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Subacute onset of deafness and vertigo in a patient with leptomeningeal metastasis from ovarian cancer.
Published in:
Neurological Sciences, 2009, v. 30, n. 1, p. 65, doi. 10.1007/s10072-008-0006-6
By:
- Vitaliani, Roberta;
- Spinazzi, Marco;
- Mistro, Anna;
- Manara, Renzo;
- Tavolato, Bruno;
- Bonifati, Domenico
Publication type:
Article
Editorial: Application of Omics Approaches to the Diagnosis of Genetic Neurological Disorders.
Published in:
2021
By:
- Legati, Andrea;
- Giacopuzzi, Edoardo;
- Spinazzi, Marco;
- Lek, Monkol
Publication type:
Editorial
Myelo-optico-neuropathy in copper deficiency occurring after partial gastrectomy.
Published in:
Journal of Neurology, 2007, v. 254, n. 8, p. 1012, doi. 10.1007/s00415-006-0479-2
By:
- Spinazzi, Marco;
- Lazzari, Franca;
- Tavolato, Bruno;
- Angelini, Corrado;
- Manara, Renzo;
- Armani, Mario
Publication type:
Article
Primary coenzyme Q<sub>10</sub> deficiency presenting as fatal neonatal multiorgan failure.
Published in:
European Journal of Human Genetics, 2015, v. 23, n. 9, p. 1254, doi. 10.1038/ejhg.2014.277
By:
- Desbats, Maria Andrea;
- Vetro, Annalisa;
- Limongelli, Ivan;
- Lunardi, Giada;
- Casarin, Alberto;
- Doimo, Mara;
- Spinazzi, Marco;
- Angelini, Corrado;
- Cenacchi, Giovanna;
- Burlina, Alberto;
- Rodriguez Hernandez, Maria Angeles;
- Chiandetti, Lino;
- Clementi, Maurizio;
- Trevisson, Eva;
- Navas, Placido;
- Zuffardi, Orsetta;
- Salviati, Leonardo
Publication type:
Article
Multidisciplinary team meetings in treatment of spinal muscular atrophy adult patients: a real-life observatory for innovative treatments.
Published in:
Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-023-03008-6
By:
- Salort-Campana, Emmanuelle;
- Solé, Guilhem;
- Magot, Armelle;
- Tard, Céline;
- Noury, Jean-Baptiste;
- Behin, Anthony;
- De La Cruz, Elisa;
- Boyer, François;
- Lefeuvre, Claire;
- Masingue, Marion;
- Debergé, Louise;
- Finet, Armelle;
- Brison, Mélanie;
- Spinazzi, Marco;
- Pegat, Antoine;
- Sacconi, Sabrina;
- Malfatti, Edoardo;
- Choumert, Ariane;
- Bellance, Rémi;
- Bedat-Millet, Anne-Laure
Publication type:
Article
Dlk1-Dio3 cluster miRNAs regulate mitochondrial functions in the dystrophic muscle in Duchenne muscular dystrophy.
Published in:
Life Science Alliance, 2023, v. 6, n. 1, p. 1, doi. 10.26508/lsa.202201506
By:
- Ai Vu Hong;
- Bourg, Nathalie;
- Sanatine, Peggy;
- Poupiot, Jerome;
- Charton, Karine;
- Gicquel, Evelyne;
- Massourides, Emmanuelle;
- Spinazzi, Marco;
- Richard, Isabelle;
- Israeli, David
Publication type:
Article
Comparison of Corticosteroid Tapering Regimens in Myasthenia Gravis: A Randomized Clinical Trial.
Published in:
JAMA Neurology, 2021, v. 78, n. 4, p. 426, doi. 10.1001/jamaneurol.2020.5407
By:
- Sharshar, Tarek;
- Porcher, Raphaël;
- Demeret, Sophie;
- Tranchant, Christine;
- Gueguen, Antoine;
- Eymard, Bruno;
- Nadaj-Pakleza, Aleksandra;
- Spinazzi, Marco;
- Grimaldi, Lamiae;
- Birnbaum, Simone;
- Friedman, Diane;
- Clair, Bernard
Publication type:
Article
Impaired copper and iron metabolism in blood cells and muscles of patients affected by copper deficiency myeloneuropathy.
Published in:
Neuropathology & Applied Neurobiology, 2014, v. 40, n. 7, p. 888, doi. 10.1111/nan.12111
By:
- Spinazzi, Marco;
- Sghirlanzoni, Angelo;
- Salviati, Leonardo;
- Angelini, Corrado
Publication type:
Article
Restricted Sensitivity of FJ-C Staining to Assess Neuronal Degeneration and Death in Preclinical Mouse Studies.
