Works matching DE "DYSTROPHY"

Results: 1943

Molecular mechanism of rigid spine with muscular dystrophy type 1 caused by novel mutations of selenoprotein N gene.

Published in:

Neurogenetics, 2006, v. 7, n. 3, p. 175, doi. 10.1007/s10048-006-0046-0

By:

Okamoto, Yuji;
Takashima, Hiroshi;
Higuchi, Itsuro;
Matsuyama, Wataru;
Suehara, Masahito;
Nishihira, Yasushi;
Hashiguchi, Akihiro;
Hirano, Ryuki;
Ng, Arlene;
Nakagawa, Masanori;
Izumo, Shuji;
Osame, Mitsuhiro;
Arimura, Kimiyoshi

Publication type:

Article

Structural insights into RNA recognition by the alternative-splicing regulator muscleblind-like MBNL1.

Published in:

Nature Structural & Molecular Biology, 2008, v. 15, n. 12, p. 1343, doi. 10.1038/nsmb.1519

By:

Teplova, Marianna;
Patel, Dinshaw J.

Publication type:

Article

Pharmacological and rAAV Gene Therapy Rescue of Visual Functions in a Blind Mouse Model of Leber Congenital Amaurosis.

Published in:

PLoS Medicine, 2005, v. 2, n. 11, p. 1177, doi. 10.1371/journal.pmed.0020333

By:

Batten, Matthew L.;
Imanishi, Yoshikazu;
Tu, Daniel C.;
Doan, Thuy;
Zhu, Li;
Pang, Jijing;
Glushakova, Lyudmila;
Moise, Alexander R.;
Baehr, Wolfgang;
Gelder, Russell N. Van;
Hauswirth, William W.;
Rieke, Fred;
Palczewski, Krzysztof

Publication type:

Article

Spastic paraparesis with basal ganglia changes: Infantile neuroaxonal dystrophy.

Published in:

2018

By:

Kasinathan, Ananthanarayanan;
Ahuja, Chirag K.;
Singhi, Pratibha

Publication type:

journal article

Ovarian response in preimplantation genetic testing for myotonic dystrophy type 1.

Published in:

Journal of Assisted Reproduction & Genetics, 2025, v. 42, n. 1, p. 185, doi. 10.1007/s10815-024-03324-1

By:

Sonigo, Charlotte;
Ranisavljevic, Noémie;
Guigui, Mathilde;
Anahory, Tal;
Mayeur, Anne;
Moutou, Céline;
Rongières, Catherine;
Reignier, Arnaud;
Leperlier, Florence;
Melaye, Gaelle;
Girardet, Anne;
Ray, Pierre F;
Steffann, Julie;
Pirrello, Olivier;
Grynberg, Michaël

Publication type:

Article

Preimplantation genetic testing for monogenic disorders (PGT-M) offers an alternative strategy to prevent children from being born with hereditary neurological diseases or metabolic diseases dominated by nervous system phenotypes: a retrospective study.

Published in:

Journal of Assisted Reproduction & Genetics, 2024, v. 41, n. 5, p. 1245, doi. 10.1007/s10815-024-03057-1

By:

Zou, Weiwei;
Li, Min;
Wang, Xiaolei;
Lu, Hedong;
Hao, Yan;
Chen, Dawei;
Zhu, Shasha;
Ji, Dongmei;
Zhang, Zhiguo;
Zhou, Ping;
Cao, Yunxia

Publication type:

Article

Attitude of BRCA1/2 mutation carriers towards fertility preservation, family planning and preimplantation genetic testing for primary prevention of breast and ovarian cancer in the next generation.

Published in:

Journal of Assisted Reproduction & Genetics, 2023, v. 40, n. 12, p. 2835, doi. 10.1007/s10815-023-02954-1

By:

Nahshon, Chen;
Lavie, Ofer;
Oron, Galia

Publication type:

Article

Carrier screening and PGT for an autosomal recessive monogenic disorder: insights from virtual trials.

Published in:

Journal of Assisted Reproduction & Genetics, 2022, v. 39, n. 2, p. 331, doi. 10.1007/s10815-022-02398-z

By:

Scriven, Paul N.

