Works matching DE "GLOBOID cell leukodystrophy"

Results: 194

General anesthesia safety in progressive leukodystrophies: A retrospective study of patients with Krabbe disease and metachromatic leukodystrophy.

Published in:

Pediatric Anesthesia, 2019, v. 29, n. 10, p. 1053, doi. 10.1111/pan.13714

By:

Bascou, Nicholas A.;
Marcos, Maria C.;
Beltran Quintero, Maria L.;
Roosen‐Marcos, Mercedes C.;
Cladis, Franklyn P.;
Poe, Michele D.;
Escolar, Maria L.;
Veyckemans, Francis

Publication type:

Article

Midbrain morphology reflects extent of brain damage in Krabbe disease.

Published in:

Neuroradiology, 2015, v. 57, n. 7, p. 739, doi. 10.1007/s00234-015-1523-7

By:

Zuccoli, Giulio;
Narayanan, Srikala;
Panigrahy, Ashok;
Poe, Michele;
Escolar, Maria

Publication type:

Article

Thickening of the cauda equina roots: a common finding in Krabbe disease.

Published in:

2016

By:

Hwang, Misun;
Zuccoli, Giulio;
Panigrahy, Ashok;
Rodriguez, David;
Poe, Michele;
Escolar, Maria;
Poe, Michele D;
Escolar, Maria L

Publication type:

journal article

APPENDIX D.

Published in:

Human Life Review, 2005, v. 30, n. 1, p. 87

By:

Smith, Wesley J.

Publication type:

Article

Compound Galactosylceramidase Gene (GALC) Heterozygosity in a Boy with Infantile Krabbe Disease (KD).

Published in:

Contributions / Prilozi (1857-9345), 2015, v. 36, n. 3, p. 99, doi. 10.1515/prilozi-2015-0084

By:

Gucev, Zoran;
Tasic, Velibor

Publication type:

Article

Juvenile onset globoid cell leukodystrophy masquerading as XL-adrenoleukodystrophy.

Published in:

Journal of Paediatrics & Child Health, 2008, v. 44, n. 7/8, p. 459, doi. 10.1111/j.1440-1754.2008.01340.x

By:

Srinivasan, Jayasri;
Coleman, Lee;
Kornberg, Andrew J.

Publication type:

Article

Doença de Krabbe: a importância do diagnóstico precoce para seu prognóstico.

Published in:

Einstein (16794508), 2012, v. 10, n. 2, p. 233, doi. 10.1590/S1679-45082012000200019

By:

Sano, Tatiana Suemi

Publication type:

Article

Van der Knaap syndrome, a case from West Bengal, India.

Published in:

2010

By:

Aditya, Subhra;
Gupta, R. Das;
Das, D.;
Roy, M. K.;
Dhibar, T.;
Das, T.

Publication type:

Case Study

Van der Knaap syndrome, a case from West Bengal, India.

Published in:

2010

By:

Aditya, Subhra;
Gupta, R. Das;
Das, D.;
Roy, M. K.;
Dhibar, T.;
Das, T.

Publication type:

Case Study

Krabbe Disease: Severe Neonatal Presentation With a Family History of Multiple Sclerosis.

Published in:

Journal of Child Neurology, 2005, v. 20, n. 10, p. 826, doi. 10.1177/08830738050200100901

By:

Sahai, Inderneel;
Baris, Hagit;
Kimonis, Virginia;
Levy, Harvey L.

Publication type:

Article

Globoid Cell Leukodystrophy (Krabbe's Disease): Update.

Published in:

Journal of Child Neurology, 2003, v. 18, n. 9, p. 595, doi. 10.1177/08830738030180090201

By:

Suzuki, Kunihiko

Publication type:

Article

Leukodystrophies: Pathogenesis, Diagnosis, Strategies, Therapies, and Future Research Directions.

Published in:

Journal of Child Neurology, 2003, v. 18, n. 9, p. 578, doi. 10.1177/08830738030180090401

By:

Maria, Bernard L.;
Deidrick, Kathleen McCann;
Moser, Hugo;
Naidu, Sakkubai

Publication type:

Article

Leukoencephalopathy With Bilateral Anterior Temporal Lobe Cysts: A Further Case of This New Entity.

