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  1. The use of the Internet for searching and sharing health information and for health care interactions may have a great potential for families of children affected with rare diseases. We conducted an online sur...

    Authors: Alberto E Tozzi, Rita Mingarelli, Eleonora Agricola, Michaela Gonfiantini, Elisabetta Pandolfi, Emanuela Carloni, Francesco Gesualdo and Bruno Dallapiccola
    Citation: Orphanet Journal of Rare Diseases 2013 8:76
  2. The Dandy-Walker malformation (DWM) is one of the commonest congenital cerebellar defects, and can be associated with multiple congenital anomalies and chromosomal syndromes. The occurrence of overlapping 3q d...

    Authors: Alessandro Ferraris, Laura Bernardini, Vesna Sabolic Avramovska, Ginevra Zanni, Sara Loddo, Elena Sukarova-Angelovska, Valentina Parisi, Anna Capalbo, Stefano Tumini, Lorena Travaglini, Francesca Mancini, Filip Duma, Sabina Barresi, Antonio Novelli, Eugenio Mercuri, Luigi Tarani…
    Citation: Orphanet Journal of Rare Diseases 2013 8:75
  3. Infantile cholestatic diseases can be caused by mutations in a number of genes involved in different hepatocyte molecular pathways. Whilst some of the essential pathways have a well understood function, such a...

    Authors: Neil V Morgan, Jane L Hartley, Kenneth DR Setchell, Michael A Simpson, Rachel Brown, Louise Tee, Sian Kirkham, Shanaz Pasha, Richard C Trembath, Eamonn R Maher, Paul Gissen and Deirdre A Kelly
    Citation: Orphanet Journal of Rare Diseases 2013 8:74
  4. Langerhans Cell Histiocytosis (LCH) is an orphan disease of clonal dendritic cells which may affect any organ of the body. Most of the knowledge about the diagnosis and therapy is based on pedriatic studies. A...

    Authors: Michael Girschikofsky, Maurizio Arico, Diego Castillo, Anthony Chu, Claus Doberauer, Joachim Fichter, Julien Haroche, Gregory A Kaltsas, Polyzois Makras, Angelo V Marzano, Mathilde de Menthon, Oliver Micke, Emanuela Passoni, Heinrich M Seegenschmiedt, Abdellatif Tazi and Kenneth L McClain
    Citation: Orphanet Journal of Rare Diseases 2013 8:72
  5. Patients with mucopolysaccharidoses (MPS) are associated with poor bone growth and mineralization, however, information regarding the assessment of bone mineral density (BMD) in relation to age and treatment i...

    Authors: Hsiang-Yu Lin, Shou-Chuan Shih, Chih-Kuang Chuang, Ming-Ren Chen, Dau-Ming Niu and Shuan-Pei Lin
    Citation: Orphanet Journal of Rare Diseases 2013 8:71
  6. This study describes the natural history of Barth syndrome (BTHS).

    Authors: Charlotte Rigaud, Anne-Sophie Lebre, Renaud Touraine, Blandine Beaupain, Chris Ottolenghi, Allel Chabli, Helene Ansquer, Hulya Ozsahin, Sylvie Di Filippo, Pascale De Lonlay, Betina Borm, Francois Rivier, Marie-Catherine Vaillant, Michèle Mathieu-Dramard, Alice Goldenberg, Géraldine Viot…
    Citation: Orphanet Journal of Rare Diseases 2013 8:70
  7. Blistering in epidermolysis bullosa simplex type Dowling-Meara (EBS-DM) is associated with an inflammatory phenotype, which can be disrupted by diacerein in vitro. In this pilot study we hypothesized, that a topi...

    Authors: Verena Wally, Sophie Kitzmueller, Florian Lagler, Angelika Moder, Wolfgang Hitzl, Martin Wolkersdorfer, Peter Hofbauer, Thomas K Felder, Michael Dornauer, Anja Diem, Nora Eiler and Johann W Bauer
    Citation: Orphanet Journal of Rare Diseases 2013 8:69
  8. Brittle cornea syndrome (BCS) is an autosomal recessive disorder characterised by extreme corneal thinning and fragility. Corneal rupture can therefore occur either spontaneously or following minimal trauma in...

