Publications by authors named "Dietz Rating"

41Publications

Endocrine and Growth Abnormalities in 4H Leukodystrophy Caused by Variants in POLR3A, POLR3B, and POLR1C.

Authors:
Félixe Pelletier Stefanie Perrier Ferdy K Cayami Amytice Mirchi Stephan Saikali Luan T Tran Nicole Ulrick Kether Guerrero Emmanouil Rampakakis Rosalina M L van Spaendonk Sakkubai Naidu Daniela Pohl William T Gibson Michelle Demos Cyril Goizet Ingrid Tejera-Martin Ana Potic Brent L Fogel Bernard Brais Michel Sylvain Guillaume Sebire Charles Marques Lourenço Joshua L Bonkowsky Coriene Catsman-Berrevoets Pedro S Pinto Sandya Tirupathi Petter Strømme Ton de Grauw Dorota Gieruszczak-Bialek Ingeborg Krägeloh-Mann Hanna Mierzewska Heike Philippi Julia Rankin Tahir Atik Brenda Banwell William S Benko Astrid Blaschek Annette Bley Eugen Boltshauser Drago Bratkovic Klara Brozova Icíar Cimas Christopher Clough Bernard Corenblum Argirios Dinopoulos Gail Dolan Flavio Faletra Raymond Fernandez Janice Fletcher Maria Eugenia Garcia Garcia Paolo Gasparini Janina Gburek-Augustat Dolores Gonzalez Moron Aline Hamati Inga Harting Christoph Hertzberg Alan Hill Grace M Hobson A Micheil Innes Marcelo Kauffman Susan M Kirwin Gerhard Kluger Petra Kolditz Urania Kotzaeridou Roberta La Piana Eriskay Liston William McClintock Meriel McEntagart Fiona McKenzie Serge Melançon Anjum Misbahuddin Mohnish Suri Fernando I Monton Sebastien Moutton Raymond P J Murphy Miriam Nickel Hüseyin Onay Simona Orcesi Ferda Özkınay Steffi Patzer Helio Pedro Sandra Pekic Mercedes Pineda Marfa Amy Pizzino Barbara Plecko Bwee Tien Poll-The Vera Popovic Dietz Rating Marie-France Rioux Norberto Rodriguez Espinosa Anne Ronan John R Ostergaard Elsa Rossignol Rocio Sanchez-Carpintero Anna Schossig Nesrin Senbil Laura K Sønderberg Roos Cathy A Stevens Matthis Synofzik László Sztriha Daniel Tibussek Dagmar Timmann Davide Tonduti Bart P van de Warrenburg Maria Vázquez-López Sunita Venkateswaran Pontus Wasling Evangeline Wassmer Richard I Webster Gert Wiegand Grace Yoon Joost Rotteveel Raphael Schiffmann Marjo van der Knaap Adeline Vanderver Gabriel Á Martos-Moreno Constantin Polychronakos Nicole I Wolf Geneviève Bernard

J Clin Endocrinol Metab 2020 Oct 1. Epub 2020 Oct 1.

Department of Neurology and Neurosurgery, McGill University, Montreal, QC, Canada.

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http://dx.doi.org/10.1210/clinem/dgaa700DOI Listing
October 2020

ATAD1 encephalopathy and stiff baby syndrome: a recognizable clinical presentation.

Brain 2018 06;141(6):e49

Pediatric Neurology and Metabolic Medicine, Center for Pediatric and Adolescent Medicine, and Center for Rare Disorders, Heidelberg University Hospital, Heidelberg, Germany.

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https://academic.oup.com/brain/article/141/6/e49/4969523
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http://dx.doi.org/10.1093/brain/awy095DOI Listing
June 2018

Identification of biallelic LRRK1 mutations in osteosclerotic metaphyseal dysplasia and evidence for locus heterogeneity.

J Med Genet 2016 08 7;53(8):568-74. Epub 2016 Apr 7.

Laboratory for Bone and Joint Diseases, RIKEN Center for Integrative Medical Sciences, Tokyo, Japan Department of Orthopaedics, National Rehabilitation Center for Disabled Children, Tokyo, Japan.

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http://dx.doi.org/10.1136/jmedgenet-2016-103756DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5769692PMC
August 2016

Prof. Bengt Hagberg (1923-2015).

Neuropediatrics 2015 Dec 4;46(6):433-4. Epub 2015 Nov 4.

Department of Pediatric Neurology, University Children's Hospital Tübingen, Germany.

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http://dx.doi.org/10.1055/s-0035-1566446DOI Listing
December 2015

Efficacy and tolerability of methylprednisolone pulse therapy in childhood epilepsies other than infantile spasms.

Neuropediatrics 2014 Dec 3;45(6):378-85. Epub 2014 Sep 3.

University Children's Hospital, Heidelberg, Germany.

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http://dx.doi.org/10.1055/s-0034-1387817DOI Listing
December 2014

Levetiracetam: safety and efficacy in neonatal seizures.

Eur J Paediatr Neurol 2011 Jan 19;15(1):1-7. Epub 2010 Nov 19.

Department of Pediatric Neurology, University Children's Hospital Dresden, Fetscherstrasse 74, 01307 Dresden, Germany.

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http://dx.doi.org/10.1016/j.ejpn.2010.10.003DOI Listing
January 2011

Levetiracetam in the treatment of neonatal seizures: a pilot study.

