M. Elleder - Publications, H-index & Citations

M. Elleder

Charles University Prague

38H指数

303论文数

7.2K被引数

收录论文 35

发表时间

Systemic AL amyloidosis with unusual cutaneous presentation unmasked by carotenoderma

AMYLOID-JOURNAL OF PROTEIN FOLDING DISORDERS

IF7.4

2013-11-15

PREAI

Hulkova, Helena; Svojanovsky, Jan; Sevela, Kamil; Krusova, Darja; Hanus, Josef; Vezda, Petr; Soucek, Miroslav; Marova, Ivana; Feit, Josef; Zambo, Iva; Kovacevicova, Milica; Vlaskova, Hana; Kostrouchova, Veronika; Novak, Petr; Kostrouch, Zdenek; Elleder, Milan

Clinical picture of S-adenosylhomocysteine hydrolase deficiency resembles phosphomannomutase 2 deficiency

MOLECULAR GENETICS AND METABOLISM

IF3.5

2012-11-01

PREAI

Honzik, Tomas; Magner, Martin; Krijt, Jakub; Sokolova, Jitka; Vugrek, Oliver; Beluzic, Robert; Baric, Ivo; Hansikova, Hana; Elleder, Milan; Vesela, Katerina; Bauerova, Lenka; Ondruskova, Nina; Jesina, Pavel; Zeman, Jiri; Kozich, Viktor

Impact of mutation in TMEM70 gene on respiratory chain complexes and mitochondrial ultrastructure

BIOCHIMICA ET BIOPHYSICA ACTA-BIOENERGETICS

IF2.7

2012-10-01

OAAI

Kratochvilova, H.; Tesarova, M.; Honzik, T.; Hajkova, Z.; Hansikova, H.; Sladkova, J.; Hulkova, H.; Elleder, M.; Zeman, J.

Distinctive histopathological features that support a diagnosis of cholesterol ester storage disease in liver biopsy specimens

HISTOPATHOLOGY

IF4.1

2012-05-23

PREAI

Hulkova, Helena; Elleder, Milan

Glycosphingolipid profile of the apical pole of human placental capillaries: The relevancy of the observed data to Fabry disease

GLYCOBIOLOGY

IF3.3

2012-02-07

OAAI

Hulkova, Helena; Ledvinova, Jana; Kuchar, Ladislav; Smid, Frantisek; Honzikova, Jitka; Elleder, Milan

Mutations in DNAJC5, Encoding Cysteine-String Protein Alpha, Cause Autosomal-Dominant Adult-Onset Neuronal Ceroid Lipofuscinosis (vol 89, pg 241, 2011)

AMERICAN JOURNAL OF HUMAN GENETICS

IF8.1

2011-10-01

OAAI

Noskova, Lenka; Stranecky, Viktor; Hartmannova, Hana; Pristoupilova, Anna; Baresova, Veronika; Ivanek, Robert; Hulkova, Helena; Jahnova, Helena; van der Zee, Julie; Staropoli, John F.; Sims, Katherine B.; Tyynelae, Jaana; Van Broeckhoven, Christine; Nijssen, Peter C. G.; Mole, Sara E.; Elleder, Milan; Kmoch, Stanislav

Large Proteoglycan Complexes and Disturbed Collagen Architecture in the Corneal Extracellular Matrix of Mucopolysaccharidosis Type VII (Sly Syndrome)

INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE

IF4.7

2011-08-24

OAAI

Young, Robert D.; Liskova, Petra; Pinali, Christian; Palka, Barbara P.; Palos, Michalis; Jirsova, Katerina; Hrdlickova, Enkela; Tesarova, Marketa; Elleder, Milan; Zeman, Jiri; Meek, Keith M.; Knupp, Carlo; Quantock, Andrew J.

Mutations in DNAJC5, Encoding Cysteine-String Protein Alpha, Cause Autosomal-Dominant Adult-Onset Neuronal Ceroid Lipofuscinosis

AMERICAN JOURNAL OF HUMAN GENETICS

IF8.1

2011-08-01

231

OAAI

Noskova, Lenka; Stranecky, Viktor; Hartmannova, Hana; Pristoupilova, Anna; Baresova, Veronika; Ivanek, Robert; Hulkova, Helena; Jahnova, Helena; van der Zee, Julie; Staropoli, John F.; Sims, Katherine B.; Tyynela, Jaana; Van Broeckhoven, Christine; Nijssen, Peter C. G.; Mole, Sara E.; Elleder, Milan; Kmoch, Stanislav

Placenta analysis of prenatally diagnosed patients reveals early GAG storage in mucopolysaccharidoses II and VI

MOLECULAR GENETICS AND METABOLISM

IF3.5

2011-06-01

PREAI

Baldo, Guilherme; Matte, Ursula; Artigalas, Osvaldo; Schwartz, Ida Vanessa; Burin, Maira Graeff; Ribeiro, Erlane; Horovitz, Dafne; Magalhaes, Tatiana Pacheco; Elleder, Milan; Giugliani, Roberto

A novel transgenic mouse model of CBS-deficient homocystinuria does not incur hepatic steatosis or fibrosis and exhibits a hypercoagulative phenotype that is ameliorated by betaine treatment

MOLECULAR GENETICS AND METABOLISM

IF3.5

2010-10-01

OAAI

Maclean, Kenneth N.; Sikora, Jakub; Kozich, Viktor; Jiang, Hua; Greiner, Lori S.; Kraus, Eva; Krijt, Jakub; Overdier, Katherine H.; Collard, Renata; Brodsky, Gary L.; Meltesen, Lynne; Crnic, Linda S.; Allen, Robert H.; Stabler, Sally P.; Elleder, Milan; Rozen, Rima; Patterson, David; Kraus, Jan P.