    Authors: Emma MM Burkitt Wright, Louise F Porter, Helen L Spencer, Jill Clayton-Smith, Leon Au, Francis L Munier, Sarah Smithson, Mohnish Suri, Marianne Rohrbach, Forbes DC Manson and Graeme CM Black
    Citation: Orphanet Journal of Rare Diseases 2013 8:68
  9. Lupus enteritis is a rare and poorly understood cause of abdominal pain in patients with systemic lupus erythematosus (SLE). In this study, we report a series of 7 new patients with this rare condition who wer...

    Authors: Peter Janssens, Laurent Arnaud, Lionel Galicier, Alexis Mathian, Miguel Hie, Damien Sene, Julien Haroche, Catherine Veyssier-Belot, Isabelle Huynh-Charlier, Philippe A Grenier, Jean-Charles Piette and Zahir Amoura
    Citation: Orphanet Journal of Rare Diseases 2013 8:67
  10. We studied a family including two half-siblings, sharing the same mother, affected by slowly progressive, adult-onset neurological syndromes. In spite of the diversity of the clinical features, characterized b...

    Authors: Laura Melchionda, Mingyan Fang, Hairong Wang, Valeria Fugnanesi, Michela Morbin, Xuanzhu Liu, Wenyan Li, Isabella Ceccherini, Laura Farina, Mario Savoiardo, Pio D’Adamo, Jianguo Zhang, Alfredo Costa, Sabrina Ravaglia, Daniele Ghezzi and Massimo Zeviani
    Citation: Orphanet Journal of Rare Diseases 2013 8:66
  11. The association between sarcoidosis and glomerular diseases has not been extensively investigated in a large series and the potential features of this uncommon association remain to be determined.

    Authors: Thomas Stehlé, Dominique Joly, Philippe Vanhille, Jean-Jacques Boffa, Philippe Rémy, Laurent Mesnard, Maxime Hoffmann, Philippe Grimbert, Gabriel Choukroun, François Vrtovsnik, Jérôme Verine, Dominique Desvaux, Francine Walker, Philippe Lang, Matthieu Mahevas, Dil Sahali…
    Citation: Orphanet Journal of Rare Diseases 2013 8:65
  12. Wolfram Syndrome (WFS:OMIM 222300) is an autosomal recessive, progressive, neurologic and endocrinologic degenerative disorder caused by mutations in the WFS1 gene, encoding the endoplasmic reticulum (ER) prot...

    Authors: Bess A Marshall, M Alan Permutt, Alexander R Paciorkowski, James Hoekel, Roanne Karzon, Jon Wasson, Amy Viehover, Neil H White, Joshua S Shimony, Linda Manwaring, Paul Austin, Timothy E Hullar and Tamara Hershey
    Citation: Orphanet Journal of Rare Diseases 2013 8:64
  13. Floating-Harbor syndrome (FHS) is a rare condition characterized by short stature, delays in expressive language, and a distinctive facial appearance. Recently, heterozygous truncating mutations in SRCAP were det...

    Authors: Sarah M Nikkel, Andrew Dauber, Sonja de Munnik, Meghan Connolly, Rebecca L Hood, Oana Caluseriu, Jane Hurst, Usha Kini, Malgorzata J M Nowaczyk, Alexandra Afenjar, Beate Albrecht, Judith E Allanson, Paolo Balestri, Tawfeg Ben-Omran, Francesco Brancati, Isabel Cordeiro…
    Citation: Orphanet Journal of Rare Diseases 2013 8:63
  14. We recently described a novel autosomal recessive neurodevelopmental disorder with intellectual disability in four patients from two related Hutterite families. Identity-by-descent mapping localized the gene t...

    Authors: Chandree L Beaulieu, Lijia Huang, A Micheil Innes, Marie-Andree Akimenko, Erik G Puffenberger, Charles Schwartz, Paul Jerry, Carole Ober, Robert A Hegele, D Ross McLeod, Jeremy Schwartzentruber, Jacek Majewski, Dennis E Bulman, Jillian S Parboosingh and Kym M Boycott
    Citation: Orphanet Journal of Rare Diseases 2013 8:62
  15. Dystrophic Epidermolysis Bullosa (DEB) is a rare genodermatosis (7 cases per million) that causes blisters and erosions with minor trauma in skin and mucosa, and other systemic complications. A recently update...