Published in:

Journal of Child Neurology, 2002, v. 17, n. 10, p. 773

By:

Cioni, Giovanni

Publication type:

Article

Magnetic Resonance Spectroscopy and Magnetic Resonance Imaging Findings in Krabbe's Disease.

Published in:

Journal of Child Neurology, 2001, v. 16, n. 7, p. 522, doi. 10.2310/7010.2001.17863

By:

Zarifi, Maria K.;
Tzika, A. Aria;
Astrakas, Loukas G.;
Poussaint, Tina Young;
Anthony, Douglas C.;
Darras, Basil T.

Publication type:

Article

Vacuolating Megalencephaic Leukoencephalopathy in 12 Israeli Patients.

Published in:

Journal of Child Neurology, 2001, v. 16, n. 2, p. 93, doi. 10.1177/088307380101600205

By:

Ben-Zeev, Bruria;
Gross, Varda;
Kushnir, Tamar;
Shalev, Ruth;
Hoffman, Chen;
Shinar, Yael;
Pras, Eilo;
Brand, Nathan

Publication type:

Article

Natural history of Krabbe disease - a nationwide study in Germany using clinical and MRI data.

Published in:

2020

By:

Krieg, Sarah Isabel;
Krägeloh-Mann, Ingeborg;
Groeschel, Samuel;
Beck-Wödl, Stefanie;
Husain, Ralf A.;
Schöls, Ludger;
Kehrer, Christiane

Publication type:

journal article

Altered Trafficking and Processing of GALC Mutants Correlates with Globoid Cell Leukodystrophy Severity.

Published in:

Journal of Neuroscience, 2016, v. 36, n. 6, p. 1858, doi. 10.1523/JNEUROSCI.3095-15.2016

By:

Shin, Daesung;
Feltri, M. Laura;
Wrabetz, Lawrence

Publication type:

Article

Mechanism-Based Combination Treatment Dramatically Increases Therapeutic Efficacy in Murine Globoid Cell Leukodystrophy.

Published in:

Journal of Neuroscience, 2015, p. 6495, doi. 10.1523/JNEUROSCI.4199-14.2015

By:

Hawkins-Salsbury, Jacqueline A.;
Shea, Lauren;
Xuntian Jiang;
Hunter, Daniel A.;
Guzman, A. Miguel;
Reddy, Adarsh S.;
Qin, Elizabeth Y.;
Li, Yedda;
Gray, Steven J.;
Ory, Daniel S.;
Sands, Mark S.

Publication type:

Article

Mechanism of Neuromuscular Dysfunction in Krabbe Disease.

Published in:

Journal of Neuroscience, 2015, v. 35, n. 4, p. 1606, doi. 10.1523/JNEUROSCI.2431-14.2015

By:

Cantuti-Castelvetri, Ludovico;
Maravilla, Erick;
Marshall, Michael;
Tamayo, Tammy;
D'auria, Ludovic;
Monge, John;
Jeffries, James;
Sural-Fehr, Tuba;
Lopez-Rosas, Aurora;
Li, Guannan;
Garcia, Kelly;
van Breemen, Richard;
Vite, Charles;
Garcia, Jesus;
Bongarzone, Ernesto R.

Publication type:

Article

Ethical issues with testing and treatment for Krabbe disease.

Published in:

2019

By:

Ehmann, Paul;
Lantos, John D

Publication type:

journal article

Newborn Screening for Krabbe Disease: Status Quo and Recommendations for Improvements.

Published in:

International Journal of Neonatal Screening (IJNS), 2024, v. 10, n. 1, p. 10, doi. 10.3390/ijns10010010

By:

Matern, Dietrich;
Basheeruddin, Khaja;
Klug, Tracy L.;
McKee, Gwendolyn;
Edge, Patricia U.;
Hall, Patricia L.;
Kurtzberg, Joanne;
Orsini, Joseph J.

Publication type:

Article

Newborn Screening Is on a Collision Course with Public Health Ethics.

Published in:

International Journal of Neonatal Screening (IJNS), 2022, v. 8, n. 4, p. 51, doi. 10.3390/ijns8040051

By:

Currier, Robert J.