Publication type:

Article

Novel compound heterozygous DNAAF2 mutations cause primary ciliary dyskinesia in a Han Chinese family.

Published in:

Journal of Assisted Reproduction & Genetics, 2020, v. 37, n. 9, p. 2159, doi. 10.1007/s10815-020-01859-7

By:

Sun, Minghan;
Zhang, Yi;
JiyunYang;
Wang, Yi;
Tan, Hao;
Wang, Hailian;
Lei, Tiantian;
Li, Xiaojie;
Zhang, Xiaojian;
Xiong, Wen;
Dou, Ke;
Ma, Yongxin

Publication type:

Article

Two case reports of a novel missense mutation in the PNPLA6 gene in two siblings with chorioretinal dystrophy, hypogonadotropic hypogonadism, and cerebellar ataxia.

Published in:

Molecular Biology Reports, 2024, v. 51, n. 1, p. 1, doi. 10.1007/s11033-024-09515-4

By:

Liampas, Andreas;
Nicolaou, Paschalis;
Votsi, Christina;
Georghiou, Anthi;
Christodoulou, Kyproula;
Tanteles, George A;
Pantzaris, Marios

Publication type:

Article

Ten novel mutations in VMD2 associated with Best macular dystrophy (BMD)(Communicated by Mark H. Paalman)Online Citation: Human Mutation, Mutation in Brief #660 (2003) Online http://www.interscience.wiley.com/humanmutation/pdf/mutation/660.pdf).

Published in:

Human Mutation, 2003, v. 22, n. 5, p. 418

By:

Franziska Krämer;
Nicole Mohr;
Ulrich Kellner;
Günther Rudolph;
Bernhard H.F. Weber

Publication type:

Article

Fast microglial activation after severe traumatic brain injuries.

Published in:

International Journal of Legal Medicine, 2020, v. 134, n. 6, p. 2187, doi. 10.1007/s00414-020-02308-x

By:

Lier, Julia;
Ondruschka, Benjamin;
Bechmann, Ingo;
Dreßler, Jan

Publication type:

Article

The l-arginine/NO pathway and homoarginine are altered in Duchenne muscular dystrophy and improved by glucocorticoids.

Published in:

Amino Acids, 2015, v. 47, n. 9, p. 1853, doi. 10.1007/s00726-015-2018-x

By:

Hörster, Irina;
Weigt-Usinger, Katharina;
Carmann, Christina;
Chobanyan-Jürgens, Kristine;
Köhler, Cornelia;
Schara, Ulrike;
Kayacelebi, Arslan;
Beckmann, Bibiana;
Tsikas, Dimitrios;
Lücke, Thomas

Publication type:

Article

Histological and Ultrastructural Changes of Cardiomyocytes in Experimental Rats with Tail Thrombosis following Subplantar Application of Carrageenin.

Published in:

Medical Principles & Practice, 2007, v. 16, n. 5, p. 360, doi. 10.1159/000104809

By:

Kod'usek, Rostislav;
Jezdínský, Jaroslav;
Krajcí, Dimitrolos

Publication type:

Article

Spontaneous Keloids: A Literature Review.

Published in:

2018

By:

Jfri, Abdulhadi;
Alajmi, Ali

Publication type:

journal article

Facioscapulohumeral Muscular Dystrophy: A Multicenter Study on Hearing Function.

Published in:

Audiology & Neurotology, 2008, v. 13, n. 1, p. 1, doi. 10.1159/000107431

By:

Trevisan, Carlo P.;
Pastorello, Ebe;
Ermani, Mario;
Angelini, Corrado;
Tomelleri, Giuliano;
Tonin, Paola;
Mongini, Tiziana;
Palmucci, Laura;
Galluzzi, Giuliana;
Tupler, Rossella G.;
Marioni, Gino;
Rimini, Alessandro

Publication type:

Article

Role of IL6 -174 G/C, IL10 1082G/A and IL10 -592C/A in the pathogenesis of keratoconus and development of recurrent erosion in Ukrainian patients with lattice corneal dystrophy.

