Martin Krahn

Martin Krahn

UNVERIFIED PROFILE

Are you Martin Krahn?   Register this Author

Register author
Martin Krahn

Martin Krahn

Publications by authors named "Martin Krahn"

Are you Martin Krahn?   Register this Author

50Publications

1227Reads

12Profile Views

Dysferlin Exon 32 Skipping in Patient Cells.

Methods Mol Biol 2018 ;1828:489-496

Aix Marseille Univ, INSERM, Marseille Medical Genetics (MMG), Marseille, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/978-1-4939-8651-4_31DOI Listing
April 2019

[Towards an harmonization of diagnosis by NGS of neuromuscular diseases - Actions of the Molecular Genetics sub-group of FILNEMUS].

Med Sci (Paris) 2018 Nov 12;34 Hors série n°2:20-22. Epub 2018 Nov 12.

CHRU Montpellier, Laboratoire de Génétique moléculaire, Montpellier, France - APHM, Département de Génétique Médicale, Hôpital Timone Enfants, Marseille, France.

View Article

Download full-text PDF

Source
https://www.medecinesciences.org/10.1051/medsci/201834s206
Publisher Site
http://dx.doi.org/10.1051/medsci/201834s206DOI Listing
November 2018

MoBiDiC Prioritization Algorithm, a Free, Accessible, and Efficient Pipeline for Single-Nucleotide Variant Annotation and Prioritization for Next-Generation Sequencing Routine Molecular Diagnosis.

J Mol Diagn 2018 07 22;20(4):465-473. Epub 2018 Apr 22.

Laboratoire de Génétique Moléculaire, CHU Montpellier, Montpellier, France; Laboratoire de Génétique des Maladies Rares EA7402, Université de Montpellier, Montpellier, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.jmoldx.2018.03.009DOI Listing
July 2018

Clinical heterogeneity and phenotype/genotype findings in 5 families with deficiency.

Neurol Genet 2017 Dec 18;3(6):e208. Epub 2017 Dec 18.

Assistance Publique-Hôpitaux de Paris (APHP) (R.B.Y., B.E., P.L.), Groupe Hospitalier Universitaire la Pitié-Salpêtrière, Centre de Référence de Pathologie Neuromusculaire Paris-Est, Institut de Myologie; Sorbonne Universités (R.B.Y., I.N., M.B., G.B.), UPMC Université Paris 06, INSERM UMRS 974, Center of Research in Myology, Institut de Myologie, Paris; Department of Molecular Genetics (A.H., F.P., F.M.P.), Assistance Publique-Hôpitaux de Paris (APHP), Hôpitaux Universitaires Paris Sud, Antoine Béclère Hospital, Clamart; Department of Pediatrics (A.H., P.L.), Assistance Publique-Hôpitaux de Paris (APHP), Hôpitaux Universitaires Paris Sud, Antoine Béclère Hospital, Referal Center for Metabolic Liver Inherited Diseases, Clamart, and Université Paris-Sud, France; Department of Neurology (J.R.D., T.K., J.V.), Copenhagen Neuromuscular Center, Rigshospitalet, University of Copenhagen; Department of Neurology (D.G.), Odense University Hospital, Denmark; Hospices Civils de Lyon (N.S.), Groupement Hospitalier Est, Centre de Pathologie et Neuropathologie Est, Service de Neuropathologie, Université Claude-Bernard Lyon 1, CNRS UMR5239, LBMC, ENS; AP-HM, Département de Génétique Médicale (M.K., M.C., M.B.), Hôpital Timone Enfants; Aix Marseille Université (M.K., M.C., M.B.), Inserm, GMGF, UMR_S910; Hospices Civils de Lyon (P.P.), Hôpital la Croix-Rousse, Département de Neurologie, Université Claude Bernard Lyon 1; CHU Besançon (F.M.), Hôpital Jean Minjoz, Centre de Référence de Pathologie Neuromusculaire; Unité de morphologie neuromusculaire (E.M., N.R.), Groupe Hospitalier Universitaire La Pitié-Salpêtrière; Sorbonne Universités UPMC Université Paris 06; Assistance Publique-Hôpitaux de Paris (APHP) (R.Y.C.), Service d'imagerie Médicale, CIC-IT Handicap, Hôpital Raymond Poincaré, Garches, France; and Department of Clinical Genetics (M.D.), Rigshospitalet, University of Copenhagen, Denmark.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1212/NXG.0000000000000208DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5735306PMC
December 2017

Genetic Characterization of a French Cohort of GNE-mutation negative inclusion body myopathy patients with exome sequencing.