    Authors: Paula Davila-Seijo, Angela Hernández-Martín, Evanina Morcillo-Makow, Raúlde Lucas, Esther Domínguez, Natividad Romero, Eva Monrós, Marta Feito, Luis Carretero, Bea Aranegui and Ignacio García-Doval
    Citation: Orphanet Journal of Rare Diseases 2013 8:61
  16. Currently, clinical trials for new therapeutic strategies are being planned for Duchenne and Becker muscular dystrophies (DMD/BMD). However, it is difficult to obtain adequate numbers of patients in clinical t...

    Authors: Harumasa Nakamura, En Kimura, Madoka Mori-Yoshimura, Hirofumi Komaki, Yu Matsuda, Kanako Goto, Yukiko K Hayashi, Ichizo Nishino, Shin‘ichi Takeda and Mitsuru Kawai
    Citation: Orphanet Journal of Rare Diseases 2013 8:60
  17. Primary autosomal recessive microcephaly (MCPH) is a rare neurodevelopmental disorder that results in severe microcephaly at birth with pronounced reduction in brain volume, particularly of the neocortex, simp...

    Authors: Lina Issa, Katrin Mueller, Katja Seufert, Nadine Kraemer, Henning Rosenkotter, Olaf Ninnemann, Michael Buob, Angela M Kaindl and Deborah J Morris-Rosendahl
    Citation: Orphanet Journal of Rare Diseases 2013 8:59
  18. Classic Ehlers–Danlos syndrome (cEDS) is a rare autosomal dominant connective tissue disorder that is primarily characterized by skin hyperextensibility, abnormal wound healing/atrophic scars, and joint hyperm...

    Authors: Marco Ritelli, Chiara Dordoni, Marina Venturini, Nicola Chiarelli, Stefano Quinzani, Michele Traversa, Nicoletta Zoppi, Annalisa Vascellaro, Anita Wischmeijer, Emanuela Manfredini, Livia Garavelli, Piergiacomo Calzavara-Pinton and Marina Colombi
    Citation: Orphanet Journal of Rare Diseases 2013 8:58
  19. Hyperlysinemia is an autosomal recessive inborn error of L-lysine degradation. To date only one causal mutation in the AASS gene encoding α-aminoadipic semialdehyde synthase has been reported. We aimed to better ...

    Authors: Sander M Houten, Heleen te Brinke, Simone Denis, Jos PN Ruiter, Alida C Knegt, Johannis BC de Klerk, Persephone Augoustides-Savvopoulou, Johannes Häberle, Matthias R Baumgartner, Turgay Coşkun, Johannes Zschocke, Jörn Oliver Sass, Bwee Tien Poll-The, Ronald JA Wanders and Marinus Duran
    Citation: Orphanet Journal of Rare Diseases 2013 8:57
  20. Oral sub mucous fibrosis is a rare chronic, progressive, pre malignant collagen disorder of oral mucosa in people of Asian descent characterized by trismus, blanching and stiffness of mucosa, burning sensation...

    Authors: Muhammad Faisal, Madiha Rana, Anjum Shaheen, Riaz Warraich, Horst Kokemueller, André Michael Eckardt, Nils-Claudius Gellrich and Majeed Rana
    Citation: Orphanet Journal of Rare Diseases 2013 8:56

    The Erratum to this article has been published in Orphanet Journal of Rare Diseases 2013 8:86

  21. Patients with multiple colorectal adenomas are currently screened for germline mutations in two genes, APC and MUTYH. APC-mutated patients present classic or attenuated familial adenomatous polyposis (FAP/AFAP), ...

    Authors: Giovana Tardin Torrezan, Felipe Cavalcanti Carneiro da Silva, Érika Maria Monteiro Santos, Ana Cristina Victorino Krepischi, Maria Isabel Waddington Achatz, Samuel Aguiar Junior, Benedito Mauro Rossi and Dirce Maria Carraro
    Citation: Orphanet Journal of Rare Diseases 2013 8:54
  22. Pulmonary alveolar proteinosis (PAP) is a rare disorder characterised by abundant alveolar accumulation of surfactant lipoproteins. Serum levels of KL-6, high molecular weight human MUC1 mucin, are increased i...

    Authors: Francesco Bonella, Shinichiro Ohshimo, Cai Miaotian, Matthias Griese, Josune Guzman and Ulrich Costabel
    Citation: Orphanet Journal of Rare Diseases 2013 8:53
  23. Malignant atrophic papulosis (Köhlmeier-Degos disease; MAP) is an uncommon endotheliopathy with pathological findings similar to the vascular lesions of systemic sclerosis. These two disorders can overlap. Whe...

