CIAO1 and MMS19 deficiency: A lethal neurodegenerative phenotype caused by cytosolic Fe-S cluster protein assembly disorders
van Karnebeek, Clara D.M., Tarailo-Graovac, Maja, Leen, René, Meinsma, Rutger, Correard, Solenne, Jansen-Meijer, Judith, Prykhozhij, Sergey V., Pena, Izabella A., Ban, Kevin, Schock, Sarah, Saxena, Vishal, Pras-Raves, Mia L., Drögemöller, Britt I., Grootemaat, Anita E., van der Wel, Nicole N., Dobritzsch, Doreen, Roseboom, Winfried, Schomakers, Bauke V., Jaspers, Yorrick R.J., Zoetekouw, Lida, Roelofsen, Jeroen, Ferreira, Carlos R., van der Lee, Robin, Ross, Colin J., Kochan, Jakub, McIntyre, Rebecca L., van Klinken, Jan B., van Weeghel, Michel, Kramer, Gertjan, Weschke, Bernhard, Labrune, Philippe, Willemsen, Michèl A., Riva, Daria, Garavaglia, Barbara, Moeschler, John B., Filiano, James J., Ekker, Marc, Berman, Jason N., Dyment, David, Vaz, Frédéric M., Wasserman, Wyeth W., Houtkooper, Riekelt H., van Kuilenburg, André B.P.
Published in Genetics in medicine (01.06.2024)
Published in Genetics in medicine (01.06.2024)
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Journal Article
Multiple Granular Cell Tumors in a Child with Noonan Syndrome
RAMASWAMY, PREETHI V., STORM, CRAIG A., FILIANO, JAMES J., DINULOS, JAMES G. H.
Published in Pediatric dermatology (01.03.2010)
Published in Pediatric dermatology (01.03.2010)
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Journal Article
Therapeutic plasma exchange in Streptococcus pneumoniae-associated hemolytic uremic syndrome: A case report
Petras, Melissa L., Dunbar, Nancy M., Filiano, James J., Braga, Matthew S., Chobanian, Michael C., Szczepiorkowski, Zbigniew M.
Published in Journal of clinical apheresis (2012)
Published in Journal of clinical apheresis (2012)
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Journal Article
Decreased Muscarinic Receptor Binding in the Arcuate Nucleus in Sudden Infant Death Syndrome
Kinney, Hannah C., Filiano, James J., Sleeper, Lynn A., Mandell, Frederick, Valdes-Dapena, Marie, White, W. Frost
Published in Science (American Association for the Advancement of Science) (08.09.1995)
Published in Science (American Association for the Advancement of Science) (08.09.1995)
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Journal Article
Prolongation of the laryngeal chemoreflex after inhibition of the rostral ventral medulla in piglets: a role in SIDS?
van der Velde, Liesbeth, Curran, Aidan K, Filiano, James J, Darnall, Robert A, Bartlett, Donald, Jr, Leiter, J. C
Published in Journal of applied physiology (1985) (01.05.2003)
Published in Journal of applied physiology (1985) (01.05.2003)
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Journal Article
Amantadine for levodopa-induced choreic dyskinesia in compound heterozygotes for GCH1 mutations
Furukawa, Yoshiaki, Filiano, James J., Kish, Stephen J.
Published in Movement disorders (01.10.2004)
Published in Movement disorders (01.10.2004)
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Journal Article
Decreased Kainate Receptor Binding in the Arcuate Nucleus of the Sudden Infant Death Syndrome
PANIGRAHY, ASHOK, FILIANO, JAMES J, SLEEPER, LYNN A, MANDELL, FREDERICK, VALDES-DAPENA, MARIE, KROUS, HENRY F, RAVA, LUCIANA A, White, W Frost, KINNEY, HANNAH C
Published in Journal of neuropathology and experimental neurology (01.11.1997)
Published in Journal of neuropathology and experimental neurology (01.11.1997)
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Journal Article
The development of the medullary serotonergic system in the piglet
Niblock, Mary M., Kinney, Hannah C., Luce, Catherine J., Belliveau, Richard A., Filiano, James J.
Published in Autonomic neuroscience (27.02.2004)
Published in Autonomic neuroscience (27.02.2004)
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Journal Article
Cardiomyopathy associated with neurologic disorders and mitochondrial phenotype
Marín-García, José, Goldenthal, Michael J, Filiano, James J
Published in Journal of child neurology (01.10.2002)
Published in Journal of child neurology (01.10.2002)
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Journal Article
Anatomic relationships of the human arcuate nucleus of the medulla : A diI-labeling study
ZEC, N, FILIANO, J. J, KINNEY, H. C
Published in Journal of neuropathology and experimental neurology (01.05.1997)
Published in Journal of neuropathology and experimental neurology (01.05.1997)
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Conference Proceeding
Journal Article
Mitochondrial DNA depletion in Leigh syndrome
Filiano, James J, Goldenthal, Michael J, Mamourian, Alexander C, Hall, Cara C, Marı́n-Garcı́a, José
Published in Pediatric neurology (01.03.2002)
Published in Pediatric neurology (01.03.2002)
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Journal Article
Tandem mass spectrometry and newborn screening: pilot data and review
Filiano, James J., Bellimer, Sherry Gray, Kunz, Pamela L.
Published in Pediatric neurology (01.03.2002)
Published in Pediatric neurology (01.03.2002)
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Journal Article
Alpha2 Receptor Binding in the Medulla Oblongata in the Sudden Infant Death Syndrome
MANSOURI, JALEH, PANIGRAHY, ASHOK, FILIANO, JAMES J, SLEEPER, LYNN A, JOHN, WALTER M. ST, KINNEY, HANNAH C
Published in Journal of neuropathology and experimental neurology (01.02.2001)
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Published in Journal of neuropathology and experimental neurology (01.02.2001)
Journal Article
Comparative anatomical assessment of the piglet as a model for the developing human medullary serotonergic system
Niblock, Mary M., Luce, Catherine J., Belliveau, Richard A., Paterson, David S., Kelly, Michelle L., Sleeper, Lynn A., Filiano, James J., Kinney, Hannah C.
Published in Brain Research Reviews (01.12.2005)
Published in Brain Research Reviews (01.12.2005)
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Journal Article
Mitochondrial dysfunction in skeletal muscle of children with cardiomyopathy
Marin-Garcia, J, Ananthakrishnan, R, Goldenthal, M J, Filiano, J J, Perez-Atayde, A
Published in Pediatrics (Evanston) (01.02.1999)
Published in Pediatrics (Evanston) (01.02.1999)
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Journal Article
Characterization of hypoxia-induced ventilatory depression in newborn piglets
St-Jacques, Rene, Filiano, James J., Darnall, Robert A., St-John, Walter M.
Published in Experimental physiology (01.07.2003)
Published in Experimental physiology (01.07.2003)
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Journal Article