Works matching DE "PELIZAEUS-merzbacher disease"

Results: 45

Curcumin therapy in a Plp1 transgenic mouse model of Pelizaeus-Merzbacher disease.

Published in:

Annals of Clinical & Translational Neurology, 2015, v. 2, n. 8, p. 787, doi. 10.1002/acn3.219

By:

Epplen, Dirk B.;
Prukop, Thomas;
Nientiedt, Tobias;
Albrecht, Philipp;
Arlt, Friederike A.;
Stassart, Ruth M.;
Kassmann, Celia M.;
Methner, Axel;
Nave, Klaus‐Armin;
Werner, Hauke B.;
Sereda, Michael W.

Publication type:

Article

Oxidative stress and mitochondrial dynamics malfunction are linked in Pelizaeus‐Merzbacher disease.

Published in:

Brain Pathology, 2018, v. 28, n. 5, p. 611, doi. 10.1111/bpa.12571

By:

Ruiz, Montserrat;
Bégou, Mélina;
Launay, Nathalie;
Ranea‐Robles, Pablo;
Bianchi, Patrizia;
López‐Erauskin, Jone;
Morató, Laia;
Guilera, Cristina;
Petit, Bérengère;
Vaurs‐Barriere, Catherine;
Guéret‐Gonthier, Céline;
Bonnet‐Dupeyron, Marie‐Noëlle;
Fourcade, Stéphane;
Auwerx, Johan;
Boespflug‐Tanguy, Odile;
Pujol, Aurora

Publication type:

Article

Therapy of Pelizaeus-Merzbacher disease in mice by feeding a cholesterol-enriched diet.

Published in:

Nature Medicine, 2012, v. 18, n. 7, p. 1130, doi. 10.1038/nm.2833

By:

Saher, Gesine;
Rudolphi, Fabian;
Corthals, Kristina;
Ruhwedel, Torben;
Schmidt, Karl-Friedrich;
Löwel, Siegrid;
Dibaj, Payam;
Barrette, Benoit;
Möbius, Wiebke;
Nave, Klaus-Armin

Publication type:

Article

Deep intronic deletion in intron 3 of PLP1 is associated with a severe phenotype of Pelizaeus-Merzbacher disease.

Published in:

Human Genome Variation, 2021, v. 8, n. 1, p. 1, doi. 10.1038/s41439-021-00144-y

By:

Yamamoto-Shimojima, Keiko;
Akagawa, Hiroyuki;
Yanagi, Kumiko;
Kaname, Tadashi;
Okamoto, Nobuhiko;
Yamamoto, Toshiyuki

Publication type:

Article

Potential for Cell-Mediated Immune Responses in Mouse Models of Pelizaeus-Merzbacher Disease.

Published in:

Brain Sciences (2076-3425), 2013, v. 3, n. 4, p. 1417, doi. 10.3390/brainsci3041417

By:

Southwood, Cherie M.;
Fykkolodziej, Bozena;
Dachet, Fabien;
Gow, Alexander

Publication type:

Article

General anesthesia for an adolescent with Pelizaeus-Merzbacher disease - A case report -.

Published in:

Anesthesia & Pain Medicine, 2019, v. 14, n. 1, p. 44, doi. 10.17085/apm.2019.14.1.44

By:

Hyuckgoo Kim;
Chaeseok Lim

Publication type:

Article

Restoration of the Normal Splicing Pattern of the <i>PLP1</i> Gene by Means of an Antisense Oligonucleotide Directed against an Exonic Mutation.

Published in:

PLoS ONE, 2013, v. 8, n. 9, p. 1, doi. 10.1371/journal.pone.0073633

By:

Regis, Stefano;
Corsolini, Fabio;
Grossi, Serena;
Tappino, Barbara;
Cooper, David N.;
Filocamo, Mirella

Publication type:

Article

R131: Auditory Testing Profiles of Pelizaeus‐Merzbacher Disease.

Published in:

2006

By:

Zuliani, Giancarlo F;
Roeder, Diane;
Garbern, James;
Gow, Alexander;
Coticchia, James M

Publication type:

Abstract

Brain atrophy in Pelizaeus-Merzbacher disease.

Published in:

2016

By:

Inoue, Ken

Publication type:

journal article

Time-course of myelination and atrophy on cerebral imaging in 35 patients with PLP1-related disorders.