Published in:

Journal of Ophthalmology (Ukraine) / Oftalʹmologičeskij Žurnal, 2020, n. 2, p. 3, doi. 10.31288/oftalmolzh20202311

By:

L. A., Livshits;
G. I., Drozhzhyna;
A. M., Kucherenko;
O. V., Ivanovska;
T. B., Gaidamaka;
O. V., Gorodna;
K. V., Sereda

Publication type:

Article

The Clinical, Radiological and Genetic Spectrum of PLA2G6-Associated Neurodegeneration: An Experience From a Tertiary Center.

Published in:

Tremor & Other Hyperkinetic Movements, 2024, v. 14, n. 1, p. 1, doi. 10.5334/tohm.897

By:

Holla, Vikram V.;
Samim, M. M.;
Kumari, Riyanka;
Dhar, Debjyoti;
Phulpagar, Prashant;
Sriram, Neeharika;
Prasad, Shweta;
Saini, Jitender;
Kamble, Nitish;
Yadav, Ravi;
Muthusamy, Babylakshmi;
Pal, Pramod Kumar

Publication type:

Article

Axillary Artery Injury from Humeral Neck Fracture: A Rare But Disabling Traumatic Event.

Published in:

Vascular & Endovascular Surgery, 2004, v. 38, n. 2, p. 175, doi. 10.1177/153857440403800210

By:

Yagubyan, Marineh;
Panneton, Jean M.

Publication type:

Article

Skin sympathetic function in complex regional pain syndrome type 1.

Published in:

Clinical Autonomic Research, 2015, v. 25, n. 6, p. 367, doi. 10.1007/s10286-015-0314-x

By:

Poudel, Anupama;
Asahina, Masato;
Fujinuma, Yoshikatsu;
Yamanaka, Yoshitaka;
Katagiri, Akira;
Araki, Nobuyuki;
Hirano, Shigeki;
Kuwabara, Satoshi

Publication type:

Article

Gastroparesis in myotonic dystrophy 1.

Published in:

Clinical Autonomic Research, 2011, v. 21, n. 2, p. 125, doi. 10.1007/s10286-010-0097-z

By:

Haensch, Carl-Albrecht;
Wehe, J.;
Jigalin, A.;
Isenmann, S.

Publication type:

Article

Late breaking abstracts.

Published in:: Clinical Autonomic Research, 2010, v. 20, n. 1, p. 51, doi. 10.1007/s10286-010-0056-8
Publication type:: Article

Complex regional pain syndrome.

Published in:

Clinical Autonomic Research, 2005, v. 15, n. 1, p. 13, doi. 10.1007/s10286-005-0250-2

By:

Schwartzman, Robert

Publication type:

Article

Insulin-like growth factor-I analogue protects muscles of dystrophic mdx mice from contraction-mediated damage.

Published in:

Experimental Physiology, 2008, v. 93, n. 11, p. 1190, doi. 10.1113/expphysiol.2008.042838

By:

Gehrig, Stefan M.;
Ryall, James G.;
Schertzer, Jonathan D.;
Lynch, Gordon S.

Publication type:

Article

Twenty Nail Dystrophy Associated with Alopecia Areata.

Published in:

Journal of Turgut Ozal Medical Center, 2014, v. 21, n. 2, p. 160, doi. 10.7247/jtomc.2013.1447

By:

Metin, Mahmut Sami;
Kızılyel, Okan;
Elmas, Ömer Faruk;
Aktaş, Akın

Publication type:

Article

Analysis of the Phenotype Differences in Siblings with Alkaptonuria.

Published in:

Metabolites (2218-1989), 2022, v. 12, n. 10, p. 990, doi. 10.3390/metabo12100990

By:

Zatkova, Andrea;
Olsson, Birgitta;
Ranganath, Lakshminarayan R.;
Imrich, Richard

Publication type:

Article

Liver and White/Brown Fat Dystrophy Associates with Gut Microbiota and Metabolomic Alterations in 3xTg Alzheimer's Disease Mouse Model.

Published in:

Metabolites (2218-1989), 2022, v. 12, n. 4, p. N.PAG, doi. 10.3390/metabo12040278

By:

Guzzardi, Maria Angela;
La Rosa, Federica;
Campani, Daniela;
Collado, Maria Carmen;
Monleon, Daniel;
Cacciato Insilla, Andrea;
Tripodi, Maria;
Zega, Alessandro;
Dattilo, Alessia;
Brunetto, Maurizia Rossana;
Maffei, Margherita;
Bonino, Ferruccio;
Iozzo, Patricia

Publication type:

Article

Corneal Epithelial Wavefront Error as a Novel Diagnostic Marker for Epithelial Basement Membrane Dystrophy.

