Janbernd Kirschner

Janbernd Kirschner

UNVERIFIED PROFILE

Are you Janbernd Kirschner?   Register this Author

Register author
Janbernd Kirschner

Janbernd Kirschner

Publications by authors named "Janbernd Kirschner"

Are you Janbernd Kirschner?   Register this Author

94Publications

2726Reads

21Profile Views

Decision-Making Regarding Ventilator Support in Children with SMA Type 1-A Cross-Sectional Survey among Physicians.

Neuropediatrics 2019 Dec 13;50(6):359-366. Epub 2019 Aug 13.

Department of Neuropediatrics and Muscle Disorders, Medical Center, University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1055/s-0039-1694986DOI Listing
December 2019

Advances in Treatment of Spinal Muscular Atrophy - New Phenotypes, New Challenges, New Implications for Care.

J Neuromuscul Dis 2019 Nov 5. Epub 2019 Nov 5.

Department of Neuropediatrics and Muscle Disorders, Medical Center - University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.3233/JND-190424DOI Listing
November 2019

De novo variant in SCN4A causes neonatal sodium channel myotonia with general muscle stiffness and respiratory failure.

Neuromuscul Disord 2019 Nov 13;29(11):907-909. Epub 2019 Sep 13.

Department of Neuropediatrics and Muscle Disorders, Medical Center - University of Freiburg, Faculty of Medicine, University of Freiburg, Germany; Department of Neuropediatrics, University Hospital Bonn, University of Bonn, Bonn, Germany. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.nmd.2019.09.001DOI Listing
November 2019

Health-Related Quality of Life in Patients with Adult-Onset Myotonic Dystrophy Type 1: A Systematic Review.

Patient 2019 08;12(4):365-373

Department of Neuropediatrics and Muscle Disorders, Medical Centre, University of Freiburg, Faculty of Medicine, Freiburg, Germany.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s40271-019-00357-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6598969PMC
August 2019

Discrepancy in redetermination of copy numbers in children with SMA.

Neurology 2019 Aug 24;93(6):267-269. Epub 2019 Jun 24.

From the Department of Neuropediatrics and Muscle Disorders (D.C.S., A.P., T.L., J.K.), Medical Center-University of Freiburg, Faculty of Medicine, University of Freiburg; and the Institute of Human Genetics (J.B., B.W.), Center for Molecular Medicine Cologne, Institute for Genetics, and Center for Rare Diseases Cologne, University of Cologne, Germany.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1212/WNL.0000000000007836DOI Listing
August 2019

De-duplicating patient records from three independent data sources reveals the incidence of rare neuromuscular disorders in Germany.

Orphanet J Rare Dis 2019 06 24;14(1):152. Epub 2019 Jun 24.

Department of Neuropediatrics and Muscle Disorders, Medical Center- University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1186/s13023-019-1125-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6591958PMC
June 2019

Quality of life of patients with spinal muscular atrophy: A systematic review.

Eur J Paediatr Neurol 2019 May 21;23(3):347-356. Epub 2019 Mar 21.

Department of Neuropediatrics and Muscle Disorders, Medical Center - University of Freiburg, Faculty of Medicine, Freiburg, Germany.

View Article

Download full-text PDF

Source
https://linkinghub.elsevier.com/retrieve/pii/S10903798193000
Publisher Site
http://dx.doi.org/10.1016/j.ejpn.2019.03.004DOI Listing
May 2019

Hereditary neuralgic amyotrophy in childhood caused by duplication within the SEPT9 gene: A family study.

Cytoskeleton (Hoboken) 2019 01 10;76(1):131-136. Epub 2018 Oct 10.

Division of Pediatric Hematology and Oncology, Department of Pediatrics and Adolescent Medicine, University Medical Center, Medical Faculty, University of Freiburg, Freiburg, Germany.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/cm.21479DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6585727PMC
January 2019

SMArtCARE - A platform to collect real-life outcome data of patients with spinal muscular atrophy.

Orphanet J Rare Dis 2019 01 21;14(1):18. Epub 2019 Jan 21.

Department of Neuropediatrics and Muscle Disorders, Medical Center- University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany.