Published in:
Veterinary Pathology, 2021, v. 58, n. 4, p. 643, doi. 10.1177/0300985820985290
By:
- Santagostino, Sara Francesca;
- Spinazzi, Marco;
- Radaelli, Enrico
Publication type:
Article
Spontaneous Incidental Brain Lesions in C57BL/6J Mice.
Published in:
Veterinary Pathology, 2020, v. 57, n. 1, p. 172, doi. 10.1177/0300985819859878
By:
- Tarrant, James C.;
- Savickas, Patrick;
- Omodho, Lorna;
- Spinazzi, Marco;
- Radaelli, Enrico
Publication type:
Article
Phenotype variability and natural history of X-linked myopathy with excessive autophagy.
Published in:
Journal of Neurology, 2024, v. 271, n. 7, p. 4008, doi. 10.1007/s00415-024-12298-0
By:
- Fernández-Eulate, Gorka;
- Alfieri, Girolamo;
- Spinazzi, Marco;
- Ackermann-Bonan, Isabelle;
- Duval, Fanny;
- Solé, Guilhem;
- Caillon, Florence;
- Mercier, Sandra;
- Pereon, Yann;
- Magot, Armelle;
- Pegat, Antoine;
- Salort-Campana, Emmanuelle;
- Chabrol, Brigitte;
- Gorokhova, Svetlana;
- Krahn, Martin;
- Biancalana, Valerie;
- Evangelista, Teresinha;
- Behin, Anthony;
- Metay, Corinne;
- Stojkovic, Tanya
Publication type:
Article
Myasthenia gravis treatment in the elderly presents with a significant iatrogenic risk: a multicentric retrospective study.
Published in:
Journal of Neurology, 2023, v. 270, n. 12, p. 5819, doi. 10.1007/s00415-023-11925-6
By:
- Chanson, Jean-Baptiste;
- Bouhour, Françoise;
- Aubé-Nathier, Anne-Catherine;
- Mallaret, Martial;
- Vial, Christophe;
- Hacquard, Aurélien;
- Petiot, Philippe;
- Spinazzi, Marco;
- Nadaj-Pakleza, Aleksandra;
- Echaniz-Laguna, Andoni
Publication type:
Article
Mitochondrial defects caused by PARL deficiency lead to arrested spermatogenesis and ferroptosis.
Published in:
eLife, 2023, p. 1, doi. 10.7554/eLife.84710
By:
- Radaelli, Enrico;
- Assenmacher, Charles-Antoine;
- Verrelle, Jillian;
- Banerjee, Esha;
- Manero, Florence;
- Khiati, Salim;
- Girona, Anais;
- Lopez-Lluch, Guillermo;
- Navas, Placido;
- Spinazzi, Marco
Publication type:
Article
CHCHD2 harboring Parkinson’s disease-linked T61I mutation precipitates inside mitochondria and induces precipitation of wild-type CHCHD2.
Published in:
Human Molecular Genetics, 2020, v. 29, n. 7, p. 1096, doi. 10.1093/hmg/ddaa028
By:
- Cornelissen, Tom;
- Spinazzi, Marco;
- Martin, Shaun;
- Imberechts, Dorien;
- Vangheluwe, Peter;
- Bird, Matthew;
- De Strooper, Bart;
- Vandenberghe, Wim
Publication type:
Article
Increased mitophagy in the skeletal muscle of spinal and bulbar muscular atrophy patients.
Published in:
Human Molecular Genetics, 2017, v. 26, n. 6, p. 1087, doi. 10.1093/hmg/ddx019
By:
- Borgia, Doriana;
- Malena, Adriana;
- Spinazzi, Marco;
- Desbats, Maria Andrea;
- Salviati, Leonardo;
- Russell, Aaron P.;
- Miotto, Giovanni;
- Tosatto, Laura;
- Pegoraro, Elena;
- Sorarù, Gianni;
- Pennuto, Maria;
- Vergani, Lodovica
Publication type:
Article
Bulbar muscle impairment in patients with late onset Pompe disease: Insight from the French Pompe registry.
Published in:
European Journal of Neurology, 2024, v. 31, n. 10, p. 1, doi. 10.1111/ene.16428
By:
- Retailleau, Emilie;
- Lefeuvre, Claire;
- De Antonio, Marie;
- Bouhour, Françoise;
- Tard, Celine;
- Salort‐Campana, Emmanuelle;
- Lagrange, Emmeline;
- Béhin, Anthony;
- Solé, Guilhem;
- Noury, Jean‐Baptiste;
- Sacconi, Sabrina;
- Magot, Armelle;
- Pakleza, Aleksandra Nadaj;
- Orlikowski, David;
- Beltran, Stéphane;
- Spinazzi, Marco;
- Cintas, Pascal;
- Fournier, Maxime;
- Bouibede, Fatma;
- Prigent, Hélène
Publication type:
Article
Real‐life effectiveness 1 year after switching to avalglucosidase alfa in late‐onset Pompe disease patients worsening on alglucosidase alfa therapy: A French cohort study.