    Authors: Lee S Shapiro, Aixa E Toledo-Garcia and Jessica F Farrell
    Citation: Orphanet Journal of Rare Diseases 2013 8:52
  24. Mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome; MPS VI) is an autosomal recessive lysosomal storage disorder in which deficiency of N-acetylgalactosamine 4-sulfatase (arylsulfatase B; ARSB) leads to th...

    Authors: Marion M Brands, Marianne Hoogeveen-Westerveld, Marian A Kroos, Willemieke Nobel, George J Ruijter, Lale Özkan, Iris Plug, Daniel Grinberg, Lluïsa Vilageliu, Dicky J Halley, Ans T van der Ploeg and Arnold J Reuser
    Citation: Orphanet Journal of Rare Diseases 2013 8:51
  25. Primary hyperparathyroidism (PHPT) is most commonly sporadic (sPHPT). However, sometimes PHPT develops as part of multiple endocrine neoplasia (MEN) type 1 or 2A. In all, parathyroidectomy is the only curative...

    Authors: Bas A Twigt, Anouk Scholten, Gerlof D Valk, Inne HM Borel Rinkes and Menno R Vriens
    Citation: Orphanet Journal of Rare Diseases 2013 8:50
  26. The editors of Orphanet Journal of Rare Diseases would like to thank all our reviewers who have contributed to the journal in volume 7 (2012).

    Authors: Ségolène Aymé
    Citation: Orphanet Journal of Rare Diseases 2013 8:39
  27. Pompe disease is a rare metabolic myopathy for which disease-specific enzyme replacement therapy (ERT) has been available since 2006. ERT has shown efficacy concerning muscle strength and pulmonary function in...

    Authors: Deniz Güngör, Michelle E Kruijshaar, Iris Plug, Ralph B D’Agostino, Marloes LC Hagemans, Pieter A van Doorn, Arnold JJ Reuser and Ans T van der Ploeg
    Citation: Orphanet Journal of Rare Diseases 2013 8:49
  28. Small clinical trials are necessary when there are difficulties in recruiting enough patients for conventional frequentist statistical analyses to provide an appropriate answer. These trials are often necessar...

    Authors: Catherine Cornu, Behrouz Kassai, Roland Fisch, Catherine Chiron, Corinne Alberti, Renzo Guerrini, Anna Rosati, Gerard Pons, Harm Tiddens, Sylvie Chabaud, Daan Caudri, Clément Ballot, Polina Kurbatova, Anne-Charlotte Castellan, Agathe Bajard and Patrice Nony
    Citation: Orphanet Journal of Rare Diseases 2013 8:48
  29. Fabry disease is an X-linked lysosomal storage disorder caused by α-galactosidase A deficiency leading to renal, cardiac, cerebrovascular disease and premature death. Treatment with α-galactosidase A (enzyme r...

    Authors: Saskia M Rombach, Bouwien E Smid, Machtelt G Bouwman, Gabor E Linthorst, Marcel G W Dijkgraaf and Carla E M Hollak
    Citation: Orphanet Journal of Rare Diseases 2013 8:47
  30. Mutations in LYST, a gene encoding a putative lysosomal trafficking protein, cause Chédiak-Higashi syndrome (CHS), an autosomal recessive disorder typically characterized by infantile-onset hemophagocytic syndrom...

    Authors: James D Weisfeld-Adams, Lakshmi Mehta, Janet C Rucker, Francine R Dembitzer, Arnold Szporn, Fred D Lublin, Wendy J Introne, Vikas Bhambhani, Michael C Chicka and Catherine Cho
    Citation: Orphanet Journal of Rare Diseases 2013 8:46
  31. Moyamoya Disease is a rare, devastating cerebrovascular disorder characterized by stenosis/occlusion of supraclinoid internal carotid arteries and development of fragile collateral vessels. Moyamoya Disease is...

    Authors: Tara K Sigdel, Lorelei D Shoemaker, Rong Chen, Li Li, Atul J Butte, Minnie M Sarwal and Gary K Steinberg
    Citation: Orphanet Journal of Rare Diseases 2013 8:45
  32. Spinal muscular atrophy (SMA) is the most common lethal recessive disease in childhood, and there is currently no effective treatment to halt disease progression. The translation of scientific advances into ef...