View Article

Download full-text PDF

Source
https://ojrd.biomedcentral.com/articles/10.1186/s13023-019-0
Publisher Site
http://dx.doi.org/10.1186/s13023-019-0998-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6341722PMC
January 2019

Safety and Treatment Effects of Nusinersen in Longstanding Adult 5q-SMA Type 3 - A Prospective Observational Study.

J Neuromuscul Dis 2019 ;6(4):453-465

Friedrich-Baur-Institute, Department of Neurology, Ludwig-Maximilians-University of Munich, Munich, Germany.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.3233/JND-190416DOI Listing
January 2019

Duchenne muscular dystrophy and caregiver burden: a systematic review.

Dev Med Child Neurol 2018 10 14;60(10):987-996. Epub 2018 Jun 14.

Department of Neuropediatrics and Muscle Disorders, Faculty of Medicine, Medical Center - University of Freiburg, Freiburg, Germany.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/dmcn.13934DOI Listing
October 2018

CD59 deficiency presenting as polyneuropathy and Moyamoya syndrome with endothelial abnormalities of small brain vessels.

Eur J Paediatr Neurol 2018 Sep 13;22(5):870-877. Epub 2018 Apr 13.

Center for Pediatrics, Medical Center - University of Freiburg, Faculty of Medicine, University of Freiburg, Germany; Center for Pediatrics, Department of Neuropediatrics and Muscle Disorders, Medical Center - University of Freiburg, Faculty of Medicine, University of Freiburg, Germany.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ejpn.2018.04.003DOI Listing
September 2018

A mild case of molybdenum cofactor deficiency defines an alternative route of MOCS1 protein maturation.

J Inherit Metab Dis 2018 03 24;41(2):187-196. Epub 2018 Jan 24.

Department of General Pediatrics, Adolescent Medicine and Neonatology, Faculty of Medicine, Medical Center - University of Freiburg, Mathildenstr. 1, 79106, Freiburg, Germany.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s10545-018-0138-7DOI Listing
March 2018

Nusinersen versus Sham Control in Later-Onset Spinal Muscular Atrophy.

N Engl J Med 2018 02;378(7):625-635

From the Department of Pediatric Neurology, Catholic University, Rome (E.M., E.S.M.); the Department of Neurology, Boston Children's Hospital, Boston (B.T.D.), and Biogen, Cambridge (R.F., S.G., W.F.) - both in Massachusetts; the Departments of Neurology (C.A.C., J.M., D.C.D.), Pediatrics (C.A.C., D.C.D.), and Rehabilitation and Regenerative Medicine (J.M.), Columbia University Medical Center, New York; the Department of Neurology, Stanford School of Medicine, Stanford (J.W.D.), David Geffen School of Medicine at University of California, Los Angeles, Los Angeles (P.B.S.), and Ionis Pharmaceuticals, Carlsbad (K.M.B., Q.Y., C.F.B., E.S.) - all in California; Children's Hospital-London Health Sciences Centre, London, ON, Canada (C.C.); the Department of Neurology, Washington University School of Medicine, St. Louis (A.M.C.); the Department of Pediatrics, University of Texas Southwestern Medical Center, Dallas (S.T.I.); the Department of Neuropediatrics and Muscle Disorders, Medical Center-University of Freiburg, Faculty of Medicine, Freiburg, Germany (J.K.); the Department of Pediatrics, Ann and Robert H. Lurie Children's Hospital, Chicago (N.L.K.); the Institute of Medical Genetics and Department of Pediatrics, Tokyo Women's Medical University, Tokyo (K.S.); the Department of Pediatrics, Gothenburg University, Queen Silvia Children's Hospital, Gothenburg, Sweden (M.T.); and the Division of Neurology, Department of Pediatrics, Nemours Children's Hospital, Orlando, FL (R.S.F.).

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1056/NEJMoa1710504DOI Listing
February 2018

Single-center experience with intrathecal administration of Nusinersen in children with spinal muscular atrophy type 1.

Eur J Paediatr Neurol 2018 Jan 21;22(1):122-127. Epub 2017 Nov 21.

Department of Neuropediatrics and Muscle Disorders, Medical Center - University of Freiburg, Faculty of Medicine, University of Freiburg, Germany. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ejpn.2017.11.001DOI Listing
January 2018

Mitochondrial fatty acid biosynthesis and muscle fiber plasticity in very long-chain acyl-CoA dehydrogenase-deficient mice.

