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Items: 1 to 50 of 60

1.

Genetic assessment and folate receptor autoantibodies in infantile-onset cerebral folate deficiency (CFD) syndrome.

Ramaekers VT, Segers K, Sequeira JM, Koenig M, Van Maldergem L, Bours V, Kornak U, Quadros EV.

Mol Genet Metab. 2018 May;124(1):87-93. doi: 10.1016/j.ymgme.2018.03.001. Epub 2018 Mar 3.

PMID:
29661558
2.

The basis for folinic acid treatment in neuro-psychiatric disorders.

Ramaekers VT, Sequeira JM, Quadros EV.

Biochimie. 2016 Jul;126:79-90. doi: 10.1016/j.biochi.2016.04.005. Epub 2016 Apr 8. Review.

PMID:
27068282
3.

Autosomal-Recessive Intellectual Disability with Cerebellar Atrophy Syndrome Caused by Mutation of the Manganese and Zinc Transporter Gene SLC39A8.

Boycott KM, Beaulieu CL, Kernohan KD, Gebril OH, Mhanni A, Chudley AE, Redl D, Qin W, Hampson S, Küry S, Tetreault M, Puffenberger EG, Scott JN, Bezieau S, Reis A, Uebe S, Schumacher J, Hegele RA, McLeod DR, Gálvez-Peralta M, Majewski J, Ramaekers VT; Care4Rare Canada Consortium, Nebert DW, Innes AM, Parboosingh JS, Abou Jamra R.

Am J Hum Genet. 2015 Dec 3;97(6):886-93. doi: 10.1016/j.ajhg.2015.11.002.

4.

Folinic acid treatment for schizophrenia associated with folate receptor autoantibodies.

Ramaekers VT, Thöny B, Sequeira JM, Ansseau M, Philippe P, Boemer F, Bours V, Quadros EV.

Mol Genet Metab. 2014 Dec;113(4):307-14. doi: 10.1016/j.ymgme.2014.10.002. Epub 2014 Oct 12.

PMID:
25456743
5.

The diagnostic utility of folate receptor autoantibodies in blood.

Sequeira JM, Ramaekers VT, Quadros EV.

Clin Chem Lab Med. 2013 Mar 1;51(3):545-54. doi: 10.1515/cclm-2012-0577. Review.

PMID:
23314538
6.

Role of folate receptor autoantibodies in infantile autism.

Ramaekers VT, Quadros EV, Sequeira JM.

Mol Psychiatry. 2013 Mar;18(3):270-1. doi: 10.1038/mp.2012.22. Epub 2012 Apr 10. No abstract available.

PMID:
22488256
7.

Effect of antiepileptic drugs and reactive oxygen species on folate receptor 1 (FOLR1)-dependent 5-methyltetrahydrofolate transport.

Opladen T, Blau N, Ramaekers VT.

Mol Genet Metab. 2010 Sep;101(1):48-54. doi: 10.1016/j.ymgme.2010.05.006. Epub 2010 Jun 16.

PMID:
20619709
8.

Cerebral folate deficiency and CNS inflammatory markers in Alpers disease.

Hasselmann O, Blau N, Ramaekers VT, Quadros EV, Sequeira JM, Weissert M.

Mol Genet Metab. 2010 Jan;99(1):58-61. doi: 10.1016/j.ymgme.2009.08.005.

PMID:
19766516
9.

Seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance (SeSAME syndrome) caused by mutations in KCNJ10.

Scholl UI, Choi M, Liu T, Ramaekers VT, Häusler MG, Grimmer J, Tobe SW, Farhi A, Nelson-Williams C, Lifton RP.

Proc Natl Acad Sci U S A. 2009 Apr 7;106(14):5842-7. doi: 10.1073/pnas.0901749106. Epub 2009 Mar 16.

10.

Progressive encephalopathy in a child with cerebral folate deficiency syndrome.