Published in:

2016

By:

Sarret, Catherine;
Lemaire, Jean‐Jacques;
Tonduti, Davide;
Sontheimer, Anna;
Coste, Jerome;
Pereira, Bruno;
Feschet, Fabien;
Roche, Basile;
Boespflug‐Tanguy, Odile

Publication type:

journal article

Correction to: Exome sequencing reveals a novel PLP1 mutation in a Moroccan family with connatal Pelizaeus-Merzbacher disease: a case report.

Published in:

2018

By:

Lyahyai, Jaber;
Bencheikh, Bouchra Ouled Amar;
Elalaoui, Siham C.;
Mansouri, Maria;
Boualla, Lamia;
DIonne-Laporte, Alexandre;
Spiegelman, Dan;
Dion, Patrick A.;
Cossette, Patrick;
Rouleau, Guy A.;
Sefiani, Abdelaziz

Publication type:

journal article

Exome sequencing reveals a novel PLP1 mutation in a Moroccan family with connatal Pelizaeus-Merzbacher disease: a case report.

Published in:

2018

By:

Lyahyai, Jaber;
Oulad Amar Bencheikh, Bouchra;
Elalaoui, Siham C.;
Mansouri, Maria;
Boualla, Lamia;
DIonne-Laporte, Alexandre;
Spiegelman, Dan;
Dion, Patrick A.;
Cossette, Patrick;
Rouleau, Guy A.;
Sefiani, Abdelaziz;
Ouled Amar Bencheikh, Bouchra

Publication type:

journal article

Altered high-energy phosphate and membrane metabolism in Pelizaeus-Merzbacher disease using phosphorus magnetic resonance spectroscopy.

Published in:

Brain Communications, 2022, v. 4, n. 4, p. 1, doi. 10.1093/braincomms/fcac202

By:

Laukka, Jeremy J.;
Kain, Kevin M.;
Rathnam, Anirudha S.;
Sohi, Jasloveleen;
Khatib, Dalal;
Kamholz, John;
Stanley, Jeffrey A.

Publication type:

Article

An emerging phenotype of Xq22 microdeletions in females with severe intellectual disability, hypotonia and behavioral abnormalities.

Published in:

Journal of Human Genetics, 2014, v. 59, n. 6, p. 300, doi. 10.1038/jhg.2014.21

By:

Yamamoto, Toshiyuki;
Wilsdon, Anna;
Joss, Shelagh;
Isidor, Bertrand;
Erlandsson, Anna;
Suri, Mohnish;
Sangu, Noriko;
Shimada, Shino;
Shimojima, Keiko;
Le Caignec, Cédric;
Samuelsson, Lena;
Stefanova, Margarita

Publication type:

Article

Patient-derived iPS cells for unveiling the molecular pathology of Pelizaeus-Merzbacher disease: a commentary on 'Reduced PLP1 expression in induced pluripotent stem cells derived from a Pelizaeus-Merzbacher disease patient with a partial PLP1 duplication'

Published in:

Journal of Human Genetics, 2012, v. 57, n. 9, p. 553, doi. 10.1038/jhg.2012.85

By:

Inoue, Ken

Publication type:

Article

Reduced PLP1 expression in induced pluripotent stem cells derived from a Pelizaeus-Merzbacher disease patient with a partial PLP1 duplication.

Published in:

Journal of Human Genetics, 2012, v. 57, n. 9, p. 580, doi. 10.1038/jhg.2012.71

By:

Shimojima, Keiko;
Inoue, Takahito;
Imai, Yuki;
Arai, Yasuhiro;
Komoike, Yuta;
Sugawara, Midori;
Fujita, Takako;
Ideguchi, Hiroshi;
Yasumoto, Sawa;
Kanno, Hitoshi;
Hirose, Shinichi;
Yamamoto, Toshiyuki

Publication type:

Article

Hypomyelinating leukodystrophies - a molecular insight into the white matter pathology.

Published in:

Clinical Genetics, 2016, v. 90, n. 4, p. 293, doi. 10.1111/cge.12811

By:

Charzewska, A.;
Wierzba, J.;
Iżycka‐Świeszewska, E.;
Bekiesińska‐Figatowska, M.;
Jurek, M.;
Gintowt, A.;
Kłosowska, A.;
Bal, J.;
Hoffman‐Zacharska, D.

Publication type:

Article

Further genotype-phenotype correlation emerging from two families with PLP1 exon 4 skipping.

Published in:

Clinical Genetics, 2014, v. 85, n. 3, p. 267, doi. 10.1111/cge.12154

By:

Biancheri, Roberta;
Grossi, Serena;
Regis, Stefano;
Rossi, Andrea;
Corsolini, Fabio;
Rossi, Daniela Paola;
Cavalli, Pietro;
Severino, Mariasavina;
Filocamo, Mirella

Publication type:

Article

PLP1 gene analysis in 88 patients with leukodystrophy.