FEBS Lett 2018 01 4;592(2):219-232. Epub 2018 Jan 4.

Department of General Pediatrics, Center for Paediatrics and Adolescent Medicine, Faculty of Medicine and Medical Centre, University of Freiburg, Germany.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/1873-3468.12940DOI Listing
January 2018

Nusinersen versus Sham Control in Infantile-Onset Spinal Muscular Atrophy.

N Engl J Med 2017 11;377(18):1723-1732

From the Division of Neurology, Department of Pediatrics, Nemours Children's Hospital, Orlando, FL (R.S.F.); the Department of Pediatric Neurology, Catholic University, Rome (E.M.); the Department of Neurology, Boston Children's Hospital, Boston (B.T.D.), and Biogen, Cambridge (Z.J.Z., S.G., W.F.) - both in Massachusetts; the Department of Neurology, St. Louis Children's Hospital, St. Louis (A.M.C.); the Department of Pediatrics, Ann and Robert H. Lurie Children's Hospital, Chicago (N.L.K.); the Department of Neuropediatrics and Muscle Disorders, Medical Center-University of Freiburg, Faculty of Medicine, Freiburg, Germany (J.K.); the Departments of Neurology (C.A.C., J.M.) and Rehabilitation and Regenerative Medicine (J.M.), Columbia University, and the Departments of Neurology and Pediatrics, Columbia University Medical Center (D.C.D.V.), New York; the Institute of Medical Genetics and Department of Pediatrics, Tokyo Women's Medical University, Tokyo (K.S.); the Institute of Motion, Paris (L.S.); the Department of Clinical and Molecular Genetics and Rare Diseases Unit, Hospital Vall d'Hebron, and Centro de Investigacíon Biomédica en Red Enfermedades Raras (CIBERER), Barcelona (E.T.); the Department of Pediatrics, Hacettepe University School of Medicine, Ankara, Turkey (H.T.); the Department of Pediatrics, Gothenburg University, Queen Silvia Children's Hospital, Gothenburg, Sweden (M.T.); the Department of Physical Therapy, Children's Hospital of Philadelphia, Philadelphia (A.M.G.); and Ionis Pharmaceuticals, Carlsbad, CA (K.B., C.F.B., E.S.).

View Article

Download full-text PDF

Source
http://www.nejm.org/doi/10.1056/NEJMoa1702752
Publisher Site
http://dx.doi.org/10.1056/NEJMoa1702752DOI Listing
November 2017

Expanding Phenotype of De Novo Mutations in GNAO1: Four New Cases and Review of Literature.

Neuropediatrics 2017 10 19;48(5):371-377. Epub 2017 Jun 19.

Department of Neuropediatrics and Muscle Disorders, Medical Center, University of Freiburg, Freiburg, Germany.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1055/s-0037-1603977DOI Listing
October 2017

A comparative study of care practices for young boys with Duchenne muscular dystrophy between Japan and European countries: Implications of early diagnosis.

Neuromuscul Disord 2017 Oct 6;27(10):894-904. Epub 2017 Jul 6.

Department of Clinical Research Support, Translational Medical Center, National Center of Neurology and Psychiatry, 4-1-1 Ogawa-higashi, Kodaira, Tokyo 187-8551, Japan. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.nmd.2017.06.557DOI Listing
October 2017

Diagnosis and New Treatment Avenues in Spinal Muscular Atrophy.

Neuropediatrics 2017 08 1;48(4):273-281. Epub 2017 Jun 1.

Department of Neuropediatrics and Muscle Disorders, Medical Center - University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1055/s-0037-1603517DOI Listing
August 2017

Outcomes in Duchenne muscular dystrophy: nature, nurture, culture-or all three?

Dev Med Child Neurol 2017 08 6;59(8):780-781. Epub 2017 Jun 6.

Department of Neuropediatrics and Muscle Disorders, Medical Center, Faculty of Medicine, University of Freiburg, Freiburg, Germany.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/dmcn.13474DOI Listing
August 2017

Congenital Muscular Dystrophies and Myopathies: An Overview and Update.

Neuropediatrics 2017 08 2;48(4):247-261. Epub 2017 Jul 2.

Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland, United States.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1055/s-0037-1604154DOI Listing
August 2017

A multi-source approach to determine SMA incidence and research ready population.

