Works matching DE "COACH syndrome"

Results: 29

Palatoglossal fusion with cleft palate and hypoplasia of cerebellar vermis.

Published in:

2016

By:

Solanki, Shailesh;
Babu, M. Narendra;
Gowrishankar;
Ramesh, S.

Publication type:

Case Study

A 18p11.23-p11.31 microduplication in a boy with psychomotor delay, cerebellar vermis hypoplasia, chorioretinal coloboma, deafness and GH deficiency.

Published in:

2016

By:

Giordano, Mara;
Muratore, Valentina;
Babu, Deepak;
Meazza, Cristina;
Bozzola, Mauro

Publication type:

Case Study

Isolated Upper Eyelid Coloboma.

Published in:

Turkish Journal of Plastic Surgery, 2017, v. 25, n. 2, p. 111, doi. 10.5152/TurkJPlastSurg.2017.2120

By:

Eyüboğlu, Atilla Adnan;
Çöloğlu, Harun;
Uysal, Çağrı Ahmet;
Albayati, Abbas;
Ertaş, Nilgün Markal

Publication type:

Article

A Novel Frameshift CACNA1A Mutation Causing Episodic Ataxia Type 2.

Published in:

Cerebellum, 2018, v. 17, n. 4, p. 504, doi. 10.1007/s12311-018-0931-8

By:

Balck, Alexander;
Tunc, Sinem;
Schmitz, Johanna;
Hollstein, Ronja;
Kaiser, Frank J.;
Brüggemann, Norbert

Publication type:

Article

Date-Independent Parameters: an Innovative Method to Assess Fetal Cerebellar Vermis.

Published in:

Cerebellum, 2015, v. 14, n. 3, p. 231, doi. 10.1007/s12311-014-0632-x

By:

Lei, Ting;
Xie, Hong-Ning;
Zhu, Yun-Xiao;
Zheng, Ju;
Zhang, Fan;
Feng, Jie-Ling

Publication type:

Article

Rebound Upbeat Nystagmus After Lateral Gaze in Episodic Ataxia Type 2.

Published in:

Cerebellum, 2014, v. 13, n. 3, p. 411, doi. 10.1007/s12311-014-0547-6

By:

Kim, Hyo-Jung;
Kim, Ji-Soo;
Choi, Jae-Hwan;
Shin, Jin-Hong;
Choi, Kwang-Dong;
Zee, David

Publication type:

Article

Novel mutations in typical and atypical genetic loci through exome sequencing in autosomal recessive cerebellar ataxia families.

Published in:

Clinical Genetics, 2014, v. 86, n. 4, p. 335, doi. 10.1111/cge.12279

By:

Faruq, M.;
Narang, A.;
Kumari, R.;
Pandey, R.;
Garg, A.;
Behari, M.;
Dash, D.;
Srivastava, A.K.;
Mukerji, M.

Publication type:

Article

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

Authors' response to Letter from A. Toi: cerebellar vermis area versus perimeter.

Published in:

2015

By:

Rizzo, Giuseppe;
Pietrolucci, Maria Elena;
Mammarella, Silvia;
Dijmeli, Estelle;
Bosi, Costanza;
Arduini, Domenico

Publication type:

Letter

Raf Kinase Inhibitory Protein Down-Expression Exacerbates Hepatic Fibrosis In Vivo and In Vitro.

Published in:

Cellular Physiology & Biochemistry (Karger AG), 2016, v. 40, n. 1/2, p. 49, doi. 10.1159/000452524

By:

Huang, Quanfang;
Liang, Chunhong;
Wei, Ling;
Nie, Jinlan;
Lu, Shengjuan;
Lu, Chunyuan;
Zhuo, Lang;
Lu, Zhongpeng;
Lin, Xing

Publication type:

Article

Comparison of TGF- β , PDGF, and CTGF in hepatic fibrosis models using DMN, CCl 4 , and TAA.

Published in:

Drug & Chemical Toxicology, 2016, v. 39, n. 1, p. 111, doi. 10.3109/01480545.2015.1052143

By:

Park, Hye-Jung;
Kim, Hyeong-Geug;
Wang, Jing-Hua;
Choi, Min-Kyung;
Han, Jong-Min;
Lee, Jin-Seok;
Son, Chang-Gue

Publication type:

Article

MOLAR TOOTH SIGN - JOUBERT SYNDROME.

Published in:

Acta Medica Medianae, 2015, v. 54, n. 3, p. 74, doi. 10.5633/amm.2015.0312

By:

Ranđelović, Dušica;
Mikić-Ranđelović, Tatjana;
Laketić, Darko

Publication type:

Article

Cerebellar Vermis and Midbrain Hypoplasia Upon Conditional Deletion of Chd7 from the Embryonic Mid-Hindbrain Region.

Published in:

Frontiers in Neuroanatomy, 2017, p. 1, doi. 10.3389/fnana.2017.00086

By:

Donovan, Alex P. A.;
Tian Yu;
Ellegood, Jacob;
Riegman, Kimberley L. H.;
de Geus, Christa;
van Ravenswaaij-Arts, Conny;
Fernandes, Cathy;
Lerch, Jason P.;
Basson, M. Albert

Publication type:

Article

Familial episodic ataxia in lambs.

Published in:

New Zealand Veterinary Journal, 2013, v. 61, n. 2, p. 107, doi. 10.1080/00480169.2012.717501

By:

Mayhew, IG;
Jolly, RD;
Burnham, D;
Ridler, AL;
Poff, GJ;
Blair, HT

Publication type:

Article

Metastatic Cerebellar Gastrointestinal Stromal Tumor with Obstructive Hydrocephalus Arising from the Small Intestine: A Case Report and Review of the Literature.