    Authors: Nathalie Kayadjanian, Arthur Burghes, Richard S Finkel, Eugenio Mercuri, Francoise Rouault, Inge Schwersenz and Kevin Talbot
    Citation: Orphanet Journal of Rare Diseases 2013 8:44
  33. Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency is the most common inherited disorder of the mitochondrial fatty acid oxidation, caused by mutations in the ACADM gene. Since the introduction of neonatal scr...

    Authors: Catharina ML Touw, G Peter A Smit, Klary E Niezen-Koning, Conny Bosgraaf-de Boer, Albert Gerding, Dirk-Jan Reijngoud and Terry GJ Derks
    Citation: Orphanet Journal of Rare Diseases 2013 8:43
  34. Mucopolysaccharidosis II (MPS II, Hunter syndrome) is a rare X-linked lysosomal storage disorder caused by the deficiency of iduronate-2-sulfatase (IDS). In affected patients, glycosaminoglycan (GAG) accumulat...

    Authors: Young Bae Sohn, Sung Yoon Cho, Sung Won Park, Su Jin Kim, Ah-Ra Ko, Eun-Kyung Kwon, Sun Ju Han and Dong-Kyu Jin
    Citation: Orphanet Journal of Rare Diseases 2013 8:42
  35. Mutations in SACS, leading to autosomal-recessive spastic ataxia of Charlevoix-Saguenay (ARSACS), have been identified as a frequent cause of recessive early-onset ataxia around the world. Here we aimed to enlarg...

    Authors: Matthis Synofzik, Anne S Soehn, Janina Gburek-Augustat, Julia Schicks, Kathrin N Karle, Rebecca Schüle, Tobias B Haack, Martin Schöning, Saskia Biskup, Sabine Rudnik-Schöneborn, Jan Senderek, Karl-Titus Hoffmann, Patrick MacLeod, Johannes Schwarz, Benjamin Bender, Stefan Krüger…
    Citation: Orphanet Journal of Rare Diseases 2013 8:41
  36. Pulmonary alveolar proteinosis (PAP) is a term defining an ultra-rare group of disorders characterised by a perturbation in surfactant homeostasis, resulting in its accumulation within airspaces and impaired g...

    Authors: Ilaria Campo, Francesca Mariani, Giuseppe Rodi, Elena Paracchini, Eric Tsana, Davide Piloni, Isabella Nobili, Zamir Kadija, Angelo Corsico, Isa Cerveri, Claudia Chalk, Bruce C Trapnell, Antonio Braschi, Carmine Tinelli and Maurizio Luisetti
    Citation: Orphanet Journal of Rare Diseases 2013 8:40
  37. Friedreich’s Ataxia (FRDA) is a neurodegenerative disorder that causes progressive damage to the central and peripheral nervous systems having a significant impact upon quality of life. With little information...

    Authors: Paola Giunti, Julia Greenfield, Alison J Stevenson, Michael H Parkinson, Jodie L Hartmann, Ruediger Sandtmann, James Piercy, Jamie O’Hara, Leo Ruiz Casas and Fiona M Smith
    Citation: Orphanet Journal of Rare Diseases 2013 8:38
  38. Inborn errors of metabolism (IEMs) are known for their low prevalence and multidisciplinary care mostly founded on expert opinion. Clinical pathways are multidisciplinary tools to organise care which provide a...

    Authors: Serwet Demirdas, Imke N van Kessel, Marjolein J Korndewal, Carla EM Hollak, Hanka Meutgeert, Anja Klaren, Margreet van Rijn, Francjan J van Spronsen and Annet M Bosch
    Citation: Orphanet Journal of Rare Diseases 2013 8:37
  39. Elastin gene mutations have been associated with a variety of phenotypes. Autosomal dominant cutis laxa (ADCL) is a rare disorder that presents with lax skin, typical facial characteristics, inguinal hernias, ...