J Neurol 2017 Jul 20;264(7):1465-1473. Epub 2017 Jun 20.

John Walton Muscular Dystrophy Research Centre, Institute of Genetic Medicine, Newcastle University, Central Parkway, Newcastle upon Tyne, NE1 3BZ, UK.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s00415-017-8549-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5502065PMC
July 2017

Predictors of Health-Related Quality of Life in boys with Duchenne muscular dystrophy from six European countries.

J Neurol 2017 Apr 7;264(4):709-723. Epub 2017 Feb 7.

Department of Neuropediatrics and Muscle Disorders, University Medical Center Freiburg, Mathildenstraße 1, 79116, Freiburg, Germany.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s00415-017-8406-2DOI Listing
April 2017

Long-Term Follow-Up on Health-Related Quality of Life After Mechanical Circulatory Support in Children.

Pediatr Crit Care Med 2017 02;18(2):176-182

1Department of Congenital Heart Disease and Pediatric Cardiology, University Heart Centre Freiburg, Freiburg, Germany. 2Department of Cardiovascular Surgery, University Heart Centre Freiburg, Freiburg, Germany. 3Department of Neuropediatric and Muscle Disorders, University Medical Center, Freiburg, Germany.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1097/PCC.0000000000001019DOI Listing
February 2017

Differential Analysis of Bone Density in Children and Adolescents with Neuromuscular Disorders and Cerebral Palsy.

Neuropediatrics 2015 Dec 26;46(6):385-91. Epub 2015 Sep 26.

Department of Neuropediatrics and Muscular Diseases, Center of Pediatrics and Adolescent Medicine, University Medical Center, Freiburg, Germany.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1055/s-0035-1563695DOI Listing
December 2015

Zidovudine induces visceral mitochondrial toxicity and intra-abdominal fat gain in a rodent model of lipodystrophy.

Antivir Ther 2014 28;19(8):783-92. Epub 2014 Feb 28.

Department of Rheumatology and Clinical Immunology, University Medical Center Freiburg, Freiburg, Germany.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.3851/IMP2758DOI Listing
September 2015

Respiratory chain deficiency in nonmitochondrial disease.

Neurol Genet 2015 Jun 27;1(1):e6. Epub 2015 Apr 27.

Wellcome Trust Centre for Mitochondrial Research (A.P., H.J.N., H.G., K.D., M.S.-K., P.F.C., R.H.), Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, United Kingdom; Medical Genetics Center (A.A., L.F., B.C., S.K., E.H.-F.), Munich, Germany; Division of Neuropediatrics and Muscle Disorders (J.K.), University Medical Center, Freiburg, Germany; Department of Paediatrics (I.B., M.C.), University Hospital Center Zagreb & University of Zagreb, School of Medicine, Zagreb, Croatia; Department of Paediatrics (M.K.), Hospital Baden-Baden, Germany; and Department of Molecular Genetics and Diagnostics (V.K.), NIEH, Budapest, Hungary.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1212/NXG.0000000000000006DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4821083PMC
June 2015

Two novel nebulin variants in an adult patient with congenital nemaline myopathy.

Neuromuscul Disord 2015 May 3;25(5):392-6. Epub 2015 Feb 3.

Neurologische Klinik, Heimer-Institut am Bergmannsheil, Ruhr-Universität Bochum, Bochum, Germany.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.nmd.2015.01.013DOI Listing
May 2015

Adult care for Duchenne muscular dystrophy in the UK.

J Neurol 2015 Mar 24;262(3):629-41. Epub 2014 Dec 24.

Institute of Genetic Medicine, International Centre for Life, Newcastle University, Central Parkway, Newcastle upon Tyne, NE1 3BZ, UK.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s00415-014-7585-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4363521PMC
March 2015

Decompressive craniectomy after severe traumatic brain injury in children: complications and outcome.

Neuropediatrics 2015 Feb 24;46(1):5-12. Epub 2014 Oct 24.

Division of Neuropediatrics and Muscle Disorders, University Medical Center Freiburg, Freiburg, Germany.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1055/s-0034-1393707DOI Listing
February 2015

A homozygous splice-site mutation in CARS2 is associated with progressive myoclonic epilepsy.

Neurology 2014 Dec 31;83(23):2183-7. Epub 2014 Oct 31.