Published in:

Clinical Genetics, 2013, v. 84, n. 6, p. 566, doi. 10.1111/cge.12103

By:

Martínez-Montero, P;
Muñoz-Calero, M;
Vallespín, E;
Campistol, J;
Martorell, L;
Ruiz-Falcó, MJ;
Santana, A;
Pons, R;
Dinopoulos, A;
Sierra, C;
Nevado, J;
Molano, J

Publication type:

Article

PLP1 duplication at the breakpoint regions of an apparently balanced t(X;22) translocation causes Pelizaeus-Merzbacher disease in a girl.

Published in:

Clinical Genetics, 2013, v. 83, n. 2, p. 169, doi. 10.1111/j.1399-0004.2012.01854.x

By:

Fonseca, ACS;
Bonaldi, A;
Costa, SS;
Freitas, MR;
Kok, F;
Vianna‐Morgante, AM

Publication type:

Article

High frequency of GJA12/ GJC2 mutations in Turkish patients with Pelizaeus-Merzbacher disease.

Published in:

Clinical Genetics, 2013, v. 83, n. 1, p. 66, doi. 10.1111/j.1399-0004.2012.01846.x

By:

Bilir, B;
Yapici, Z;
Yalcinkaya, C;
Baris, I;
Carvalho, CMB;
Bartnik, M;
Ozes, B;
Eraksoy, M;
Lupski, JR;
Battaloglu, E

Publication type:

Article

Evidence for disease penetrance relating to CNV size: Pelizaeus-Merzbacher disease and manifesting carriers with a familial 11 Mb duplication at Xq22.

Published in:

Clinical Genetics, 2012, v. 81, n. 6, p. 532, doi. 10.1111/j.1399-0004.2011.01716.x

By:

Carvalho, CMB;
Bartnik, M;
Pehlivan, D;
Fang, P;
Shen, J;
Lupski, JR

Publication type:

Article

Anesthetic challenges and successful management of a child with Pelizaeus-Merzbacher disease using general and caudal anesthesia.

Published in:

2018

By:

Kapoor, Ravish;
Zavala, Acsa M.;
Van Meter, Antoinette;
Williams, Uduak U.;
Porche, Vivian H.;
Owusu-Agyemang, Pascal

Publication type:

Letter to the Editor

Gene therapy targeting oligodendrocytes provides therapeutic benefit in a leukodystrophy model.

Published in:

2017

By:

Georgiou, Elena;
Sidiropoulou, Kyriaki;
Richter, Jan;
Papaneophytou, Christos;
Sargiannidou, Irene;
Kagiava, Alexia;
von Jonquieres, Georg;
Christodoulou, Christina;
Klugmann, Matthias;
Kleopa, Kleopas A.

Publication type:

journal article

Gait Abnormalities and Progressive Myelin Degeneration in a New Murine Model of Pelizaeus-Merzbacher Disease with Tandem Genomic Duplication.

Published in:

Journal of Neuroscience, 2013, v. 33, n. 29, p. 11788, doi. 10.1523/JNEUROSCI.1336-13.2013

By:

Clark, Kristi;
Sakowski, Lauren;
Sperle, Karen;
Banser, Linda;
Landel, Carlisle P.;
Bessert, Denise A.;
Skoff, Robert P.;
Hobson, Grace M.

Publication type:

Article

Expanded spectrum of Pelizaeus-Merzbacher-like disease: literature revision and description of a novel GJC2 mutation in an unusually severe form.

Published in:

European Journal of Human Genetics, 2013, v. 21, n. 1, p. 34, doi. 10.1038/ejhg.2012.93

By:

Biancheri, Roberta;
Rosano, Camillo;
Denegri, Laura;
Lamantea, Eleonora;
Pinto, Francesca;
Lanza, Federica;
Severino, Mariasavina;
Filocamo, Mirella

Publication type:

Article

Mutations in cardiovascular connexin genes.

Published in:

Biology of the Cell (Wiley-Blackwell), 2014, v. 106, n. 9, p. 269, doi. 10.1111/boc.201400038

By:

Molica, Filippo;
Meens, Merlijn J.P.;
Morel, Sandrine;
Kwak, Brenda R.

Publication type:

Article

Three New PLP1 Splicing Mutations Demonstrate Pathogenic and Phenotypic Diversity of Pelizaeus-Merzbacher Disease.