Bonkowsky JL, Ramaekers VT, Quadros EV, Lloyd M.

J Child Neurol. 2008 Dec;23(12):1460-3. doi: 10.1177/0883073808318546. Epub 2008 Oct 14.

11.

Folate receptor autoimmunity and cerebral folate deficiency in low-functioning autism with neurological deficits.

Ramaekers VT, Blau N, Sequeira JM, Nassogne MC, Quadros EV.

Neuropediatrics. 2007 Dec;38(6):276-81. doi: 10.1055/s-2008-1065354.

PMID:
18461502
12.

Mitochondrial diseases associated with cerebral folate deficiency.

Garcia-Cazorla A, Quadros EV, Nascimento A, Garcia-Silva MT, Briones P, Montoya J, Ormazábal A, Artuch R, Sequeira JM, Blau N, Arenas J, Pineda M, Ramaekers VT.

Neurology. 2008 Apr 15;70(16):1360-2. doi: 10.1212/01.wnl.0000309223.98616.e4. No abstract available.

PMID:
18413591
13.

A milk-free diet downregulates folate receptor autoimmunity in cerebral folate deficiency syndrome.

Ramaekers VT, Sequeira JM, Blau N, Quadros EV.

Dev Med Child Neurol. 2008 May;50(5):346-52. doi: 10.1111/j.1469-8749.2008.02053.x. Epub 2008 Mar 19.

14.

Mitochondrial complex I encephalomyopathy and cerebral 5-methyltetrahydrofolate deficiency.

Ramaekers VT, Weis J, Sequeira JM, Quadros EV, Blau N.

Neuropediatrics. 2007 Aug;38(4):184-7.

PMID:
18058625
15.

Folate receptor autoantibodies and spinal fluid 5-methyltetrahydrofolate deficiency in Rett syndrome.

Ramaekers VT, Sequeira JM, Artuch R, Blau N, Temudo T, Ormazabal A, Pineda M, Aracil A, Roelens F, Laccone F, Quadros EV.

Neuropediatrics. 2007 Aug;38(4):179-83.

PMID:
18058624
16.

Analysis of 5-methyltetrahydrofolate in serum of healthy children.

Opladen T, Ramaekers VT, Heimann G, Blau N.

Mol Genet Metab. 2006 Jan;87(1):61-5. Epub 2005 Nov 28.

PMID:
16310391
17.

Autoantibodies to folate receptors in the cerebral folate deficiency syndrome.

Ramaekers VT, Rothenberg SP, Sequeira JM, Opladen T, Blau N, Quadros EV, Selhub J.

N Engl J Med. 2005 May 12;352(19):1985-91.

18.

Cerebral folate deficiency with developmental delay, autism, and response to folinic acid.

Moretti P, Sahoo T, Hyland K, Bottiglieri T, Peters S, del Gaudio D, Roa B, Curry S, Zhu H, Finnell RH, Neul JL, Ramaekers VT, Blau N, Bacino CA, Miller G, Scaglia F.

Neurology. 2005 Mar 22;64(6):1088-90.

PMID:
15781839
19.

White-matter disease in 18q deletion (18q-) syndrome: magnetic resonance spectroscopy indicates demyelination or increased myelin turnover rather than dysmyelination.

Häusler M, Anhuf D, Schüler H, Ramaekers VT, Thron A, Zerres K, Möller-Hartmann W.

Neuroradiology. 2005 Jan;47(1):83-6. Epub 2005 Jan 11.

PMID:
15645149
20.

Cerebral folate deficiency.

Ramaekers VT, Blau N.

Dev Med Child Neurol. 2004 Dec;46(12):843-51.

21.

Long-term outcome after neonatal parenchymatous brain lesions.

Häusler M, Merz U, Van Tuil C, Ramaekers VT.

Klin Padiatr. 2004 Jul-Aug;216(4):244-51.

PMID:
15284950
22.