Publication type:

Article

A Roadmap for Potential Improvement of Newborn Screening for Inherited Metabolic Diseases Following Recent Developments and Successful Applications of Bivariate Normal Limits for Pre-Symptomatic Detection of MPS I, Pompe Disease, and Krabbe Disease.

Published in:

International Journal of Neonatal Screening (IJNS), 2022, v. 8, n. 4, p. 61, doi. 10.3390/ijns8040061

By:

Jalal, Kabir;
Carter, Randy L.;
Barczykowski, Amy;
Tomatsu, Shunji;
Langan, Thomas J.

Publication type:

Article

Hematopoietic Stem Cell Transplantation in Late-Onset Krabbe Disease: No Evidence of Worsening Demyelination and Axonal Loss 4 Years Post-allograft.

Published in:

2018

By:

Laule, Cornelia;
Vavasour, Irene M.;
Shahinfard, Elham;
Mädler, Burkhard;
Zhang, Jing;
Li, David K. B.;
MacKay, Alex L.;
Sirrs, Sandra M.

Publication type:

journal article

Compound heterozygosity in the GALC gene in a late onset Iranian patient with spastic paraparesis, peripheral neuropathy and leukoencephalopathy.

Published in:

2017

By:

Africa, Liana;
Margollicci, Maria;
Salvatore, Simona;
Shalbafan, Bita;
Peruzzi, Luana;
Togha, Mansoureh;
Sorrentino, Vincenzo;
Federico, Antonio

Publication type:

Case Study

Peripheral neuropathy in late-onset Krabbe disease: report of three cases.

Published in:

Neurological Sciences, 2013, v. 34, n. 1, p. 79, doi. 10.1007/s10072-012-0956-6

By:

Malandrini, A.;
D'Eramo, C.;
Palmeri, S.;
Gaudiano, C.;
Gambelli, S.;
Sicurelli, F.;
Berti, G.;
Formichi, P.;
Kuqo, A.;
Dotti, M.;
Federico, A.

Publication type:

Article

Sporadic diffuse leucoencephalopathy with axonal spheroids: report of a profuse and rapid cortical-spinal degeneration.

Published in:

Neurological Sciences, 2012, v. 33, n. 4, p. 905, doi. 10.1007/s10072-011-0817-8

By:

Paula, A.;
Michel, B.;
Dickson, D.;
Wszolek, Z.;
Pellissier, J.

Publication type:

Article

The Relative incidence of Leukodystrophies in Tehran Province.

Published in:

Journal of Safety Promotion & Injury Prevention, 2019, v. 7, n. 3, p. 250

By:

Amanat, Manouchehr;
Tavasoli, Ali Reza

Publication type:

Article

The 96th Neuropathological Meeting of Kyushu District 5 July 2008.

Published in:

2008

By:

Iwaki, Toru

Publication type:

Other

Chaperone therapy for Krabbe disease: potential for late-onset GALC mutations.

Published in:

Journal of Human Genetics, 2015, v. 60, n. 9, p. 539, doi. 10.1038/jhg.2015.61

By:

Hossain, Mohammad Arif;
Higaki, Katsumi;
Saito, Seiji;
Ohno, Kazuki;
Sakuraba, Hitoshi;
Nanba, Eiji;
Suzuki, Yoshiyuki;
Ozono, Keiichi;
Sakai, Norio

Publication type:

Article

Six novel mutations detected in the GALC gene in 17 Japanese patients with Krabbe disease, and new genotype–phenotype correlation.

Published in:

Journal of Human Genetics, 2006, v. 51, n. 6, p. 548, doi. 10.1007/s10038-006-0396-3

By:

Chengzhe Xu;
Sakai, Norio;
Taniike, Masako;
Inui, Koji;
Ozono, Keiichi

Publication type:

Article

Large‐scale study of clinical and biochemical characteristics of Chinese patients diagnosed with Krabbe disease.

Published in:

Clinical Genetics, 2018, v. 93, n. 2, p. 248, doi. 10.1111/cge.13071

By:

Zhao, S.;
Zhan, X.;
Wang, Y.;
Ye, J.;
Han, L.;
Qiu, W.;
Gao, X.;
Gu, X.;
Zhang, H.