Published in:

2014

By:

Kunitomo Sato;
Toshihide Tanaka;
Naoki Kato;
Takuya Ishii;
Toru Terao;
Yuichi Murayama

Publication type:

Case Study

ADCK3 mutations with epilepsy, stroke-like episodes and ataxia: a POLG mimic?

Published in:

European Journal of Neurology, 2016, v. 23, n. 7, p. 1188, doi. 10.1111/ene.13003

By:

Hikmat, O.;
Tzoulis, C.;
Knappskog, P. M.;
Johansson, S.;
Boman, H.;
Sztromwasser, P.;
Lien, E.;
Brodtkorb, E.;
Ghezzi, D.;
Bindoff, L. A.

Publication type:

Article

A Novel Homozygous SACS Mutation Identified by Whole-Exome Sequencing in a Consanguineous Family with Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay.

Published in:

Cytogenetic & Genome Research, 2017, v. 152, n. 1, p. 16, doi. 10.1159/000477428

By:

Zeng, Hui;
Tang, Jian-Guang;
Yang, Yi-Feng;
Tan, Zhi-Ping;
Tan, Jie-Qiong

Publication type:

Article

Bolivian kindred with combined spinocerebellar ataxia types 2 and 10.

Published in:

Acta Neurologica Scandinavica, 2015, v. 132, n. 2, p. 139, doi. 10.1111/ane.12371

By:

Baizabal‐Carvallo, J. F.;
Xia, G.;
Botros, P.;
Laguna, J.;
Ashizawa, T.;
Jankovic, J.

Publication type:

Article

Morphogenetic defects underlie Superior Coloboma, a newly identified closure disorder of the dorsal eye.

Published in:

PLoS Genetics, 2018, v. 14, n. 3, p. 1, doi. 10.1371/journal.pgen.1007246

By:

Hocking, Jennifer C.;
Famulski, Jakub K.;
Yoon, Kevin H.;
Widen, Sonya A.;
Bernstein, Cassidy S.;
Koch, Sophie;
Weiss, Omri;
null, null;
Agarwala, Seema;
Inbal, Adi;
Lehmann, Ordan J.;
Waskiewicz, Andrew J.

Publication type:

Article

Ataxia Telangiectasia: Case Report from a Rural Hospital in Nepal and Current Management Recommendation.

Published in:

2014

By:

George, S. M.;
Mathews, M. C.

Publication type:

Case Study

Síndrome de Joubert-Boltshauser con asociación a malformación Dandy- Walker. Reporte de dos casos.

Published in:

Revista Mexicana de Neurociencia, 2014, v. 15, n. 2, p. 112

By:

Peña-Landín, Dora Maricela;
Carmona-Vázquez, Carlos Raúl;
Medina-Crespo, Violeta;
Gómez-Garza, Gilberto;
Dávila-Gutiérrez, Guillermo

Publication type:

Article

The pledge, the turn, and the prestige of transient cerebellar alterations in SCA6.

Published in:

Journal of Physiology, 2017, v. 595, n. 3, p. 607, doi. 10.1113/JP273301

By:

Miterko, Lauren N.;
Sillitoe, Roy V.

Publication type:

Article

EP02.12: Hypoplasia of the cerebellar vermis in fetuses from 45 to 84 mm Crown-rump length.

Published in:

Ultrasound in Obstetrics & Gynecology, 2017, v. 50, p. 263, doi. 10.1002/uog.18334

By:

Altmann, R.;
Specht, C.;
Scharnreitner, I.;
Mayer, R.;
Hechenberger, C.;
Arzt, W.;
Scheier, M.A.

Publication type:

Article

EP02.16: Case of hypoplasia cerebellar vermis with dynamic ventriculomegaly change.

Published in:

Ultrasound in Obstetrics & Gynecology, 2017, v. 50, p. 264, doi. 10.1002/uog.18338

By:

Matsuoka, R.;
Sekizawa, A.

Publication type:

Article

Mono-Limb Ataxia Caused by Motor Cortical Infarction: Case Report and Review of the Literature.

Published in:

Cerebrovascular Diseases, 2013, v. 36, n. 5/6, p. 462, doi. 10.1159/000354861

By:

Kim, Bum Joon;
Lee, JuKyung;
Kim, Jong S.

Publication type:

Article

Frequency of rare recessive mutations in unexplained late onset cerebellar ataxia.

Published in:

Journal of Neurology, 2015, v. 262, n. 8, p. 1822, doi. 10.1007/s00415-015-7772-x

By:

Keogh, M.;
Steele, H.;
Douroudis, K.;
Pyle, A.;
Duff, J.;
Hussain, R.;
Smertenko, T.;
Griffin, H.;
Santibanez-Koref, M.;
Horvath, R.;
Chinnery, P.

Publication type:

Article

SÍNDROME COGNITIVO AFECTIVO CEREBELOSO, MEJORÍA CON INHIBIDOR SELECTIVO DE LA RECAPTACIÓN DE SEROTONINA.

Published in:

2022

By:

Pinel-Ríos, Javier;
Pérez-Saborido, Isabel María

Publication type:

Letter to the Editor

A cause for childhood ataxia.

Published in:

eLife, 2016, p. 1, doi. 10.7554/eLife.14523

By:

STEFFAN, JOAN S.

Publication type:

Article

An Acquired Form of Dandy-Walker Malformation with Enveloping Hemosiderin Deposits.

Published in:

2017

By:

Shiohama, Tadashi;
Ando, Ryo;
Fujii, Katsunori;
Mukai, Hiroki;
Naruke, Yuki;
Sugita, Katsuo;
Kato, Eiji;
Shimojo, Naoki

Publication type:

Case Study