Published in:

Life (2075-1729), 2024, v. 14, n. 9, p. 1188, doi. 10.3390/life14091188

By:

Grauvogl, Vitus;
Mayer, Wolfgang J.;
Siedlecki, Jakob;
Mohr, Niklas;
Dirisamer, Martin;
Priglinger, Siegfried G.;
Kassumeh, Stefan;
Luft, Nikolaus

Publication type:

Article

The Co-Occurrence of 22q11.2 Deletion Syndrome and Epithelial Basement Membrane Dystrophy: A Case Report and Review of the Literature.

Published in:

Life (2075-1729), 2024, v. 14, n. 8, p. 1006, doi. 10.3390/life14081006

By:

Armentano, Marta;
Alisi, Ludovico;
Giovannetti, Francesca;
Iannucci, Valeria;
Lucchino, Luca;
Bruscolini, Alice;
Lambiase, Alessandro

Publication type:

Article

Multimodal Ophthalmic Imaging in Spinocerebellar Ataxia Type 7.

Published in:

Life (2075-1729), 2023, v. 13, n. 11, p. 2169, doi. 10.3390/life13112169

By:

Ciancimino, Chiara;
Di Pippo, Mariachiara;
Manco, Gregorio Antonio;
Romano, Silvia;
Ristori, Giovanni;
Scuderi, Gianluca;
Abdolrahimzadeh, Solmaz

Publication type:

Article

Clinical findings in early onset cone-rod dystrophy in the Standard Wire-haired Dachshund.

Published in:

Veterinary Ophthalmology, 2007, v. 10, n. 2, p. 69, doi. 10.1111/j.1463-5224.2007.00503.x

By:

Ropstad, Ernst O.;
Bjerkås, Ellen;
Narfström, Kristina

Publication type:

Article

Hair follicle dystrophy in a litter of domestic cats resembling lanceolate hair mutant mice.

Published in:

Veterinary Dermatology, 2021, v. 32, n. 1, p. 74, doi. 10.1111/vde.12925

By:

Rostaher, Ana;
Bettenay, Sonya;
Specht, Lisa;
Silva, Kathleen A.;
Bechtold, Lesley;
Chen, Jiang;
Majzoub, Monir;
Mueller, Ralf S.;
Sundberg, John P.

Publication type:

Article

Congenital Ectodermal Defect with Nail Dystrophy and Resorption of Terminal Phalanges.

Published in:: 1970
Publication type:: Proceeding

Epidermolysis Bullosa (Dowling).

Published in:: British Journal of Dermatology, 1964, v. 76, n. 11, p. 487
Publication type:: Article

EASTERN COUNTIES DERMATOLOGICAL SOCIETY.

Published in:: British Journal of Dermatology, 1963, v. 75, n. 7, p. 295, doi. 10.1111/j.1365-2133.1963.tb15689.x
Publication type:: Article

ABNORMALITIES OF THE FINGER NAILS ASSOCIATED WITH IMPAIRED PERIPHERAL BLOOD SUPPLY.

Published in:

British Journal of Dermatology, 1962, v. 74, n. 5, p. 165, doi. 10.1111/j.1365-2133.1962.tb13484.x

By:

Samman, Peter D.;
Strickland, Basil

Publication type:

Article

AN INVESTIGATION OF MONILETHRIX.

Published in:

British Journal of Dermatology, 1962, v. 74, n. 1, p. 24, doi. 10.1111/j.1365-2133.1962.tb13907.x

By:

Baker, Harvey

Publication type:

Article

ROYAL SOCIETY OF MEDICINE SECTION OF DERMATOLOGY.

Published in:: British Journal of Dermatology, 1956, v. 68, n. 10, p. 336
Publication type:: Article

CONGENITAL POIKILODERMA WITH TRAUMATIC BULLA FORMATION AND PROGRESSIVE CUTANEOUS ATROPHY.

