Search Results - "Smit, Leo M.E."

Bi-allelic Mutations in KLHL7 Cause a Crisponi/CISS1-like Phenotype Associated with Early-Onset Retinitis Pigmentosa by Angius, Andrea, Uva, Paolo, Buers, Insa, Oppo, Manuela, Puddu, Alessandro, Onano, Stefano, Persico, Ivana, Loi, Angela, Marcia, Loredana, Höhne, Wolfgang, Cuccuru, Gianmauro, Fotia, Giorgio, Deiana, Manila, Marongiu, Mara, Atalay, Hatice Tuba, Inan, Sibel, El Assy, Osama, Smit, Leo M.E., Okur, Ilyas, Boduroglu, Koray, Utine, Gülen Eda, Kılıç, Esra, Zampino, Giuseppe, Crisponi, Giangiorgio, Crisponi, Laura, Rutsch, Frank

“…Crisponi syndrome (CS)/cold-induced sweating syndrome type 1 (CISS1) is a very rare autosomal-recessive disorder characterized by a complex phenotype with high…”
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Differential effects of atomoxetine on executive functioning and lexical decision in attention-deficit/hyperactivity disorder and reading disorder by de Jong, Christien G W, Van De Voorde, Séverine, Roeyers, Herbert, Raymaekers, Ruth, Allen, Albert J, Knijff, Simone, Verhelst, Helene, Temmink, Alfons H, Smit, Leo M E, Rodriques-Pereira, Rob, Vandenberghe, Dirk, van Welsen, Inge, ter Schuren, Liesbeth, Al-Hakim, Mazim, Amin, Azad, Vlasveld, Laurens, Oosterlaan, Jaap, Sergeant, Joseph A

“…The effects of a promising pharmacological treatment for attention-deficit/hyperactivity disorder (ADHD), atomoxetine, were studied on executive functions in…”
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Bi-allelic Mutations in KLHL7 Cause a Crisponi/CISS1-like Phenotype Associated with Early-Onset Retinitis Pigmentosa by Angius, Andrea, Uva, Paolo, Buers, Insa, Oppo, Manuela, Puddu, Alessandro, Onano, Stefano, Persico, Ivana, Loi, Angela, Marcia, Loredana, Höhne, Wolfgang, Cuccuru, Gianmauro, Fotia, Giorgio, Deiana, Manila, Marongiu, Mara, Atalay, Hatice Tuba, Inan, Sibel, El Assy, Osama, Smit, Leo M.E., Okur, Ilyas, Boduroglu, Koray, Utine, Gülen Eda, Kılıç, Esra, Zampino, Giuseppe, Crisponi, Giangiorgio, Crisponi, Laura, Rutsch, Frank

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Pontine tegmental cap dysplasia: a novel brain malformation with a defect in axonal guidance by Barth, Peter G., Majoie, Charles B., Caan, Matthan W.A., Weterman, Marian A.J., Kyllerman, Marten, Smit, Leo M.E., Kaplan, Richard A., Haas, Richard H., Baas, Frank, Cobben, Jan-Maarten, Poll-The, Bwee Tien

“…Four unrelated children are described with an identical brainstem and cerebellar malformation on MRI. The key findings are: vermal hypoplasia, subtotal absence…”
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Neonatal porencephaly and adult stroke related to mutations in collagen IV A1 by van der Knaap, Marjo S., Smit, Leo M. E., Barkhof, Frederik, Pijnenburg, Yolande A. L., Zweegman, Sonja, Niessen, Hans W. M., Imhof, Saskia, Heutink, Peter

“…Objective The objective of this study was to describe leukoencephalopathy, lacunar infarcts, microbleeds and macrobleeds in the context of a collagen IV A1…”
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Unusual variants of Alexander's disease by van der Knaap, Marjo S., Salomons, Gajja S., Li, Rong, Franzoni, Emilio, Gutiérrez-Solana, Luiz González, Smit, Leo M. E., Robinson, Richard, Ferrie, Collin D., Cree, Bruce, Reddy, Alyssa, Thomas, Neil, Banwell, Brenda, Barkhof, Frederik, Jakobs, Cornelis, Johnson, Anne, Messing, Albee, Brenner, Michael

“…The purpose of this study was to describe unusual variants of Alexander's disease. We studied 10 patients who did not meet previously established magnetic…”
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Significant behavioral disturbances in succinic semialdehyde dehydrogenase (SSADH) deficiency (Gamma-Hydroxybutyric aciduria) by Gibson, K.Michael, Gupta, Maneesh, Pearl, Phillip L., Tuchman, Mendel, Vezina, L.Gilbert, Snead, O.Carter, Smit, Leo M.E., Jakobs, Cornelis

“…We report two adult patients with succinic semialdehyde dehydrogenase deficiency, manifesting as γ-hydroxybutyric aciduria. For both, the clinical presentation…”
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Deficiency of the voltage-dependent anion channel : A novel cause of mitochondriopathy by HUIZING, M, RUITTENBEEK, W, THINNES, F. P, DEPINTO, V, WENDEL, U, TRIJBELS, F. J. M, SMIT, L. M. E, TER LAAK, H. J, VAN DEN HEUVEL, L. P

“…A patient with a deficient voltage-dependent anion channel (VDAC) is reported, presenting clinically with psychomotor retardation and minor dysmorphic…”
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A (G-to-A) mutation in the initiation codon of the proteolipid protein gene causing a relatively mild form of Pelizaeus-Merzbacher disease in a Dutch family by SISTERMANS, E. A, DE WIJS, I. J, DE COO, R. F. M, SMIT, L. M. E, MENKO, F. H, VAN OOST, B. A

“…Pelizaeus-Merzbacher disease (PMD) is an X-linked recessive disorder that is characterized by dysmyelination of the central nervous system resulting from…”
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Malformations of the spinal cord in 53 patients with spina bifida studied by magnetic resonance imaging by AZIMULLAH, P. C, SMIT, L. M. E, RIETVELD-KNOL, E, VALK, J

“…The incidence of associated malformations of the hindbrain and spinal cord in patients with spina bifida was investigated by a clinical and magnetic resonance…”
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Karyotyping urine sediment cells confirms trisomy 12 mosaicism detected at amniocentesis by Leschot, N J, Wilmsen-Linders, E J, van Geijn, H P, Samsom, J F, Smit, L M

“…A newborn is described in whom trisomy 12 mosaicism was detected prenatally at third trimester amniocentesis during the fourth pregnancy of a 34-year-old…”
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A congenital myasthenic disorder with paucity of secondary synaptic clefts: deficiency and altered distribution of acetylcholine receptors by Smit, L M, Veldman, H, Jennekens, F G, Molenaar, P C, Oen, B S

“…Congenital myasthenia (CM) constitutes a heterogeneous group of disorders with different underlying defects. The authors investigated a case of CM, presenting…”
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