Cervical cord exostosis compressing the axis in a boy with hereditary multiple exostoses. Case illustration.

Korinth MC, Ramaekers VT, Rohde V.

J Neurosurg. 2004 Feb;100(2 Suppl Pediatrics):223. No abstract available.

PMID:
14758956
23.

Flow cytometric cerebrospinal fluid analysis in children.

Häusler M, Sellhaus B, Schweizer K, Ramaekers VT, Opladen T, Kleines M.

Pathol Res Pract. 2003;199(10):667-75.

PMID:
14666969
24.

Reduced folate transport to the CNS in female Rett patients.

Ramaekers VT, Hansen SI, Holm J, Opladen T, Senderek J, Häusler M, Heimann G, Fowler B, Maiwald R, Blau N.

Neurology. 2003 Aug 26;61(4):506-15.

PMID:
12939425
25.

Oligophrenin 1 (OPHN1) gene mutation causes syndromic X-linked mental retardation with epilepsy, rostral ventricular enlargement and cerebellar hypoplasia.

Bergmann C, Zerres K, Senderek J, Rudnik-Schoneborn S, Eggermann T, Häusler M, Mull M, Ramaekers VT.

Brain. 2003 Jul;126(Pt 7):1537-44. Epub 2003 May 21. Review.

PMID:
12805098
26.

Inflammatory pseudotumors of the central nervous system: report of 3 cases and a literature review.

Häusler M, Schaade L, Ramaekers VT, Doenges M, Heimann G, Sellhaus B.

Hum Pathol. 2003 Mar;34(3):253-62. Review.

PMID:
12673560
28.

Mutations in the ganglioside-induced differentiation-associated protein-1 (GDAP1) gene in intermediate type autosomal recessive Charcot-Marie-Tooth neuropathy.

Senderek J, Bergmann C, Ramaekers VT, Nelis E, Bernert G, Makowski A, Züchner S, De Jonghe P, Rudnik-Schöneborn S, Zerres K, Schröder JM.

Brain. 2003 Mar;126(Pt 3):642-9.

PMID:
12566285
29.

Neurological complications of acute and persistent Epstein-Barr virus infection in paediatric patients.

Häusler M, Ramaekers VT, Doenges M, Schweizer K, Ritter K, Schaade L.

J Med Virol. 2002 Oct;68(2):253-63.

PMID:
12210416
30.

Encephalitis related to primary varicella-zoster virus infection in immunocompetent children.

Häusler M, Schaade L, Kemény S, Schweizer K, Schoenmackers C, Ramaekers VT.

J Neurol Sci. 2002 Mar 30;195(2):111-6.

PMID:
11897240
31.

Phenotypic variation of a novel nonsense mutation in the P0 intracellular domain.

Senderek J, Ramaekers VT, Zerres K, Rudnik-Schöneborn S, Schröder JM, Bergmann C.

J Neurol Sci. 2001 Nov 15;192(1-2):49-51.

PMID:
11701152
32.
34.

A novel neurodevelopmental syndrome responsive to 5-hydroxytryptophan and carbidopa.

Ramaekers VT, Senderek J, Häusler M, Häring M, Abeling N, Zerres K, Bergmann C, Heimann G, Blau N.

Mol Genet Metab. 2001 Jun;73(2):179-87.

PMID:
11386854
35.

Acute encephalopathy despite early therapy in a patient with homozygosity for E365K in the glutaryl-coenzyme A dehydrogenase gene.

Kölker S, Ramaekers VT, Zschocke J, Hoffmann GF.

J Pediatr. 2001 Feb;138(2):277-9.

PMID:
11174631
36.

X-linked dominant Charcot-Marie-Tooth neuropathy: clinical, electrophysiological, and morphological phenotype in four families with different connexin32 mutations(1).

Senderek J, Hermanns B, Bergmann C, Boroojerdi B, Bajbouj M, Hungs M, Ramaekers VT, Quasthoff S, Karch D, Schröder JM.