Published in:

British Journal of Dermatology, 1954, v. 66, n. 3, p. 104, doi. 10.1111/j.1365-2133.1954.tb12598.x

By:

Kindler, Theresa

Publication type:

Article

ON ELASTASE AND THE ELASTIC DYSTROPHIES OF THE SKIN.

Published in:

British Journal of Dermatology, 1954, v. 66, n. 1, p. 16, doi. 10.1111/j.1365-2133.1954.tb12553.x

By:

Findlay, G. H.

Publication type:

Article

Monocyte IgG-Fc receptors in myotonic dystrophy.

Published in:

Clinical & Experimental Immunology, 1982, v. 49, n. 3, p. 572

By:

Banerjee, D.;
McClintock, J.;
Silver, M.M.;
Hudson, A.J.

Publication type:

Article

Ubiquilin-1 immunoreactivity is concentrated on Hirano bodies and dystrophic neurites in Alzheimer's disease brains.

Published in:

Neuropathology & Applied Neurobiology, 2013, v. 39, n. 7, p. 817, doi. 10.1111/nan.12036

By:

Satoh, J.;
Tabunoki, H.;
Ishida, T.;
Saito, Y.;
Arima, K.

Publication type:

Article

A series of Chinese patients with desminopathy associated with six novel and one reported mutations in the desmin gene.

Published in:

Neuropathology & Applied Neurobiology, 2011, v. 37, n. 3, p. 257, doi. 10.1111/j.1365-2990.2010.01112.x

By:

Hong, D.;
Wang, Z.;
Zhang, W.;
Xi, J.;
Lu, J.;
Luan, X.;
Yuan, Y.

Publication type:

Article

The myotonic dystrophy type 2 ( DM2) gene product zinc finger protein 9 (ZNF9) is associated with sarcomeres and normally localized in DM2 patients' muscles.

Published in:

Neuropathology & Applied Neurobiology, 2010, v. 36, n. 4, p. 275, doi. 10.1111/j.1365-2990.2010.01068.x

By:

Massa, R.;
Panico, M. B.;
Caldarola, S.;
Fusco, F. R.;
Sabatelli, P.;
Terracciano, C.;
Botta, A.;
Novelli, G.;
Bernardi, G.;
Loreni, F.

Publication type:

Article

In this issue.

Published in:: 2010
Publication type:: Other

Alpha motoneurone input changes in dystrophic MDX mice after sciatic nerve transection.

Published in:

Neuropathology & Applied Neurobiology, 2010, v. 36, n. 1, p. 55, doi. 10.1111/j.1365-2990.2009.01033.x

By:

Simões, G. F.;
Oliveira, A. L. R.

Publication type:

Article

Expression of late myogenic differentiation markers in sarcoplasmic masses of patients with myotonic dystrophy.

Published in:

Neuropathology & Applied Neurobiology, 2005, v. 31, n. 1, p. 45, doi. 10.1111/j.1365-2990.2004.00602.x

By:

Vattemi, G.;
Tomelleri, G.;
Filosto, M.;
Savio, C.;
Rizzuto, N.;
Tonin, P.

Publication type:

Article

Calcium homeostasis and ultrastructural studies in a patient with limb girdle muscular dystrophy type 2C.

Published in:

Neuropathology & Applied Neurobiology, 1999, v. 25, n. 3, p. 244, doi. 10.1046/j.1365-2990.1999.00169.x

By:

Hassoni;
Cullen;
Cullen

Publication type:

Article

10 Workshop: Muscle Diseases.

Published in:

Neuropathology & Applied Neurobiology, 1999, v. 25, p. 31

By:

Cabello, A.;
Navarro, C.

Publication type:

Article

Innate and adaptive immunity in patients with autoimmune polyendocrinopathy–candidiasis–ectodermal dystrophy.

Published in:

Mycoses, 2008, v. 51, n. 3, p. 228, doi. 10.1111/j.1439-0507.2007.01475.x

By:

Perniola, R.;
Congedo, M.;
Rizzo, A.;
Damiani, A. Sticchi;
Faneschi, M. L.;
Pizzolante, M.;
Lobreglio, G.

Publication type:

Article