim, Tae-Hyoung;
Han, Yong-Hee

Publication type:

Article

Atypical multiple system atrophy is a new subtype of frontotemporal lobar degeneration: frontotemporal lobar degeneration associated with α-synuclein.

Published in:

Acta Neuropathologica, 2015, v. 130, n. 1, p. 93, doi. 10.1007/s00401-015-1442-z

By:

Aoki, Naoya;
Boyer, Philip;
Lund, Cheryl;
Lin, Wen-Lang;
Koga, Shunsuke;
Ross, Owen;
Weiner, Myron;
Lipton, Anne;
Powers, James;
White, Charles;
Dickson, Dennis

Publication type:

Article

Arginine-Restricted Therapy Resistant Bilateral Macular Edema Associated with Gyrate Atrophy.

Published in:

2015

By:

Doguizi, Sibel;
Sekeroglu, Mehmet Ali;
Anayol, Mustafa Alpaslan;
Yilmazbas, Pelin

Publication type:

Case Study

Potential role of lampalizumab for treatment of geographic atrophy.

Published in:

Clinical Ophthalmology, 2015, v. 9, p. 1049, doi. 10.2147/OPTH.S59725

By:

Rhoades, William;
Dickson, Drew;
Do, Diana V.

Publication type:

Article

Ultrawide-field fundus photography of the first reported case of gyrate atrophy from Australia.

Published in:

2014

By:

Moloney, Thomas P.;
O'Hagan, Stephen;
Lee, Lawrence

Publication type:

Case Study

Clinical Evaluation of Specific Oral Manifestations in Pediatric Patients with Ascertained versus Potential Coeliac Disease: A Cross-Sectional Study.

Published in:

Gastroenterology Research & Practice, 2014, p. 1, doi. 10.1155/2014/934159

By:

Bramanti, Ennio;
Cicciù, Marco;
Matacena, Giada;
Costa, Stefano;
Magazzù, Giuseppe

Publication type:

Article

A homozygous SIX6 mutation is associated with optic disc anomalies and macular atrophy and reduces retinal ganglion cell differentiation.

Published in:

Clinical Genetics, 2015, v. 87, n. 2, p. 192, doi. 10.1111/cge.12374

By:

Yariz, K.O.;
Sakalar, Y.B.;
Jin, X.;
Hertz, J.;
Sener, E.F.;
Akay, H.;
Özbek, M.N.;
Farooq, A.;
Goldberg, J.;
Tekin, M.

Publication type:

Article

Novel Alpha-Synuclein Oligomers Formed with the Aminochrome-Glutathione Conjugate Are Not Neurotoxic.

Published in:

Neurotoxicity Research, 2019, v. 35, n. 2, p. 432, doi. 10.1007/s12640-018-9969-0

By:

Huenchuguala, Sandro;
Sjödin, Birgitta;
Mannervik, Bengt;
Segura-Aguilar, Juan

Publication type:

Article

CrossTalk proposal: The dominant mechanism causing disuse muscle atrophy is decreased protein synthesis.

Published in:

2014

By:

Phillips, Stuart M.;
McGlory, Chris

Publication type:

Other

CrossTalk opposing view: The dominant mechanism causing disuse muscle atrophy is proteolysis.

Published in:

2014

By:

Reid, Michael B.;
Judge, Andrew R.;
Bodine, Sue C.

Publication type:

Other

Rebuttal from Michael B. Reid, Andrew R. Judge and Sue C. Bodine.

Published in:

2014

By:

Reid, Michael B.;
Judge, Andrew R.;
Bodine, Sue C.

Publication type:

Other

Right Temporal Lobe Atrophy: A Case That Initially Presented as Excessive Piety.

Published in:

Clinical Neuropsychologist, 2015, v. 29, n. 7, p. 1053, doi. 10.1080/13854046.2015.1104387

By:

Everhart, D. Erik;
Watson, Eric M.;
Bickel, Kelly L.;
Stephenson, Alexandra J.

Publication type:

Article

Differential processing of natural scenes in posterior cortical atrophy and in Alzheimer's disease, as measured with a saccade choice task.

Published in:

Frontiers in Integrative Neuroscience, 2014, v. 8, p. 1, doi. 10.3389/fnint.2014.00060

By:

Boucart, Muriel;
Calais, Gauthier;
Lenoble, Quentin;
Moroni, Christine;
Pasquier, Florence

Publication type:

Article

Distinct clinical and neuropathological features of G51D SNCA mutation cases compared with SNCA duplication and H50Q mutation.

Published in:

Molecular Neurodegeneration, 2015, v. 10, n. 1, p. 1, doi. 10.1186/s13024-015-0038-3

By:

Kiely, Aoife P.;
Helen Ling;
Asi, Yasmine T.;
Kara, Eleanna;
Proukakis, Christos;
Schapira, Anthony H.;
Morris, Huw R.;
Roberts, Helen C.;
Lubbe, Steven;
Limousin, Patricia;
Lewis, Patrick A.;
Lees, Andrew J.;
Quinn, Niall;
Hardy, John;
Love, Seth;
Revesz, Tamas;
Houlden, Henry;
Holton, Janice L.

Publication type:

Article

Oligomeric State and Thermal Stability of Apo- and Holo- Human Ornithine δ-Aminotransferase.

Published in:

Protein Journal, 2017, v. 36, n. 3, p. 174, doi. 10.1007/s10930-017-9710-5

By:

Montioli, Riccardo;
Zamparelli, Carlotta;
Borri Voltattorni, Carla;
Cellini, Barbara

Publication type:

Article

Atypical Presentation and Delayed Diagnosis of Gyrate Atrophy: Case Reports of Two Siblings.

Published in:

Beyoglu Eye Journal, 2023, v. 8, n. 4, p. 301, doi. 10.14744/bej.2023.72473

By:

Ceran, Tugce Horozoglu;
Gediz, Berrak Sekeryapan;
Sonmez, Kenan

Publication type:

Article

Hyperreflective Ganglion Cell Layer Band in Gyrate Atrophy.

Published in:

Ophthalmic Surgery, Lasers & Imaging Retina, 2024, v. 55, n. 10, p. 598, doi. 10.3928/23258160-20240528-04

By:

Sen, Ahana;
Desai, Janhavi;
Sharma, Survee;
Thounaojam, Sanatombi;
Kala, Urvashi;
Majumdar, Bristi;
Pradhan, Amrita;
Chowdhury, Ruchira;
Chattree, Surabhi;
Saurabh, Kumar;
Roy, Rupak

Publication type:

Article