Publications by authors named "Martina Baethmann"

14Publications

Phenotype, treatment practice and outcome in the cobalamin-dependent remethylation disorders and MTHFR deficiency: Data from the E-HOD registry.

J Inherit Metab Dis 2019 03 17;42(2):333-352. Epub 2019 Feb 17.

Inherited Metabolic Diseases Clinic, Section of Clinical Genetics and Metabolism, University of Colorado Denver, Aurora, Colorado.

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http://dx.doi.org/10.1002/jimd.12041DOI Listing
March 2019

Novel DCC variants in congenital mirror movements and evaluation of disease-associated missense variants.

Eur J Med Genet 2018 Jun 7;61(6):329-334. Epub 2018 May 7.

Institut für Humangenetik, Universitätsklinikum Hamburg-Eppendorf, Hamburg, Germany. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2018.01.010DOI Listing
June 2018

Confirmation of mutations in as a novel cause of vitamin B -dependent epilepsy.

J Med Genet 2017 12 8;54(12):809-814. Epub 2017 Apr 8.

radiz - "Rare Disease Initiative Zurich, Clinical Research Priority Program for Rare Diseases University of Zurich", University of Zurich, Zurich, Switzerland.

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http://dx.doi.org/10.1136/jmedgenet-2017-104521DOI Listing
December 2017

A novel ATP1A3 mutation with unique clinical presentation.

J Neurol Sci 2014 Jun 25;341(1-2):133-5. Epub 2014 Mar 25.

Interdisciplinary Pediatric Center for Children with Developmental Disabilities and Severe Chronic Disorders, University Medical Center, Georg August University, Göttingen, Germany. Electronic address:

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http://dx.doi.org/10.1016/j.jns.2014.03.034DOI Listing
June 2014

[Syllabus neuropediatrics structures, quality and perspectives of outpatient, inpatient and rehabilitative care version 2.0 (part 1)].

Neuropediatrics 2014 Apr 24;45(2):133-6. Epub 2014 Mar 24.

Department of Neuropediatrics, Goethe University, Frankfurt, Germany.

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http://dx.doi.org/10.1055/s-0034-1372305DOI Listing
April 2014

The expanding clinical and genetic spectrum of ATP1A3-related disorders.

Neurology 2014 Mar 12;82(11):945-55. Epub 2014 Feb 12.

From the Department of Pediatrics and Adolescent Medicine (H.R., A.O., P.H., L.S., R.S., J.G., K.B.), Division of Pediatric Neurology, University Medical Center Göttingen, Georg August University; Department of Pediatrics (M.B.), Hospital Dritter Orden, Munich, Germany; Departments of Pediatric Neurology (I.C.), Hospital Maria Pia do Centro Hospitalar do Porto, Portugal; 4IRCCS Stella Maris (S.F.), Calambrone, Pisa; Department of Clinical and Experimental Medicine (S.F.), University of Pisa, Italy; Neurogenetics Unit (C.M.L.), Department of Neurology, School of Medicine of Ribeirao Preto, University of Sao Paulo, Brazil; and Children's Hospital of Eastern Ontario (S.S.), Ottawa, Canada.

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http://dx.doi.org/10.1212/WNL.0000000000000212DOI Listing
March 2014

Is the Children's Depression Inventory Short version a valid screening tool in pediatric care? A comparison to its full-length version.

J Psychosom Res 2012 Nov 1;73(5):369-74. Epub 2012 Oct 1.

Department of Child and Adolescent Psychiatry, Psychosomatics and Psychotherapy, Ludwig-Maximilians-University Munich, and Department of Paediatrics, Hospital Dritter Orden, Germany.

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http://dx.doi.org/10.1016/j.jpsychores.2012.08.016DOI Listing
November 2012

Children's Depression Screener (ChilD-S): development and validation of a depression screening instrument for children in pediatric care.

Child Psychiatry Hum Dev 2012 Feb;43(1):137-51

Department of Child and Adolescent Psychiatry, Psychosomatics and Psychotherapy, University Hospital, Ludwig-Maximilians-University Munich, Munich, Germany.

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http://dx.doi.org/10.1007/s10578-011-0254-1DOI Listing
February 2012

Late onset Pompe disease: clinical and neurophysiological spectrum of 38 patients including long-term follow-up in 18 patients.

Neuromuscul Disord 2007 Oct 23;17(9-10):698-706. Epub 2007 Jul 23.

Haunersche Kinderklinik, Childrens Hospital, Ludwig-Maximilians-University, Lindwurmstr. 4, 80337 Munich, Germany.

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http://dx.doi.org/10.1016/j.nmd.2007.06.002DOI Listing
October 2007