Seizure 2010 Apr 4;19(3):185-9. Epub 2010 Feb 4.

Department of Pediatric Neurology, University Children's Hospital, Heidelberg, Germany.

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http://dx.doi.org/10.1016/j.seizure.2010.01.003DOI Listing
April 2010

Adjunctive levetiracetam in infants and young children with refractory partial-onset seizures.

Epilepsia 2009 May 21;50(5):1141-9. Epub 2009 Feb 21.

Children's Hospital at Vanderbilt, Nashville, Tennessee 37232, USA.

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http://dx.doi.org/10.1111/j.1528-1167.2008.01981.xDOI Listing
May 2009

Abnormal myelination in Angelman syndrome.

Eur J Paediatr Neurol 2009 May 24;13(3):271-6. Epub 2008 Jun 24.

Department of Neuroradiology, University Hospital Heidelberg, Germany.

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http://dx.doi.org/10.1016/j.ejpn.2008.04.005DOI Listing
May 2009

Treatment of neuroblastoma-related opsoclonus-myoclonus-ataxia syndrome with high-dose dexamethasone pulses.

Pediatr Blood Cancer 2008 Mar;50(3):683-7

Department of Pediatric Oncology, Hematology and Immunology, University of Heidelberg, Germany.

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http://dx.doi.org/10.1002/pbc.21107DOI Listing
March 2008

MEG versus EEG: influence of background activity on interictal spike detection.

J Clin Neurophysiol 2006 Dec;23(6):498-508

Departments of Pediatric Neurology, University of Heidelberg, Heidelberg, Germany.

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http://dx.doi.org/10.1097/01.wnp.0000240873.69759.ccDOI Listing
December 2006

MR imaging-based volumetry in patients with early-treated phenylketonuria.

AJNR Am J Neuroradiol 2005 Aug;26(7):1681-5

Division of Neuroradiology, Department of Neurology, University of Heidelberg Medical Center, Heidelberg, Germany.

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August 2005

Diffuse cortical necrosis in a neonate with incontinentia pigmenti and an encephalitis-like presentation.

AJNR Am J Neuroradiol 2005 Jun-Jul;26(6):1580-2

Department of Pediatric Neurology, University Children's Hospital Heidelberg, Germany.

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December 2005

Optimized spectrophotometric assay for the completely activated pyruvate dehydrogenase complex in fibroblasts.

Clin Chem 2005 Jan 18;51(1):151-60. Epub 2004 Nov 18.

Division of Metabolic and Endocrine Diseases, University Children's Hospital Heidelberg, 69120 Heidelberg, Germany.

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http://dx.doi.org/10.1373/clinchem.2004.033852DOI Listing
January 2005

Headache and backache after lumbar puncture in children and adolescents: a prospective study.

Pediatrics 2004 Jun;113(6):1588-92

University Pediatric Hospital, Department of Child Neurology, Heidelberg, Germany.

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http://dx.doi.org/10.1542/peds.113.6.1588DOI Listing
June 2004

Strict bed rest following lumbar puncture in children and adolescents is of no benefit.

Neurology 2004 Mar;62(6):1003-5

Department of Child Neurology, University Pediatric Hospital, University of Heidelberg, Germany.

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http://www.neurology.org/content/62/6/1003.full.pdf
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http://dx.doi.org/10.1212/01.wnl.0000115387.67958.0fDOI Listing
March 2004

Combination of caudal myxopapillary ependymoma and dermal sinus: a single shared embryologic lesion?

Dev Med Child Neurol 2003 Aug;45(8):568-70

Department of Paediatric Neurology, University Children's Hospital, Heidelberg, Germany.

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http://dx.doi.org/10.1017/s0012162203001038DOI Listing
August 2003

Cerebral energy metabolism in phenylketonuria: findings by quantitative In vivo 31P MR spectroscopy.

Pediatr Res 2003 Apr 20;53(4):654-62. Epub 2003 Feb 20.

Department of Pediatric Neurology, Division of Metabolic and Endocrine Diseases, University of Heidelberg, Im Neuenheimer Feld 150, Germany.

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http://dx.doi.org/10.1203/01.PDR.0000055867.83310.9EDOI Listing
April 2003

The influence of sulthiame on EEG in children with benign childhood epilepsy with centrotemporal spikes (BECTS).

Epilepsia 2003 Feb;44(2):215-20

Department of Pediatric Neurology, Children's Hospital, Ruprecht-Karls-University, Heidelberg, Germany.

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http://dx.doi.org/10.1046/j.1528-1157.2003.51001.xDOI Listing
February 2003

Prosopagnosia in a preschool child with Asperger syndrome.

Dev Med Child Neurol 2003 Jan;45(1):55-7

Department of Paediatric Neurology, Children's Hospital, University of Heidelberg, Im Neuenheimer Feld 150, D-69120 Heidelberg, Germany.

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January 2003

Parenteral amino acids increase albumin and skeletal muscle protein fractional synthetic rates in premature newborn minipigs.

J Pediatr Gastroenterol Nutr 2002 Sep;35(3):270-4

Division of Neonatology, Department of Pediatrics, University of Heidelberg, Im Neuenheimer Feld 150, 69120 Heidelberg, Germany.

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http://dx.doi.org/10.1097/00005176-200209000-00007DOI Listing
September 2002