Published in:
European Journal of Neurology, 2024, v. 31, n. 7, p. 1, doi. 10.1111/ene.16292
By:
- Tard, Céline;
- Bouhour, Françoise;
- Michaud, Maud;
- Beltran, Stephane;
- Fournier, Maxime;
- Demurger, Florence;
- Lagrange, Emmeline;
- Nollet, Sylvain;
- Sacconi, Sabrina;
- Noury, Jean‐Baptiste;
- Magot, Armelle;
- Cintas, Pascal;
- Renard, Dimitri;
- Deibener‐Kaminsky, Joëlle;
- Lefeuvre, Claire;
- Davion, Jean‐Baptiste;
- Salort‐Campana, Emmanuelle;
- Arrassi, Azzeddine;
- Taouagh, Nadjib;
- Spinazzi, Marco
Publication type:
Article
Long‐term prognosis of fatty‐acid oxidation disorders in adults: Optimism despite the limited effective therapies available.
Published in:
European Journal of Neurology, 2024, v. 31, n. 2, p. 1, doi. 10.1111/ene.16138
By:
- Rouyer, Alice;
- Tard, Céline;
- Dessein, Anne‐Frédérique;
- Spinazzi, Marco;
- Bédat‐Millet, Anne‐Laure;
- Dimitri‐Boulos, Dalia;
- Nadaj‐Pakleza, Aleksandra;
- Chanson, Jean‐Baptiste;
- Nicolas, Guillaume;
- Douillard, Claire;
- Laforêt, Pascal
Publication type:
Article
Motor and respiratory decline in patients with late onset Pompe disease after cessation of enzyme replacement therapy during COVID‐19 pandemic.
Published in:
European Journal of Neurology, 2022, v. 29, n. 4, p. 1181, doi. 10.1111/ene.15222
By:
- Tard, Céline;
- Salort‐Campana, Emmanuelle;
- Michaud, Maud;
- Spinazzi, Marco;
- Nadaj Pakleza, Aleksandra;
- Durr, Hélène;
- Bouhour, Françoise;
- Lefeuvre, Claire;
- Thomas, Romain;
- Arrassi, Azzeddine;
- Taouagh, Nadjib;
- Solé, Guilhem;
- Laforêt, Pascal;
- P, Laforêt;
- D, Orlikowski;
- G, Bassez;
- D, Germain;
- JB, Noury;
- F, Zagnoli;
- C, Tard
Publication type:
Article
Deep phenotyping of an international series of patients with late‐onset dysferlinopathy.
Published in:
European Journal of Neurology, 2021, v. 28, n. 6, p. 2092, doi. 10.1111/ene.14821
By:
- Fernández‐Eulate, Gorka;
- Querin, Giorgia;
- Moore, Ursula;
- Behin, Anthony;
- Masingue, Marion;
- Bassez, Guillaume;
- Leonard‐Louis, Sarah;
- Laforêt, Pascal;
- Maisonobe, Thierry;
- Merle, Philippe‐Edouard;
- Spinazzi, Marco;
- Solé, Guilhem;
- Kuntzer, Thierry;
- Bedat‐Millet, Anne‐Laure;
- Salort‐Campana, Emmanuelle;
- Attarian, Shahram;
- Péréon, Yann;
- Feasson, Leonard;
- Graveleau, Julie;
- Nadaj‐Pakleza, Aleksandra
Publication type:
Article
A novel deletion in the GTPase domain of OPA1 causes defects in mitochondrial morphology and distribution, but not in function.
Published in:
Human Molecular Genetics, 2008, v. 17, n. 21, p. 3291, doi. 10.1093/hmg/ddn225
By:
- Spinazzi, Marco;
- Cazzola, Silvia;
- Bortolozzi, Mario;
- Baracca, Alessandra;
- Loro, Emanuele;
- Casarin, Alberto;
- Solaini, Giancarlo;
- Sgarbi, Gianluca;
- Casalena, Gabriella;
- Cenacchi, Giovanna;
- Malena, Adriana;
- Frezza, Christian;
- Carrara, Franco;
- Angelini, Corrado;
- Scorrano, Luca;
- Salviati, Leonardo;
- Vergani, Lodovica
Publication type:
Article

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