    Authors: Smail Hadj-Rabia, Bert L Callewaert, Emmanuelle Bourrat, Marlies Kempers, Astrid S Plomp, Valerie Layet, Deborah Bartholdi, Marjolijn Renard, Julie De Backer, Fransiska Malfait, Olivier M Vanakker, Paul J Coucke, Anne M De Paepe and Christine Bodemer
    Citation: Orphanet Journal of Rare Diseases 2013 8:36
  40. The neurodegenerative lysosomal storage disorder Niemann-Pick disease type C (NP-C) is characterized by a broad clinical variability involving neurological, psychiatric and systemic signs. Diverse patterns of ...

    Authors: Miriam Stampfer, Susanne Theiss, Yasmina Amraoui, Xuntian Jiang, Sigrid Keller, Daniel S Ory, Eugen Mengel, Christine Fischer and Heiko Runz
    Citation: Orphanet Journal of Rare Diseases 2013 8:35
  41. Niemann Pick C (NPC) disease is a neurovisceral lysosomal storage disorder due to mutations in NPC1 or NPC2 genes, characterized by the accumulation of endocytosed unesterified cholesterol, gangliosides and other...

    Authors: Natascha Bergamin, Andrea Dardis, Antonio Beltrami, Daniela Cesselli, Silvia Rigo, Stefania Zampieri, Rossana Domenis, Bruno Bembi and Carlo Alberto Beltrami
    Citation: Orphanet Journal of Rare Diseases 2013 8:34
  42. The biology of small cell ovarian carcinoma of the hypercalcemic type (SCCOHT), which is a rare and aggressive form of ovarian cancer, is poorly understood. Tumourigenicity, in vitro growth characteristics, genet...

    Authors: Lisa F Gamwell, Karen Gambaro, Maria Merziotis, Colleen Crane, Suzanna L Arcand, Valerie Bourada, Christopher Davis, Jeremy A Squire, David G Huntsman, Patricia N Tonin and Barbara C Vanderhyden
    Citation: Orphanet Journal of Rare Diseases 2013 8:33
  43. Chronic lymphocytic leukemia (CLL) is a slowly progressing but fatal disease that imposes a high economic burden on sickness funds and society. The objective of this study was to analyze and compare the direct...

    Authors: Carl Rudolf Blankart, Taika Koch, Roland Linder, Frank Verheyen, Jonas Schreyögg and Tom Stargardt
    Citation: Orphanet Journal of Rare Diseases 2013 8:32
  44. Transthyretin amyloidosis is a progressive and eventually fatal disease primarily characterized by sensory, motor, and autonomic neuropathy and/or cardiomyopathy. Given its phenotypic unpredictability and vari...

    Authors: Yukio Ando, Teresa Coelho, John L Berk, Márcia Waddington Cruz, Bo-Göran Ericzon, Shu-ichi Ikeda, W David Lewis, Laura Obici, Violaine Planté-Bordeneuve, Claudio Rapezzi, Gerard Said and Fabrizio Salvi
    Citation: Orphanet Journal of Rare Diseases 2013 8:31
  45. Hereditary Hyperferritinaemia Cataract Syndrome (HHCS) is a rare autosomal dominant disease characterized by increased serum ferritin levels and early onset of bilateral cataract. The disease is caused by muta...

    Authors: Sara Luscieti, Gabriele Tolle, Jessica Aranda, Carmen Benet Campos, Frank Risse, Érica Morán, Martina U Muckenthaler and Mayka Sánchez
    Citation: Orphanet Journal of Rare Diseases 2013 8:30
  46. The concept of individual burden, associated with disease, has been introduced recently to determine the “disability” caused by the pathology in the broadest sense of the word (psychological, social, economic,...

    Authors: Hélène Dufresne, Smail Hadj-Rabia, Cécile Méni, Vincent Sibaud, Christine Bodemer and Charles Taïeb
    Citation: Orphanet Journal of Rare Diseases 2013 8:28
  47. Dysferlinopathies are autosomal recessive disorders caused by mutations in the dysferlin (DYSF) gene encoding the dysferlin protein. DYSF mutations lead to a wide range of muscular phenotypes, with the most promi...

    Authors: Maggie C Walter, Peter Reilich, Simone Thiele, Joachim Schessl, Herbert Schreiber, Karlheinz Reiners, Wolfram Kress, Clemens Müller-Reible, Matthias Vorgerd, Peter Urban, Bertold Schrank, Marcus Deschauer, Beate Schlotter-Weigel, Ralf Kohnen and Hanns Lochmüller
    Citation: Orphanet Journal of Rare Diseases 2013 8:26