From the Department of Epileptology and Life & Brain Center (K.H., G.Z., S.M.-H., C.E.E., W.S.K.), University of Bonn; Department of Neuropediatrics and Muscle Disorders (J.K., R.K.), University of Freiburg; Cologne Center for Genomics (A.-K.R., H.T., P.N., T.S.), Center for Molecular Medicine Cologne (P.N.), and Cologne Excellence Cluster on Cellular Stress Responses in Aging-Associated Diseases (P.N.), University of Cologne, Germany; Genetic Department (O.O.), Institute of Experimental Medicine (DETAE), Istanbul University, Turkey; Department of Neurology and Epileptology (Y.W., F.B., H.L.), Hertie Institute for Clinical Brain Research, University of Tübingen, Germany.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1212/WNL.0000000000001055DOI Listing
December 2014

High creatine kinase levels and white matter changes: clinical and genetic spectrum of congenital muscular dystrophies with laminin alpha-2 deficiency.

Mol Cell Probes 2014 Aug 10;28(4):118-22. Epub 2013 Nov 10.

Division of Neuropediatrics and Muscle Disorders, University Medical Centre, Freiburg, Germany. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.mcp.2013.11.002DOI Listing
August 2014

Congenital muscular dystrophies.

Handb Clin Neurol 2013 ;113:1377-85

Division of Neuropediatrics and Muscle Disorders, Center for Pediatrics and Adolescent Medicine, University Medical Center Freiburg, Germany. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/B978-0-444-59565-2.00008-3DOI Listing
March 2014

Whole-body vibration training in children with Duchenne muscular dystrophy and spinal muscular atrophy.

Eur J Paediatr Neurol 2014 Mar 11;18(2):140-9. Epub 2013 Oct 11.

Department of Paediatrics and Adolescent Medicine, University Medical Centre Freiburg, Mathildenstraße 1, 79106 Freiburg, Germany.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ejpn.2013.09.005DOI Listing
March 2014

The TREAT-NMD care and trial site registry: an online registry to facilitate clinical research for neuromuscular diseases.

Orphanet J Rare Dis 2013 Oct 23;8:171. Epub 2013 Oct 23.

Department of Neuropaediatrics and Muscle Disorders, University Medical Center Freiburg, Mathildenstrasse 1, 79106, Freiburg, Germany.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1186/1750-1172-8-171DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3819466PMC
October 2013

Drug treatment of Duchenne muscular dystrophy: available evidence and perspectives.

Acta Myol 2012 May;31(1):4-8

Division of Neuropaediatrics and Muscle Disorders, University Medical Centre Freiburg, Germany.

View Article

Download full-text PDF

Source
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3440798PMC
May 2012

Adult-onset cerebellar ataxia due to mutations in CABC1/ADCK3.

J Neurol Neurosurg Psychiatry 2012 Feb 29;83(2):174-8. Epub 2011 Oct 29.

Institute of Genetic Medicine, Newcastle University, Central Parkway, Newcastle upon Tyne NE1 3BZ, UK.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1136/jnnp-2011-301258DOI Listing
February 2012

Sarcoglycanopathies.

Handb Clin Neurol 2011 ;101:41-6

Division of Neuropediatrics and Muscle Disorders, University Medical Center Freiburg, Freiburg, Germany.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/B978-0-08-045031-5.00003-7DOI Listing
July 2011

Respiratory chain deficiency precedes the disrupted calcium homeostasis in chronic doxorubicin cardiomyopathy.

Cardiovasc Pathol 2010 Sep-Oct;19(5):e167-74. Epub 2009 Sep 10.

Department of Rheumatology and Clinical Immunology, Medizinische Universitätsklinik, Freiburg, Germany.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.carpath.2009.06.006DOI Listing
January 2011

Elevated satellite cell number in Duchenne muscular dystrophy.

Cell Tissue Res 2010 Jun 15;340(3):541-8. Epub 2010 May 15.

Division of Neuropediatrics and Muscle Disorders, University Children's Hospital Freiburg, Freiburg, Germany.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s00441-010-0976-6DOI Listing
June 2010

Late-onset autosomal dominant limb girdle muscular dystrophy and Paget's disease of bone unlinked to the VCP gene locus.

J Neurol Sci 2010 Apr 8;291(1-2):79-85. Epub 2010 Feb 8.

