Cornelis Jakobs - Publications, H-index & Citations

Cornelis Jakobs

Vrije Universiteit Amsterdam

74H指数

417论文数

1.7W被引数

收录论文 143

发表时间

ATADI encephalopathy and stiff baby syndrome: a recognizable clinical presentation

BRAIN

IF11.7

2018-04-12

OAAI

Wolf, Nicole I.; Zschocke, Johannes; Jakobs, Cornelis; Rating, Dietz; Hoffmann, Georg F.

Natural history of succinic semialdehyde dehydrogenase deficiency through adulthood

NEUROLOGY

IF8.5

2015-09-08

OAAI

Lapalme-Remis, Samuel; Lewis, Evan Cole; De Meulemeester, Christine; Chakraborty, Pranesh; Gibson, K. Michael; Torres, Carlos; Guberman, Alan; Salomons, Gajja S.; Jakobs, Cornelis; Ali-Ridha, Andre; Parviz, Mahsa; Pearl, Phillip L.

Neuropsychiatric morbidity in adolescent and adult succinic semialdehyde dehydrogenase deficiency patients

CNS SPECTRUMS

IF4.1

2014-11-07

OAAI

Knerr, Ina; Gibson, K. Michael; Jakobs, Cornelis; Pearl, Phillip L.

Novel cases of D-2-hydroxyglutaric aciduria with IDH1 or IDH2 mosaic mutations identified by amplicon deep sequencing

JOURNAL OF MEDICAL GENETICS

IF3.7

2013-09-18

PREAI

Nota, Benjamin; Hamilton, Eline M.; Sie, Daoud; Ozturk, Senay; van Dooren, Silvy J. M.; Ojeda, Matilde R. Fernandez; Jakobs, Cornelis; Christensen, Ernst; Kirk, Edwin P.; Sykut-Cegielska, Jolanta; Lund, Allan M.; van der Knaap, Marjo S.; Salomons, Gajja S.

Deficiency in SLC25A1, Encoding the Mitochondrial Citrate Carrier, Causes Combined D-2-and L-2-Hydroxyglutaric Aciduria

AMERICAN JOURNAL OF HUMAN GENETICS

IF8.1

2013-04-01

120

OAAI

Nota, Benjamin; Struys, Eduard A.; Pop, Ana; Jansen, Erwin E.; Ojeda, Matilde R. Fernandez; Kanhai, Warsha A.; Kranendijk, Martijn; van Dooren, Silvy J. M.; Bevova, Marianna R.; Sistermans, Erik A.; Nieuwint, Aggie W. M.; Barth, Magalie; Ben-Omran, Tawfeg; Hoffmann, Georg F.; de Lonlay, Pascale; McDonald, Marie T.; Meberg, Alf; Muntau, Ania C.; Nuoffer, Jean-Marc; Parini, Rossella; Read, Marie-Helene; Renneberg, Axel; Santer, Rene; Strahleck, Thomas; van Schaftingen, Emile; van der Knaap, Marjo S.; Jakobs, Cornelis; Salomons, Gajja S.

Plasma choline and betaine correlate with serum folate, plasma S-adenosyl-methionine and S-adenosyl-homocysteine in healthy volunteers

CLINICAL CHEMISTRY AND LABORATORY MEDICINE

IF3.7

2013-01-01

PREAI

Imbard, Apolline; Smulders, Yvo M.; Barto, Rob; Smith, Desiree E. C.; Kok, Robert M.; Jakobs, Cornelis; Blom, Henk J.

Lysine restricted diet for pyridoxine-dependent epilepsy: First evidence and future trials

MOLECULAR GENETICS AND METABOLISM

IF3.5

2012-11-01

OAAI

van Karnebeek, Clara D. M.; Hartmann, Hans; Jaggumantri, Sravan; Bok, Levinus A.; Cheng, Barb; Connolly, Mary; Coughlin, Curtis R., II; Das, Anibh M.; Gospe, Sidney M., Jr.; Jakobs, Cornelis; van der Lee, Johanna H.; Mercimek-Mahmutoglu, Saadet; Meyer, Uta; Struys, Eduard; Sinclair, Graham; Van Hove, Johan; Collet, Jean-Paul; Plecko, Barbara R.; Stockler, Sylvia

Long-term outcome in pyridoxine-dependent epilepsy

DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY

IF4.3

2012-07-13

OAAI

Bok, Levinus A.; Halbertsma, Feico J.; Houterman, Saskia; Wevers, Ron A.; Vreeswijk, Charlotte; Jakobs, Cornelis; Struys, Eduard; Van der Hoeven, Johan H.; Sival, Deborah A.; Willemsen, Michel A.

Asymmetric dimethylarginine in adults with cystathionine β-synthase deficiency

ATHEROSCLEROSIS

IF5.7

2012-06-01

PREAI

Rocha, Monica S.; Teerlink, Tom; Janssen, Mirian C. H.; Kluijtmans, Leo A. J.; Smulders, Yvo; Jakobs, Cornelis; de Almeida, Isabel Tavares; Rivera, Isabel; Castro, Rita; Blom, Henk J.

Developmental progress and creatine restoration upon long-term creatine supplementation of a patient with arginine:glycine amidinotransferase deficiency

MOLECULAR GENETICS AND METABOLISM

IF3.5

2012-05-01

PREAI

Ndika, Joseph D. T.; Johnston, Kathreen; Barkovich, James A.; Wirt, Michael D.; O'Neill, Patricia; Betsalel, Ofir T.; Jakobs, Cornelis; Salomons, Gajja S.