Published in:

Journal of Child Neurology, 2014, v. 29, n. 7, p. 924, doi. 10.1177/0883073813492387

By:

Laššuthová, Petra;
Žaliová, Markéta;
Inoue, Ken;
Haberlová, Jana;
Sixtová, Klára;
Sakmaryová, Iva;
Paděrová, Kateřina;
Mazanec, Radim;
Zámečník, Josef;
Šišková, Dana;
Garbern, Jim;
Seeman, Pavel

Publication type:

Article

Age-Related Changes in a Patient With Pelizaeus-Merzbacher Disease Determined by Repeated 1H-Magnetic Resonance Spectroscopy.

Published in:

Journal of Child Neurology, 2014, v. 29, n. 2, p. 283, doi. 10.1177/0883073813499635

By:

Mori, Tatsuo;
Mori, Kenji;
Ito, Hiromichi;
Goji, Aya;
Miyazaki, Masahito;
Harada, Masafumi;
Kurosawa, Kenji;
Kagami, Shoji

Publication type:

Article

Pelizaeus-Merzbacher–Like Disease in a Family With Variable Phenotype and a Novel Splicing GJC2 Mutation.

Published in:

Journal of Child Neurology, 2013, v. 28, n. 11, p. 1467, doi. 10.1177/0883073812463610

By:

Al-Yahyaee, Said Ali;
Al-Kindi, Mohammed;
Jonghe, Peter De;
Al-Asmi, Abdulah;
Al-Futaisi, Amna;
Vriendt, Els De;
Deconinck, Tine;
Chand, Pratap

Publication type:

Article

Clinical and mutational spectrum of Colombian patients with Pelizaeus Merzbacher Disease.

Published in:

Colombia Medica, 2018, v. 49, n. 2, p. 182, doi. 10.25100/cm.v49i2.2522

By:

Parra, Harvy Mauricio Velasco;
Anaya, Silvia Juliana Maradei;
Guio, Johanna Carolina Acosta;
Diaz, Clara Eugenia Arteaga;
Rivera, Juan Carlos Prieto

Publication type:

Article

A Novel PLP1 Mutation Further Expands the Clinical Heterogeneity at the Locus.

Published in:

Canadian Journal of Neurological Sciences, 2012, v. 39, n. 2, p. 220, doi. 10.1017/S0317167100013263

By:

Hand, Collette Kathleen;
Bernard, Geneviève;
Dubé, Marie-Pierre;
Shevell, Michael Israel;
Rouleau, Guy Armand

Publication type:

Article

The Clinical and Molecular Cytogenetic Analyses of Six Patients with Pelizaeus-Merzbacher Disease From Four Families.

Published in:

Journal of Pediatric Disease / Türkiye Çocuk Hastalıkları Dergisi, 2023, v. 17, n. 6, p. 445, doi. 10.12956/tchd.1275274

By:

AKKUŞ, Nejmiye;
ÖZYAVUZ ÇUBUK, Pelin

Publication type:

Article

Familial Case of Pelizaeus-Merzbacher Disorder Detected by Oligoarray Comparative Genomic Hybridization: Genotype-to-Phenotype Diagnosis.

Published in:

2017

By:

Najafi, Kimia;
Kariminejad, Roxana;
Hosseini, Kaveh;
Moshtagh, Azadeh;
Abbassi, Gole Maryam;
Sadatian, Neda;
Bazregar, Masood;
Kariminejad, Ariana;
Kariminejad, Mohamad Hassan

Publication type:

Case Study

Unusual Presentation of Pelizaeus-Merzbacher Disease: Female Patient with Deletion of the Proteolipid Protein 1 Gene.

Published in:

Case Reports in Genetics, 2015, v. 2015, p. 1, doi. 10.1155/2015/453105

By:

Brender, Teva;
Wallerstein, Donna;
Sum, John;
Wallerstein, Robert

Publication type:

Article

Phenotype of PLP1‐related Disorder Caused by Novel Mutation: A Case Report.

Published in:

2018

By:

Kresojević, Nikola;
Dobričić, Valerija;
Petrović, Igor;
Tomić, Aleksandra;
Svetel, Marina;
Kostić, Vladimir;
Milić Rašić, Vedrana;
Branković, Vesna

Publication type:

Case Study

Modulation of the Innate Immune Response by Human Neural Precursors Prevails over Oligodendrocyte Progenitor Remyelination to Rescue a Severe Model of Pelizaeus-Merzbacher Disease.