Cystathionine beta-synthase null homocystinuric mice fail to exhibit altered hemostasis or lowering of plasma homocysteine in response to betaine treatment

MOLECULAR GENETICS AND METABOLISM

IF3.5

2010-10-01

OAAI

Maclean, Kenneth N.; Sikora, Jakub; Kozich, Viktor; Jiang, Hua; Greiner, Lori S.; Kraus, Eva; Krijt, Jakub; Crnic, Linda S.; Allen, Robert H.; Stabler, Sally P.; Elleder, Milan; Kraus, Jan P.

Oligodendroglia from ADSL-deficient patient produce SAICAribotide and SAMP

MOLECULAR GENETICS AND METABOLISM

IF3.5

2010-10-01

PREAI

Zidkova, L.; Krijt, J.; Sladkova, J.; Hlobilkova, A.; Magner, M.; Zikanova, M.; Kmoch, S.; Friedecky, D.; Zeman, J.; Elleder, M.; Adam, T.

Association between cardiac energy metabolism and gain of left ventricular mass in Fabry disease

INTERNATIONAL JOURNAL OF CARDIOLOGY

IF3.2

2010-10-01

PREAI

Palecek, Tomas; Bultas, Jan; Hajek, Milan; Karetova, Debora; Kuchynka, Petr; Kautzner, Josef; Elleder, Milan; Linhart, Ales

Expression and lysosomal targeting of CLN7, a major facilitator superfamily transporter associated with variant late-infantile neuronal ceroid lipofuscinosis

HUMAN MOLECULAR GENETICS

IF3.2

2010-09-07

OAAI

Sharifi, A.; Kousi, M.; Sagne, C.; Bellenchi, G. C.; Morel, L.; Darmon, M.; Hulkova, H.; Ruivo, R.; Debacker, C.; El Mestikawy, S.; Elleder, M.; Lehesjoki, A. -E.; Jalanko, A.; Gasnier, B.; Kyttala, A.

Dominant Renin Gene Mutations Associated with Early-Onset Hyperuricemia, Anemia, and Chronic Kidney Failure

AMERICAN JOURNAL OF HUMAN GENETICS

IF8.1

2009-08-01

135

OAAI

Zivna, Martina; Hulkova, Helena; Matignon, Marie; Hodanova, Katerina; Vylet'al, Petr; Kalbacova, Marie; Baresova, Veronika; Sikora, Jakub; Blazkova, Hana; Zivny, Jan; Ivanek, Robert; Stranecky, Viktor; Sovova, Jana; Claes, Kathleen; Lerut, Evelyne; Fryns, Jean-Pierre; Hart, P. Suzanne; Hart, Thomas C.; Adams, Jeremy N.; Pawtowski, Audrey; Clemessy, Maud; Gasc, Jean-Marie; Guebler, Marie-Claire; Antignac, Corinne; Elleder, Milan; Kapp, Katja; Grimbert, Philippe; Bleyer, Anthony J.; Kmoch, Stanislav

Mutations in CLN7/MFSD8 are a common cause of variant late-infantile neuronal ceroid lipofuscinosis

BRAIN

IF11.7

2009-02-05

106

OAAI

Kousi, Maria; Siintola, Eija; Dvorakova, Lenka; Vlaskova, Hana; Turnbull, Julie; Topcu, Meral; Yuksel, Deniz; Gokben, Sarenur; Minassian, Berge A.; Elleder, Milan; Mole, Sara E.; Lehesjoki, Anna-Elina

Right Ventricular Involvement in Fabry Disease

JOURNAL OF THE AMERICAN SOCIETY OF ECHOCARDIOGRAPHY

IF6

2008-11-01

PREAI

Palecek, Tomas; Dostalova, Gabriela; Kuchynka, Petr; Karetova, Debora; Bultas, Jan; Elleder, Milan; Linhart, Ales

Subpial astrocytosis and focal leptomeningeal angiotropic astrocytosis leading to vascular compression: observations made in a case of mitochondrial encephalopathy

ACTA NEUROPATHOLOGICA

IF9.3

2008-10-08

PREAI

Hulkova, Helena; Druga, Rastislav; Ondrejovic, Pavol; Elleder, Milan

Replacement of α-galactosidase A in Fabry disease:: effect on fibroblast cultures compared with biopsied tissues of treated patients

VIRCHOWS ARCHIV

IF3.1

2008-03-20

OAAI

Keslova-Veselikova, Jana; Hulkova, Helena; Dobrovolny, Robert; Asfaw, Befekadu; Poupetova, Helena; Berna, Linda; Sikora, Jakub; Golan, Lubor; Ledvinova, Jana; Elleder, Milan

Atypical CLN2 with later onset and prolonged course:: a neuropathologic study showing different sensitivity of neuronal subpopulations to TPP1 deficiency

ACTA NEUROPATHOLOGICA

IF9.3

2008-02-19

OAAI

Elleder, Milan; Dvorakova, Lenka; Stolnaja, Larisa; Vlaskova, Hana; Hulkova, Helena; Druga, Rastislav; Poupetova, Helena; Kostalova, Eva; Mikulastik, Josef

研究方向