Works matching Pelizaeus-merzbacher disease

Results: 280

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

'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

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

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

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

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

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

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

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

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

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

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

Brain atrophy in Pelizaeus-Merzbacher disease.

Published in:

2016

By:

Inoue, Ken

Publication type:

journal article

Pelizaeus-Merzbacher- Disease (PMD) and Pelizaeus-Merzbacher-like disease (PMLD).

Published in:

Iranian Journal of Child Neurology, 2014, v. 8, n. 4, p. 9

By:

KARIMZADEH, Parvaneh

Publication type:

Article

Variable Expression of a Novel PLP1 Mutation in Members of a Family With Pelizaeus-Merzbacher Disease.

Published in:

Journal of Child Neurology, 2009, v. 24, n. 5, p. 618, doi. 10.1177/0883073808327833

By:

Fattal-Valevski, Aviva;
DiMaio, Miriam S.;
Hisama, Fuki M.;
Hobson, Grace M.;
Davis-Williams, Angelique;
Garbern, James Y.;
Mahoney, Maurice J.;
Kolodny, Edwin H.;
Pastores, Gregory M.

Publication type:

Article

New Mutation of Pelizaeus-Merzbacher-Like Disease; A Report from Iran.

Published in:

Iranian Journal of Radiology, 2014, v. 11, n. 2, p. 1, doi. 10.5812/iranjradiol.6913

By:

Karimzadeh, Parvaneh;
Ahmadabadi, Farzad;
Aryani, Omid;
Houshmand, Massoud;
Khatami, Alireza

Publication type:

Article

Pelizaeus- Merzbacher disease: Cellular pathogenesis and pharmacologic therapy.

Published in:

Pediatrics International, 2014, v. 56, n. 5, p. 659, doi. 10.1111/ped.12450

By:

Torii, Tomohiro;
Miyamoto, Yuki;
Yamauchi, Junji;
Tanoue, Akito

Publication type:

Article

Novel mutations in the GJC2 gene associated with Pelizaeus–Merzbacher-like disease.

Published in:

Molecular Biology Reports, 2019, v. 46, n. 4, p. 4507, doi. 10.1007/s11033-019-04906-4

By:

Owczarek-Lipska, Marta;
Mulahasanovic, Lejla;
Obermaier, Carolin D.;
Hörtnagel, Konstanze;
Neubauer, Bernd A.;
Korenke, Georg-Christoph;
Biskup, Saskia;
Neidhardt, John

Publication type:

Article

The natural history of Pelizaeus–Merzbacher disease caused by PLP1 duplication: A multiyear case series.

Published in:

2023

By:

Trepanier, Angela M.;
Aguilar, Sienna;
Kamholz, John;
Laukka, Jeremy J.

Publication type:

Case Study

Three young adult patients with Pelizaeus–Merzbacher disease who showed only waves I and II in auditory brainstem responses but had good auditory perception.

Published in:

Acta Oto-Laryngologica, 2005, v. 125, n. 9, p. 1018, doi. 10.1080/00016480510038581

By:

Kaga, Kimitaka;
Tamai, Fumi;
Kodama, Mariko;
Kodama, Kazuo

Publication type:

Article

Myelin-associated glycoprotein gene mutation causes Pelizaeus-Merzbacher disease-like disorder.

Published in:

2015

By:

Lossos, Alexander;
Elazar, Nimrod;
Lerer, Israela;
Schueler-Furman, Ora;
Fellig, Yakov;
Glick, Benjamin;
Zimmerman, Bat-El;
Azulay, Haim;
Dotan, Shlomo;
Goldberg, Sharon;
Gomori, John M.;
Ponger, Penina;
Newman, J. P.;
Marreed, Hodaifah;
Steck, Andreas J.;
Schaeren-Wiemers, Nicole;
Mor, Nofar;
Harel, Michal;
Geiger, Tamar;
Eshed-Eisenbach, Yael

Publication type:

journal article

Changes in Object Recognition and Anxiety-Like Behaviour in Mice Expressing a Cx47 Mutation That Causes Pelizaeus-Merzbacher-Like Disease.

Published in:

Developmental Neuroscience, 2012, v. 34, n. 2/3, p. 277, doi. 10.1159/000339305

By:

Zlomuzica, Armin;
Tress, Oliver;
Binder, Sonja;
Rovira, Catherine;
Willecke, Klaus;
Dere, Edrem

Publication type:

Article

Pelizaeus-Merzbacher Disease: A Caregiver Assessment of Disease Impact.

Published in:

Journal of Child Neurology, 2023, v. 38, n. 1/2, p. 78, doi. 10.1177/08830738231152658

By:

Moore, Katrina M;
Wolf, Nicole I.;
Hobson, Grace;
Bowyer, Kristina;
McSherry, Jordan;
Hartin, Gail;
Wilde, Claire;
Shapiro, Stacey;
Frank, Jason;
Manley, David;
Junge, Candice

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

Pelizaeus- Merzbacher disease as a chromosomal disorder.

Published in:

Congenital Anomalies, 2013, v. 53, n. 1, p. 3, doi. 10.1111/cga.12005

By:

Yamamoto, Toshiyuki;
Shimojima, Keiko

Publication type:

Article

Ketogenic diet ameliorates axonal defects and promotes myelination in Pelizaeus–Merzbacher disease.

Published in:

Acta Neuropathologica, 2019, v. 138, n. 1, p. 147, doi. 10.1007/s00401-019-01985-2

By:

Stumpf, Sina K.;
Berghoff, Stefan A.;
Trevisiol, Andrea;
Spieth, Lena;
Düking, Tim;
Schneider, Lennart V.;
Schlaphoff, Lennart;
Burfeind, Dinah;
Kusch, Kathrin;
Saher, Gesine;
Ruhwedel, Torben;
Möbius, Wiebke;
Nave, Klaus-Armin;
Dreha-Kulaczewski, Steffi;
Gärtner, Jutta;
Bley, Annette;
Guder, Philipp;
Denecke, Jonas;
Mitkovski, Miso;
Röhse, Heiko

Publication type:

Article

Targeted metabolomic analyses of cellular models of pelizaeus-merzbacher disease reveal plasmalogen and myo-inositol solute carrier dysfunction.

Published in:

Lipids in Health & Disease, 2011, v. 10, n. 1, p. 102, doi. 10.1186/1476-511X-10-102

By:

Wood, Paul L.;
Smith, Tara;
Pelzer, Lindsay;
Goodenowe, Dayan B.

Publication type:

Article

Pelizaeus-Merzbacher Disease: A Developmental Disorder Affecting Myelin Formation in the Nervous System.

Published in:

Journal of Developmental & Physical Disabilities, 2005, v. 17, n. 2, p. 173, doi. 10.1007/s10882-005-3687-2

By:

Pretorius, E.;
Naudé, H.;
Ribbens, C.;
Bosman, M.

Publication type:

Article

Genetics of Pelizaeus-Merzbacher Disease.

Published in:

Developmental Neuroscience, 1993, v. 15, n. 6, p. 383, doi. 10.1159/000111361

By:

Hodes, M.E.;
Pratt, Victoria M.;
Dlouhy, Stephen R.

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