Muscle Nerve 2017 Nov 7;56(5):993-997. Epub 2017 Apr 7.

Aix Marseille University, GMGF, INSERM AMU UMR_S910, Faculté de Médecine de Marseille, 4e étage Aile Verte, 27 Boulevard Jean Moulin, 13385, Marseille Cedex 05, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/mus.25638DOI Listing
November 2017

[Towards a national standardisation of NGS studies in the diagnosis of myopathies].

Med Sci (Paris) 2017 Nov 15;33 Hors série n°1:30-33. Epub 2017 Nov 15.

CHRU Montpellier, Laboratoire de Génétique moléculaire, Montpellier, France - Université Montpellier, Laboratoire de Génétique de maladies rares, Montpellier, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1051/medsci/201733s106DOI Listing
November 2017

Calf hypertrophy and gastrocnemius MRI short tau inversion recovery (STIR) hyperintensity in a patient with asymptomatic hyperCKemia caused by caveolin-3 gene mutation.

Neuromuscul Disord 2016 Apr-May;26(4-5):326-7. Epub 2016 Feb 23.

APHM, Département de Génétique Médicale, Hôpital Timone Enfants, 13385, Marseille, France; Aix Marseille Université, INSERM UMR_S 910, GMGF, 13385, Marseille, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.nmd.2016.02.009DOI Listing
January 2017

Improving molecular diagnosis of distal myopathies by targeted next-generation sequencing.

J Neurol Neurosurg Psychiatry 2016 Mar 17;87(3):340-2. Epub 2015 Mar 17.

APHM, Department of Neurology, Neuromuscular and ALS Reference Center, La Timone University Hospital, Marseille, France Aix Marseille Université, INSERM, GMGF, Marseille, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1136/jnnp-2014-309663DOI Listing
March 2016

Respiratory and cardiac function in japanese patients with dysferlinopathy.

Muscle Nerve 2016 Mar 27;53(3):394-401. Epub 2016 Jan 27.

Department of Neurology, National Center Hospital, National Center of Neurology and Psychiatry, Tokyo, Japan.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/mus.24741DOI Listing
March 2016

Toward an objective measure of functional disability in dysferlinopathy.

Muscle Nerve 2016 Jan 23;53(1):49-57. Epub 2015 May 23.

Unidad Neuromuscular, Departamento de Neurología y Neurocirugía, Hospital Clínico Universidad de Chile, Santos Dumont 999, 2do. piso, Sector E. Independencia, 8380456, Santiago, Chile.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/mus.24685DOI Listing
January 2016

Dysferlinopathy in Iran: Clinical and genetic report.

J Neurol Sci 2015 Dec 11;359(1-2):256-9. Epub 2015 Nov 11.

Aix Marseille Université, INSERM, GMGF UMR_S 910, 13385 Marseille, France; Reference Center for Neuromuscular Disorders and ALS CHU La Timone Marseille, France.

View Article

Download full-text PDF

Source
https://linkinghub.elsevier.com/retrieve/pii/S0022510X153001
Publisher Site
http://dx.doi.org/10.1016/j.jns.2015.11.009DOI Listing
December 2015

Comment on: A novel dysferlin-mutant pseudoexon bypassed with antisense oligonucleotides.

Ann Clin Transl Neurol 2015 Jul;2(7):783-4

Aix Marseille Université, GMGF 13385, Marseille, France ; Inserm, UMR_S 910 13385, Marseille, France ; AP-HM, Département de Génétique Médicale et de Biologie Cellulaire, Hôpital d'Enfants de la Timone 13385, Marseille, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/acn3.216DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4531062PMC
July 2015

Distal myopathy with rimmed vacuoles and inflammation: a genetically proven case.

Neurol India 2012 Nov-Dec;60(6):631-4

Department of Neurology, Nizam's Institute of Medical Sciences, Hyderabad, India.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.4103/0028-3886.105199DOI Listing
March 2015

Clinical heterogeneity and a high proportion of novel mutations in a Chinese cohort of patients with dysferlinopathy.

Neurol India 2014 Nov-Dec;62(6):635-9

Aix Marseille University, GMGF, 13385; Inserm, UMR_S 910, 13385; Department of Medical Genetics and Cell Biology, APHM, Children's Hospital La Timone, 13385, Marseille, France.

