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  1. 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

    Content type: Research

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  2. 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

    Content type: Research

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  3. 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

    Content type: Research

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  4. 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

    Content type: Research

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  5. 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

    Content type: Research

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  6. 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

    Content type: Research

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  7. 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

    Content type: Research

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  8. 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

    Content type: Research

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  9. 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

    Content type: Research

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  10. 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

    Content type: Research

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  11. 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

    Content type: Research

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

  12. 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

    Content type: Research

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  13. 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

    Content type: Research

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  14. 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

    Content type: Research

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  15. 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

    Content type: Research

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  16. 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

    Content type: Research

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  17. 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

    Content type: Reviewer Acknowledgement

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  18. 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

    Content type: Research

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  19. 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

    Content type: Review

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  20. 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

    Content type: Research

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  21. 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

    Content type: Research

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  22. 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

    Content type: Research

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  23. 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

    Content type: Letter to the Editor

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  24. 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

    Content type: Research

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  25. 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

    Content type: Research

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  26. 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

    Content type: Research

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  27. 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

    Content type: Research

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  28. 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

    Content type: Research

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  29. 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

    Content type: Letter to the Editor

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  30. 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

    Content type: Research

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  31. 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

    Content type: Research

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  32. 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

    Content type: Research

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  33. 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

    Content type: Research

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  34. 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

    Content type: Research

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  35. 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

    Content type: Review

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  36. 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

    Content type: Research

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  37. 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

    Content type: Research

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  38. Barth syndrome (BS) is an X-linked infantile-onset cardioskeletal disease characterized by cardiomyopathy, hypotonia, growth delay, neutropenia and 3-methylglutaconic aciduria. It is caused by mutations in the TA...

    Authors: Lorenzo Ferri, Maria Alice Donati, Silvia Funghini, Sabrina Malvagia, Serena Catarzi, Licia Lugli, Luca Ragni, Enrico Bertini, Frédéréc M Vaz, David N Cooper, Renzo Guerrini and Amelia Morrone

    Citation: Orphanet Journal of Rare Diseases 2013 8:27

    Content type: Research

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  39. 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

    Content type: Research

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  40. Alström Syndrome (AS) is a rare ciliopathy characterized by cone–rod retinal dystrophy, sensorineural hearing loss, obesity, type 2 diabetes mellitus and cardiomyopathy. Most patients do not present with neuro...

    Authors: Valentina Citton, Angela Favaro, Vera Bettini, Joseph Gabrieli, Gabriella Milan, Nella Augusta Greggio, Jan D Marshall, Jürgen K Naggert, Renzo Manara and Pietro Maffei

    Citation: Orphanet Journal of Rare Diseases 2013 8:24

    Content type: Research

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  41. First described in 1983, Barth syndrome (BTHS) is widely regarded as a rare X-linked genetic disease characterised by cardiomyopathy (CM), skeletal myopathy, growth delay, neutropenia and increased urinary exc...

    Authors: Sarah LN Clarke, Ann Bowron, Iris L Gonzalez, Sarah J Groves, Ruth Newbury-Ecob, Nicol Clayton, Robin P Martin, Beverly Tsai-Goodman, Vanessa Garratt, Michael Ashworth, Valerie M Bowen, Katherine R McCurdy, Michaela K Damin, Carolyn T Spencer, Matthew J Toth, Richard I Kelley…

    Citation: Orphanet Journal of Rare Diseases 2013 8:23

    Content type: Review

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  42. Families of children living with a rare disease report significant health and social burden, however, few studies have systematically examined family needs by using validated tools to assess the scope and exte...

    Authors: Matilda Anderson, Elizabeth J Elliott and Yvonne A Zurynski

    Citation: Orphanet Journal of Rare Diseases 2013 8:22

    Content type: Research

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  43. Congenital Hyperinsulinism is a condition with a number of genetic causes, but for the majority of patients, the underlying aetiology is unknown. We present here a rational argument for the use of computationa...

    Authors: Adam Stevens, Karen E Cosgrove, Raja Padidela, Mars S Skae, Peter E Clayton, Indraneel Banerjee and Mark J Dunne

    Citation: Orphanet Journal of Rare Diseases 2013 8:21

    Content type: Letter to the Editor

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  44. CRB1 mutations are reported as cause of severe congenital and early-onset retinal dystrophies (EORD) with different phenotypic manifestations, including Leber congenital amaurosis (LCA), retinitis pigmentosa (RP)...

    Authors: Marta Corton, Sorina D Tatu, Almudena Avila-Fernandez, Elena Vallespín, Ignacio Tapias, Diego Cantalapiedra, Fiona Blanco-Kelly, Rosa Riveiro-Alvarez, Sara Bernal, Blanca García-Sandoval, Montserrat Baiget and Carmen Ayuso

    Citation: Orphanet Journal of Rare Diseases 2013 8:20

    Content type: Research

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  45. To review the descriptive epidemiological data on neuronal ceroid lipofuscinoses (NCLs) in Italy, identify the spectrum of mutations in the causative genes, and analyze possible genotype-phenotype relations.

    Authors: Filippo Maria Santorelli, Barbara Garavaglia, Francesco Cardona, Nardo Nardocci, Bernardo Dalla Bernardina, Stefano Sartori, Agnese Suppiej, Enrico Bertini, Dianela Claps, Roberta Battini, Roberta Biancheri, Mirella Filocamo, Francesco Pezzini and Alessandro Simonati

    Citation: Orphanet Journal of Rare Diseases 2013 8:19

    Content type: Research

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  46. Neuro-Behçet’s disease (NBD) involves the central nervous system; peripheral nervous system involvement is not often reported. NBD is quite common in adult patients and occurs rarely during childhood and adole...

    Authors: Paolo Mora, Chiara Menozzi, Jelka G Orsoni, Pierangela Rubino, Livia Ruffini and Arturo Carta

    Citation: Orphanet Journal of Rare Diseases 2013 8:18

    Content type: Review

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  47. Bullous pemphigoid is a subepidermal blistering disorder associated with tissue-bound and circulating autoantibodies directed mainly to the hemidesmosomal component collagen XVII. While recapitulating the main...

    Authors: Mircea Teodor Chiriac, Emilia Licarete, Alexandra Gabriela Sas, Andreea Maria Rados, Iulia Lupan, Anca Mirela Chiriac, Hilda Speth, Vlad Pop-Vancia, Iacob Domsa, Alina Sesarman, Octavian Popescu and Cassian Sitaru

    Citation: Orphanet Journal of Rare Diseases 2013 8:17

    Content type: Research

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