Publications by authors named "Janina Gburek-Augustat"

11Publications

Hemiplegic Migraine in Glut1 Deficiency Syndrome and Paroxysmal Dyskinesia at Ketogenic Diet Induction: Case Report and Literature Review.

Mov Disord Clin Pract 2020 Nov 6;7(8):965-970. Epub 2020 Oct 6.

Division of Neuropaediatrics, Hospital for Children and Adolescents University Hospital Leipzig Leipzig Germany.

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November 2020

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 Sébire 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 S van der Knaap Adeline Vanderver Gabriel Á Martos-Moreno Constantin Polychronakos Nicole I Wolf Geneviève Bernard

J Clin Endocrinol Metab 2021 Jan;106(2):e660-e674

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

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January 2021

The "Ivy-Sign" in Moyamoya Disease-From MRI Pattern to Diagnosis.

Neuropediatrics 2020 08 31;51(4):241-244. Epub 2020 Mar 31.

Division of Neuropaediatrics, Hospital for Children and Adolescents, University Leipzig, Leipzig, Germany.

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August 2020

Comparative Analysis of Cerebral Magnetic Resonance Imaging Changes in Nontreated Infantile, Juvenile and Adult Patients with Niemann-Pick Disease Type C.

Neuropediatrics 2020 02 22;51(1):37-44. Epub 2019 Oct 22.

Department of Neuropaediatrics, Developmental Neurology, Social Paediatrics, University Children's Hospital Tuebingen, Tuebingen, Germany.

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February 2020

Epilepsy is not a mandatory feature of STXBP1 associated ataxia-tremor-retardation syndrome.

Eur J Paediatr Neurol 2016 Jul 28;20(4):661-5. Epub 2016 Apr 28.

Department of Medical Genetics and Applied Genomics, University of Tübingen, Germany; Rare Disease Center Tübingen, University of Tübingen, Germany.

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July 2016

Phenotype and frequency of STUB1 mutations: next-generation screenings in Caucasian ataxia and spastic paraplegia cohorts.

Orphanet J Rare Dis 2014 Apr 17;9:57. Epub 2014 Apr 17.

Department of Neurodegenerative Diseases, Hertie-Institute for Clinical Brain Research, University of Tübingen, Hoppe-Seyler-Str, 3, 72076 Tübingen, Germany.

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April 2014

Teaching neuroimages: hypomyelinating leukodystrophy with hypodontia due to POLR3B: look into a leukodystrophy's mouth.

Neurology 2013 Nov;81(19):e145

From the Department of Neurodegenerative Diseases, Hertie-Institute for Clinical Brain Research (M.S.), German Research Center for Neurodegenerative Diseases (DZNE) (M.S.), and Department of Neuroradiology (T.L.), University of Tübingen, Germany; Departments of Pediatrics, Neurology, and Neurosurgery (G.B.), Montreal Children's Hospital, McGill University Heath Center, Canada; and the Department of Pediatric and Developmental Neurology (J.G.-A.), University Children's Hospital, Tübingen, Germany.

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November 2013