View Article

Download full-text PDF

Source
http://search.proquest.com/openview/e70fd22cb0c480c42d20ceb3
Web Search
http://dx.doi.org/10.4103/0028-3886.149386DOI Listing
March 2015

Exome sequencing as a second-tier diagnostic approach for clinically suspected dysferlinopathy patients.

Muscle Nerve 2014 Dec 30;50(6):1007-10. Epub 2014 Oct 30.

Aix Marseille Université, INSERM, GMGF, UMR_S 910, 13385, Marseille, France; APHM, Département de Génétique Médicale, Hôpital Timone Enfants, Marseille, 13385, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/mus.24344DOI Listing
December 2014

Identification of splicing defects caused by mutations in the dysferlin gene.

Hum Mutat 2014 Dec;35(12):1532-41

Aix Marseille Université, GMGF, Marseille, 13385, France; Inserm, UMR_S 910, Marseille, 13385, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/humu.22710DOI Listing
December 2014

Entire CAPN3 gene deletion in a patient with limb-girdle muscular dystrophy type 2A.

Muscle Nerve 2014 Sep 5;50(3):448-53. Epub 2014 Aug 5.

Neurosciences Area, Biodonostia Institute, Hospital Universitario Donostia, 20014, San Sebastián, Spain.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/mus.24263DOI Listing
September 2014

Translational research and therapeutic perspectives in dysferlinopathies.

Mol Med 2011 Sep-Oct;17(9-10):875-82. Epub 2011 May 6.

University of the Mediterranean, Marseille Medical School, Marseille, France Inserm UMR_S 910 Medical Genetics and Functional Genomics Marseille, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.2119/molmed.2011.00084DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3188867PMC
March 2012

172nd ENMC International Workshop: dysferlinopathies 29-31 January 2010, Naarden, The Netherlands.

Neuromuscul Disord 2011 Jul 23;21(7):503-12. Epub 2011 May 23.

Département de Génétique Médicale, Hôpital d'Enfants de la Timone, AP-HM, and Inserm UMR_S 910, Université de la Méditerranée, Marseille, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.nmd.2011.04.006DOI Listing
July 2011

Novel ancestral Dysferlin splicing mutation which migrated from the Iberian peninsula to South America.

Neuromuscul Disord 2011 May 9;21(5):328-37. Epub 2011 Mar 9.

Clinical Unit, Department of Genetics, Faculty of Medicine, University of the Republic, Av. Gral. Flores 2125, Montevideo CP 11800, Uruguay.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.nmd.2011.02.003DOI Listing
May 2011

A naturally occurring human minidysferlin protein repairs sarcolemmal lesions in a mouse model of dysferlinopathy.

Sci Transl Med 2010 Sep;2(50):50ra69

Inserm UMR_S 910, Génétique Médicale et Génomique Fonctionnelle, Faculté de Médecine de Marseille, Université de la Méditerranée, 13005 Marseille, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1126/scitranslmed.3000951DOI Listing
September 2010

Efficient bypass of mutations in dysferlin deficient patient cells by antisense-induced exon skipping.

Hum Mutat 2010 Feb;31(2):136-42

Université de la Méditerranée, Inserm UMR_S 910 Génétique Médicale et Génomique Fonctionnelle, Faculté de Médecine de Marseille, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/humu.21160DOI Listing
February 2010

Dysferlinopathies.

Neurol India 2008 Jul-Sep;56(3):289-97

Assistance Publique Hopitaux de Paris, Hopital Marin, BP40139, 64700 Hendaye, France.

View Article

Download full-text PDF

Source
June 2009

Twenty-two year follow-up of an Indian family with dysferlinopathy-clinical, immunocytochemical, western blotting and genetic features.

Neurol India 2008 Jul-Sep;56(3):388-90

Department of Neurology, Grant Medical College and Sir J J Group of Hospitals, Byculla, Mumbai, India.

View Article

Download full-text PDF

Source
June 2009

Dysferlinopathy in Chile: evidence of two novel mutations in the first reported cases.

Genet Test Mol Biomarkers 2009 Feb;13(1):105-8

Departamento de Neurología y Neurocirugía, Hospital Clínico Universidad de Chile, Santiago, Chile.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1089/gtmb.2008.0091DOI Listing
February 2009