J Neurol Sci. 1999 Aug 15;167(2):90-101.

PMID:
10521546
37.

Early and late onset manifestations of cerebral vasculitis related to varicella zoster.

Häusler MG, Ramaekers VT, Reul J, Meilicke R, Heimann G.

Neuropediatrics. 1998 Aug;29(4):202-7.

PMID:
9762696
38.

X-linked dominant Charcot-Marie-Tooth disease: nerve biopsies allow morphological evaluation and detection of connexin32 mutations (Arg15Trp, Arg22Gln).

Senderek J, Bergmann C, Quasthoff S, Ramaekers VT, Schröder JM.

Acta Neuropathol. 1998 May;95(5):443-9.

PMID:
9600589
39.

Delayed-onset profound biotinidase deficiency.

Wolf B, Pomponio RJ, Norrgard KJ, Lott IT, Baumgartner ER, Suormala T, Ramaekers VT, Coskun T, Tokatli A, Ozalp I, Hymes J.

J Pediatr. 1998 Feb;132(2):362-5.

PMID:
9506660
40.

Increased plasma malondialdehyde associated with cerebellar structural defects.

Ramaekers VT, Bosman B, Jansen GA, Wanders RJ.

Arch Dis Child. 1997 Sep;77(3):231-4.

41.

Genetic disorders and cerebellar structural abnormalities in childhood.

Ramaekers VT, Heimann G, Reul J, Thron A, Jaeken J.

Brain. 1997 Oct;120 ( Pt 10):1739-51. Review.

PMID:
9365367
42.

Central pontine myelinolysis associated with acquired folate depletion.

Ramaekers VT, Reul J, Kusenbach G, Thron A, Heimann G.

Neuropediatrics. 1997 Apr;28(2):126-30.

PMID:
9208415
43.

Biotinidase Km-variants: detection and detailed biochemical investigations.

Suormala T, Ramaekers VT, Schweitzer S, Fowler B, Laub MC, Schwermer C, Bachmann J, Baumgartner ER.

J Inherit Metab Dis. 1995;18(6):689-700.

PMID:
8750606
44.

Mesencephalic and third ventricle cysts: diagnosis and management in four cases.

Ramaekers VT, Reul J, Siller V, Thron A.

J Neurol Neurosurg Psychiatry. 1994 Oct;57(10):1216-20.

45.

Selenium deficiency triggering intractable seizures.

Ramaekers VT, Calomme M, Vanden Berghe D, Makropoulos W.

Neuropediatrics. 1994 Aug;25(4):217-23.

PMID:
7824095
46.

Cerebral hyperperfusion following episodes of bradycardia in the preterm infant.

Ramaekers VT, Casaer P, Daniels H.

Early Hum Dev. 1993 Oct;34(3):199-208.

PMID:
8287805
47.

Clinical application of a noninvasive multi-electrode array EMG for the recording of single motor unit activity.

Ramaekers VT, Disselhorst-Klug C, Schneider J, Silny J, Forst J, Forst R, Kotlarek F, Rau G.

Neuropediatrics. 1993 Jun;24(3):134-8.

PMID:
8355817
48.

Congenital cervical spinal muscular atrophy: a non-familial, non progressive condition of the upper limbs.

Hageman G, Ramaekers VT, Hilhorst BG, Rozeboom AR.

J Neurol Neurosurg Psychiatry. 1993 Apr;56(4):365-8.

49.

Recovery from neurological deficits following biotin treatment in a biotinidase Km variant.

Ramaekers VT, Brab M, Rau G, Heimann G.

Neuropediatrics. 1993 Apr;24(2):98-102.

PMID:
8352834
50.

The influence of blood transfusion on brain blood flow autoregulation among stable preterm infants.

Ramaekers VT, Casaer P, Daniels H, Marchal G.

Early Hum Dev. 1992 Oct;30(3):211-20.

PMID:
1468384

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