Profound Neonatal Hypoglycemia and Lactic Acidosis Caused by Pyridoxine-Dependent Epilepsy

PEDIATRICS

IF6.4

2012-05-01

PREAI

Mercimek-Mahmutoglu, Saadet; Horvath, Gabriella A.; Coulter-Mackie, Marion; Nelson, Tanya; Waters, Paula J.; Sargent, Michael; Struys, Eduard; Jakobs, Cornelis; Stockler-Ipsiroglu, Sylvia; Connolly, Mary B.

Contiguous deletion of SLC6A8 and BAP31 in a patient with severe dystonia and sensorineural deafness

MOLECULAR GENETICS AND METABOLISM

IF3.5

2012-05-01

PREAI

Osaka, Hitoshi; Takagi, Atsushi; Tsuyusaki, Yu; Wada, Takahito; Iai, Mizue; Yamashita, Sumimasa; Shimbo, Hiroko; Saitsu, Hirotomo; Salomons, Gajja S.; Jakobs, Cornelis; Aida, Noriko; Toshihiro, Shinka; Kuhara, Tomiko; Matsumoto, Naomichi

Atypical pyridoxine-dependent epilepsy due to a pseudoexon in ALDH7A1

MOLECULAR GENETICS AND METABOLISM

IF3.5

2012-04-01

PREAI

Milh, Mathieu; Pop, Ana; Kanhai, Warsha; Villeneuve, Nathalie; Cano, Aline; Struys, Eduard A.; Salomons, Gajja S.; Chabrol, Brigitte; Jakobs, Cornelis

Detection of variants in SLC6A8 and functional analysis of unclassified missense variants

MOLECULAR GENETICS AND METABOLISM

IF3.5

2012-04-01

PREAI

Betsalel, Ofir T.; Pop, Ana; Rosenberg, Efraim H.; Fernandez-Ojeda, Matilde; Jakobs, Cornelis; Salomons, Gajja S.

Evaluation of two year treatment outcome and limited impact of arginine restriction in a patient with GAMT deficiency

MOLECULAR GENETICS AND METABOLISM

IF3.5

2012-01-01

PREAI

Mercimek-Mahmutoglu, Saadet; Dunbar, Mary; Friesen, Andrea; Garret, Susan; Hartnett, Carol; Huh, Linda; Sinclair, Graham; Stockler, Sylvia; Wellington, Stephen; Pouwels, Petra J. W.; Salomons, Gajja S.; Jakobs, Cornelis

Pyridoxal phosphate-responsive seizures in a patient with cerebral folate deficiency (CFD) and congenital deafness with labyrinthine aplasia, microtia and microdontia (LAMM)

MOLECULAR GENETICS AND METABOLISM

IF3.5

2011-11-01

PREAI

Dill, Patricia; Schneider, Jacques; Weber, Peter; Trachsel, Daniel; Tekin, Mustafa; Jakobs, Cornelis; Thoeny, Beat; Blau, Nenad

Adenosine Kinase Deficiency Disrupts the Methionine Cycle and Causes Hypermethioninemia, Encephalopathy, and Abnormal Liver Function

AMERICAN JOURNAL OF HUMAN GENETICS

IF8.1

2011-10-01

105

OAAI

Bjursell, Magnus K.; Blom, Henk J.; Cayuela, Jordi Asin; Engvall, Martin L.; Lesko, Nicole; Balasubramaniam, Shanti; Brandberg, Goran; Halldin, Maria; Falkenberg, Maria; Jakobs, Cornelis; Smith, Desiree; Struys, Eduard; von Dobeln, Ulrika; Gustafsson, Claes M.; Lundeberg, Joakim; Wedell, Anna

Pyridoxine dependent epilepsy and antiquitin deficiency Clinical and molecular characteristics and recommendations for diagnosis, treatment and follow-up

MOLECULAR GENETICS AND METABOLISM

IF3.5

2011-09-01

233

PREAI

Stockler, Sylvia; Plecko, Barbara; Gospe, Sidney M., Jr.; Coulter-Mackie, Marion; Connolly, Mary; van Karnebeek, Clara; Mercimek-Mahmutoglu, Saadet; Hartmann, Hans; Scharer, Gunter; Struijs, Eduard; Tein, Ingrid; Jakobs, Cornelis; Clayton, Peter; Van Hove, Johan L. K.

Pyruvate Kinase Triggers a Metabolic Feedback Loop that Controls Redox Metabolism in Respiring Cells

CELL METABOLISM

IF30.9

2011-09-01

192

OAAI

Gruening, Nana-Maria; Rinnerthaler, Mark; Bluemlein, Katharina; Muelleder, Michael; Wamelink, Mirjam M. C.; Lehrach, Hans; Jakobs, Cornelis; Breitenbach, Michael; Ralser, Markus

Succinic Semialdehyde Dehydrogenase: Biochemical-Molecular-Clinical Disease Mechanisms, Redox Regulation, and Functional Significance

ANTIOXIDANTS & REDOX SIGNALING

IF6.1

2011-08-01

OAAI

Kim, Kyung-Jin; Pearl, Phillip L.; Jensen, Kimmo; Snead, O. Carter; Malaspina, Patrizia; Jakobs, Cornelis; Gibson, K. Michael

研究方向