Published in:

Stem Cells, 2016, v. 34, n. 4, p. 984, doi. 10.1002/stem.2263

By:

Marteyn, Antoine;
Sarrazin, Nadège;
Yan, Jun;
Bachelin, Corinne;
Deboux, Cyrille;
Santin, Mathieu D.;
Gressens, Pierre;
Zujovic, Violetta;
Baron-Van Evercooren, Anne

Publication type:

Article

Auditory function in Pelizaeus-Merzbacher disease.

Published in:

Journal of Neurology, 2018, v. 265, n. 7, p. 1580, doi. 10.1007/s00415-018-8884-x

By:

Morlet, Thierry;
Nagao, Kyoko;
Bean, S. Charles;
Mora, Sara E.;
Hopkins, Sarah E.;
Hobson, Grace M.

Publication type:

Article

A new mutation in GJC2 associated with subclinical leukodystrophy.

Published in:

Journal of Neurology, 2014, v. 261, n. 10, p. 1929, doi. 10.1007/s00415-014-7429-1

By:

Abrams, Charles;
Scherer, Steven;
Flores-Obando, Rafael;
Freidin, Mona;
Wong, Sarah;
Lamantea, Eleonora;
Farina, Laura;
Scaioli, Vidmer;
Pareyson, Davide;
Salsano, Ettore

Publication type:

Article

Epidemiological, clinical, and genetic landscapes of hypomyelinating leukodystrophies.

Published in:

Journal of Neurology, 2014, v. 261, n. 4, p. 752, doi. 10.1007/s00415-014-7263-5

By:

Numata, Yurika;
Gotoh, Leo;
Iwaki, Akiko;
Kurosawa, Kenji;
Takanashi, Jun-ichi;
Deguchi, Kimiko;
Yamamoto, Toshiyuki;
Osaka, Hitoshi;
Inoue, Ken

Publication type:

Article

'Pelizaeus-Merzbacher-like disease' presenting as complicated hereditary spastic paraplegia.

Published in:

2012

By:

Zittel, S.;
Nickel, M.;
Wolf, N.;
Uyanik, G.;
Gläser, D.;
Ganos, C.;
Gerloff, C.;
Münchau, A.;
Kohlschütter, A.

Publication type:

Letter

Misalignment of PLP/DM20 Transmembrane Domains Determines Protein Misfolding in Pelizaeus-Merzbacher Disease.

Published in:

Journal of Neuroscience, 2011, v. 31, n. 42, p. 14961, doi. 10.1523/JNEUROSCI.2097-11.2011

By:

Dhaunchak, Ajit Singh;
Colman, David R.;
Nave, Klaus-Armin

Publication type:

Article

Fatal Tracheo-innominate Artery Fistula after Tracheostomy in a Patient with Pelizaeus-Merzbacher Disease.

Published in:

Journal of Nippon Medical School, 2012, v. 79, n. 4, p. 274, doi. 10.1272/jnms.79.274

By:

Imai, Takehide;
Takase, Masato;
Takeda, Sachiyo;
Hosone, Katsuji;
Tomiyama, Shunichi;
Nakanowatari, Yuichi

Publication type:

Article

Insertion of an extra copy of Xq22.2 into 1p36 results in functional duplication of the PLP1 gene in a girl with classical Pelizaeus-Merzbacher disease.

Published in:

2015

By:

Masliah-Planchon, Julien;
Dupont, Céline;
Vartzelis, George;
Trimouille, Aurélien;
Eymard-Pierre, Eléonore;
Gay-Bellile, Mathilde;
Renaldo, Florence;
Dorboz, Imen;
Pagan, Cécile;
Quentin, Samuel;
Elmaleh, Monique;
Kotsogianni, Christina;
Konstantelou, Elissavet;
Drunat, Séverine;
Tabet, Anne-Claude;
Boespflug-Tanguy, Odile

Publication type:

Case Study

Complex Genomic Rearrangements at the PLP1 Locus Include Triplication and Quadruplication.

Published in:

PLoS Genetics, 2015, v. 11, n. 3, p. 1, doi. 10.1371/journal.pgen.1005050

By:

Beck, Christine R.;
Carvalho, Claudia M. B.;
Banser, Linda;
Gambin, Tomasz;
Stubbolo, Danielle;
Yuan, Bo;
Sperle, Karen;
McCahan, Suzanne M.;
Henneke, Marco;
Seeman, Pavel;
Garbern, James Y.;
Hobson, Grace M.;
Lupski, James R.

Publication type:

Article