Publication type:

Article

Krabbe leukodystrophy in a selected population with high rate of late onset forms: longer survival linked to c.121G>A (p.Gly41Ser) mutation.

Published in:

Clinical Genetics, 2011, v. 80, n. 5, p. 452, doi. 10.1111/j.1399-0004.2010.01572.x

By:

Fiumara, A;
Barone, R;
Arena, A;
Filocamo, M;
Lissens, W;
Pavone, L;
Sorge, G

Publication type:

Article

Pelizaeus–Merzbacher-like disease is caused not only by a loss of connexin47 function but also by a hemichannel dysfunction.

Published in:

European Journal of Human Genetics, 2010, v. 18, n. 9, p. 985, doi. 10.1038/ejhg.2010.61

By:

Diekmann, Simone;
Henneke, Marco;
Burckhardt, Birgitta C.;
Gärtner, Jutta

Publication type:

Article

Molecular characterization of an 11q14.3 microdeletion associated with leukodystrophy.

Published in:

2004

By:

Goizet, Cyril;
Coupry, Isabelle;
Rooryck, Caroline;
Taine, Laurence;
Dormoy, Virginie;
Lacombe, Didier;
Arveiler, Benoît

Publication type:

Report

Giant axonal neuropathy.

Published in:

Applied Radiology, 2018, v. 47, n. 5, p. 40, doi. 10.37549/ar2481

By:

Crete, Ryan;
Jorgensen, Scott A.;
Towbin, Alexander J.;
Towbin, Richard

Publication type:

Article

Adult Onset Leukodystrophy with Neuroaxonal Spheroids: Clinical, Neuroimaging and Neuropathologic Observations.

Published in:

Brain Pathology, 2009, v. 19, n. 1, p. 39, doi. 10.1111/j.1750-3639.2008.00163.x

By:

Freeman, Stefanie H.;
Hyman, Bradley T.;
Sims, Katherine B.;
Hedley-Whyte, E. T.;
Vossough, Arastoo;
Frosch, Matthew P.;
Schmahmann, Jeremy D.

Publication type:

Article

Autonomic Denervation of Lymphoid Organs Leads to Epigenetic Immune Atrophy in a Mouse Model of Krabbe Disease.

Published in:

Journal of Neuroscience, 2007, v. 27, n. 50, p. 13730, doi. 10.1523/JNEUROSCI.3379-07.2007

By:

Galbiati, Francesca;
Basso, Veronica;
Cantuti, Ludovico;
Givogri, Maria Irene;
Lopez-Rosas, Aurora;
Perez, Nicolas;
Vasu, Chenthamarakshan;
Cao, Hongmei;
Breemen, Richard van;
Mondino, Anna;
Bongarzone, Ernesto R.

Publication type:

Article

Alexander Disease-Associated Glial Fibrillary Acidic Protein Mutations in Mice Induce Rosenthal Fiber Formation and a White Matter Stress Response.

Published in:

Journal of Neuroscience, 2006, v. 26, n. 43, p. 11162, doi. 10.1523/JNEUROSCI.3260-06.2006

By:

Hagemann, Tracy L.;
Connor, Jolien X.;
Messing, Albee

Publication type:

Article

Mutant NDUFV1 subunit of mitochondrial complex I causes leukodystrophy and myoclonic epilepsy.

Published in:

Nature Genetics, 1999, v. 21, n. 3, p. 260, doi. 10.1038/6772

By:

Schuelke, Markus;
Smeitink, Jan;
Mariman, Edwin;
Loeffen, Jan;
Plecko, Barbara;
Trijbels, Frans;
Stöckler-Ipsiroglu, Sylvia;
Heuvel, Lambert van den

Publication type:

Article

Region- and age-dependent alterations of glial-neuronal metabolic interactions correlate with CNS pathology in a mouse model of globoid cell leukodystrophy.