Division of Neuropediatrics and Muscle Disorders, University Children's Hospital Freiburg, Freiburg, Germany.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.jns.2009.12.008DOI Listing
April 2010

Muscle hypertrophy of the lower leg caused by L5 radiculopathy.

Joint Bone Spine 2009 Oct 11;76(5):562-4. Epub 2009 Jun 11.

Seidel-Klinik, Clinic for Rheumatology, Spinal Disorders and Neuromuscular Diseases, Bad Bellingen, Germany.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.jbspin.2009.01.009DOI Listing
October 2009

Severe nemaline myopathy associated with consecutive mutations E74D and H75Y on a single ACTA1 allele.

Neuromuscul Disord 2009 Jul 23;19(7):481-4. Epub 2009 Jun 23.

Friedrich-Baur-Institute and Department of Neurology, Ludwig-Maximilians-University, Marchioninistrasse 17, Munich, Germany.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.nmd.2009.05.001DOI Listing
July 2009

Mitochondrial tubulopathy in tenofovir disoproxil fumarate-treated rats.

J Acquir Immune Defic Syndr 2009 Jul;51(3):258-63

Department of Rheumatology, University Hospital, Freiburg, Germany.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1097/qai.0b013e3181a666ebDOI Listing
July 2009

Predominant fiber atrophy and fiber type disproportion in early ullrich disease.

Muscle Nerve 2008 Sep;38(3):1184-91

Division of Neurology, The Children's Hospital of Philadelphia, Pennsylvania Muscle Institute, University of Pennsylvania School of Medicine, Abramson Research Center, 516F, 34th Street and Civic Center Boulevard, Philadelphia, Pennsylvania 19104, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/mus.21088DOI Listing
September 2008

Uridine supplementation antagonizes zalcitabine-induced microvesicular steatohepatitis in mice.

Hepatology 2007 Jan;45(1):72-9

Department of Rheumatology and Clinical Immunology, Medizinische Universitätsklinik, Freiburg, Germany.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/hep.21490DOI Listing
January 2007

Infections and vaccinations preceding childhood Guillain-Barré syndrome: a prospective study.

Eur J Pediatr 2006 Sep 12;165(9):605-12. Epub 2006 May 12.

Department of Paediatrics and Adolescent Medicine, Division of Neuropaediatrics and Muscular Disorders, University Hospital Freiburg, Mathildenstr. 1, 79106 Freiburg, Germany.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s00431-006-0140-1DOI Listing
September 2006

Intravenously administered immunoglobulin in the treatment of childhood Guillain-Barré syndrome: a randomized trial.

Pediatrics 2005 Jul;116(1):8-14

Division of Neuropediatrics and Muscular Disorders, Department of Pediatrics and Adolescent Medicine, University Hospital Freiburg, Mathildenstrasse 1, D-79106 Freiburg, Germany.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1542/peds.2004-1324DOI Listing
July 2005

p.S143F mutation in lamin A/C: a new phenotype combining myopathy and progeria.

Ann Neurol 2005 Jan;57(1):148-51

Division of Neuropediatrics and Muscle Disorders, University Children's Hospital Freiburg, Mathildenstrasse 1, 79106 Freiburg, Germany.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ana.20359DOI Listing
January 2005

Ullrich congenital muscular dystrophy: connective tissue abnormalities in the skin support overlap with Ehlers-Danlos syndromes.

Am J Med Genet A 2005 Jan;132A(3):296-301

Division of Neurology, The Children's Hospital of Philadelphia, and University of Pennsylvania Medical School, Philadelphia, Pennsylvania 19104, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.30443DOI Listing
January 2005

A case of childhood Pompe disease demonstrating phenotypic variability of p.Asp645Asn.

Neuromuscul Disord 2004 Jun;14(6):371-4

Department of Clinical Genetics, Erasmus MC, P.O. Box 1738, Rotterdam 3000 DR, The Netherlands.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.nmd.2004.02.012DOI Listing
June 2004

The congenital and limb-girdle muscular dystrophies: sharpening the focus, blurring the boundaries.

Arch Neurol 2004 Feb;61(2):189-99

Division of Neurology, The Children's Hospital of Philadelphia and University of Pennsylvania School of Medicine, 19104, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1001/archneur.61.2.189DOI Listing
February 2004