Published in:

Journal of Cerebral Blood Flow & Metabolism, 2013, v. 33, n. 7, p. 1127, doi. 10.1038/jcbfm.2013.64

By:

Meisingset, Tore Wergeland;
Ricca, Alessandra;
Neri, Margherita;
Sonnewald, Ursula;
Gritti, Angela

Publication type:

Article

Alexander disease: a review and the gene

Published in:

International Journal of Developmental Neuroscience, 2002, v. 20, n. 3-5, p. 391, doi. 10.1016/S0736-5748(02)00045-X

By:

Johnson, Anne B.

Publication type:

Article

A novel de novo variant in POLR3B gene associated with a primary axonal involvement of the largest nerve fibers.

Published in:

Journal of the Peripheral Nervous System, 2023, v. 28, n. 4, p. 620, doi. 10.1111/jns.12602

By:

Geroldi, Alessandro;
Tozza, Stefano;
Fiorillo, Chiara;
Nolano, Maria;
Fossa, Paola;
Vitale, Floriana;
Domi, Regi;
Gaudio, Andrea;
Mammi, Alessia;
Patrone, Serena;
Barbera, Andrea La;
Origone, Paola;
Ponti, Clarissa;
Sanguineri, Francesca;
Zara, Federico;
Cataldi, Matteo;
Salpietro, Vincenzo;
Venturi, Consuelo Barbara;
Massucco, Sara;
Schenone, Angelo

Publication type:

Article

Adult‐onset Krabbe disease presenting as isolated sensorimotor demyelinating polyneuropathy: A case report.

Published in:

Journal of the Peripheral Nervous System, 2022, v. 27, n. 4, p. 320, doi. 10.1111/jns.12511

By:

Forbes, Emily;
Smith, Kaitlin;
Petluru, Monica;
Nystrom, Jered;
Fridman, Vera

Publication type:

Article

Peripheral Neuropathy with Hypomyelinating Features in Adult-onset Krabbe's Disease.

Published in:

Journal of the Peripheral Nervous System, 2003, v. 8, n. 2, p. 128, doi. 10.1046/j.1529-8027.2003.03016_3.x

By:

Sabatelli, M;
Quaranta, L;
Madia, F;
Lippi, G;
Conte, A;
Lo Monaco, M;
Di Trapani, G;
Rafi, MA;
Wenger, DA;
Vaccaro, AM;
Tonali, P

Publication type:

Article

Phenotypic Variability of Krabbe Disease Across the Lifespan.

Published in:

Canadian Journal of Neurological Sciences, 2014, v. 41, n. 1, p. 5, doi. 10.1017/S0317167100016188

By:

Liao, Pamela;
Gelinas, Jennifer;
Sirrs, Sandra

Publication type:

Article

Optic Nerve Enlargement Associated with Globoid Cell Leukodystrophy.

Published in:: Canadian Journal of Neurological Sciences, 2006, v. 33, n. 2, p. 235, doi. 10.1017/S0317167100005047
Publication type:: Article

Allogeneic bone marrow transplantation for infantile globoid-cell leukodystrophy (Krabbe's disease).

Published in:

Pediatric Transplantation, 2002, v. 6, n. 5, p. 427, doi. 10.1034/j.1399-3046.2002.02026.x

By:

Caniglia, Maurizio;
Rana, Ippolita;
Pinto, Rita Maria;
Fariello, Giuseppe;
Caruso, Roberta;
Angioni, Adriano;
Dionisi Vici, Carlo;
Sabetta, Gaetano;
De Rossi, Giulio

Publication type:

Article

An Infant With Myoclonic Jerks, Global Developmental Delay, and Failure to Thrive.

Published in:

Clinical Pediatrics, 2011, v. 50, n. 6, p. 570, doi. 10.1177/0009922810366736

By:

Chia-Wen Lee;
Bawle, Erawati V.

Publication type:

Article

Vitamin K Antagonist Warfarin for Palliative Treatment of Metachromatic Leukodystrophy, A Compassionate Study of Four Subjects.

Published in:

Journal of Central Nervous System Disease, 2012, v. 4, n. 3, p. 1, doi. 10.4137/JCNSD.S9355

By:

Assadi, Mitra;
Wang, Dah-Jyuu;
Anderson, Kelly;
Carran, Melissa;
Bilaniuk, Larissa;
Leone, Paola

Publication type:

Article