miR-411 is up-regulated in FSHD myoblasts and suppresses myogenic factors.

abstract：BACKGROUND:Hunter syndrome (mucopolysaccharidosis type II (MPS II)) is a rare metabolic disease that can severely compromise health, well-being and life expectancy. Little evidence has been published on the impact of MPS II on health-related quality of life (HRQL). The objective of this study was to describe this impac...

journal_title：Orphanet journal of rare diseases

authors： Raluy-Callado M,Chen WH,Whiteman DA,Fang J,Wiklund I

更新日期：2013-07-10 00:00:00

abstract：BACKGROUND:Stiff Person Syndrome (SPS) is a rare autoimmune movement disorder characterized by the presence of autoantibodies specific to the smaller isoform of glutamate decarboxylase (GAD65). A pathological role of these antibodies has been suggested by their capacity to inhibit GAD65 enzyme activity and by the obser...

journal_title：Orphanet journal of rare diseases

authors： Hampe CS,Petrosini L,De Bartolo P,Caporali P,Cutuli D,Laricchiuta D,Foti F,Radtke JR,Vidova V,Honnorat J,Manto M

更新日期：2013-06-05 00:00:00

abstract：:The Neuronal Ceroid Lipofuscinoses (NCLs) are a family of autosomal recessive neurodegenerative disorders that annually affect 1:100,000 live births worldwide. This family of diseases results from mutations in one of 14 different genes that share common clinical and pathological etiologies. Clinically, the diseases ar...

journal_title：Orphanet journal of rare diseases

authors： Geraets RD,Koh Sy,Hastings ML,Kielian T,Pearce DA,Weimer JM

更新日期：2016-04-16 00:00:00

abstract：BACKGROUND:Sporadic inclusion body myositis (sIBM) is the most prevalent muscle disease in elderly people, affecting the daily activities. sIBM is progressive with unknown cause and without effective treatment. In 2015, sIBM was classified as an intractable disease by the Japanese government, and the treatment cost was...

journal_title：Orphanet journal of rare diseases

authors： Suzuki N,Mori-Yoshimura M,Yamashita S,Nakano S,Murata KY,Mori M,Inamori Y,Matsui N,Kimura E,Kusaka H,Kondo T,Ito H,Higuchi I,Hashiguchi A,Nodera H,Kaji R,Tateyama M,Izumi R,Ono H,Kato M,Warita H,Takahashi T,Ni

更新日期：2019-06-26 00:00:00

abstract：BACKGROUND:Mitochondrial disease (MD) is a heterogeneous group of disorders characterized by impaired energy production caused by abnormal oxidative phosphorylation. Diagnosis of MD is challenging given the variability in how the disease can affect an individual's neurologic, cardiovascular, ophthalmologic, or gastroen...

journal_title：Orphanet journal of rare diseases

authors： Cohen B,Balcells C,Hotchkiss B,Aggarwal K,Karaa A

更新日期：2018-11-22 00:00:00

abstract：BACKGROUND:While extraocular muscles are affected early in myasthenia gravis (MG), but respond to treatment, we observe a high incidence of treatment-resistant ophthalmoplegia (OP-MG) among MG subjects with African genetic ancestry. Previously, using whole exome sequencing, we reported potentially functional variants w...

journal_title：Orphanet journal of rare diseases

authors： Nel M,Prince S,Heckmann JM

更新日期：2019-01-29 00:00:00

abstract：BACKGROUND:Short-chain enoyl-CoA hydratase (SCEH, encoded by ECHS1) catalyzes hydration of 2-trans-enoyl-CoAs to 3(S)-hydroxy-acyl-CoAs. SCEH has a broad substrate specificity and is believed to play an important role in mitochondrial fatty acid oxidation and in the metabolism of branched-chain amino acids. Recently, t...

journal_title：Orphanet journal of rare diseases

authors： Ferdinandusse S,Friederich MW,Burlina A,Ruiter JP,Coughlin CR 2nd,Dishop MK,Gallagher RC,Bedoyan JK,Vaz FM,Waterham HR,Gowan K,Chatfield K,Bloom K,Bennett MJ,Elpeleg O,Van Hove JL,Wanders RJ

更新日期：2015-06-18 00:00:00

abstract：:The European Union Committee of Experts on Rare Diseases was entrusted with aiding the European Commission in a number of tasks, ranging from the monitoring of initiatives, to recommending improvements and actions to be pursued in the future, in addition to helping strengthen liaison at both European and International...

journal_title：Orphanet journal of rare diseases

authors： Aymé S,Rodwell C

更新日期：2014-02-28 00:00:00

abstract：BACKGROUND:Niemann-Pick type C1 disease (NPC1) is a rare progressive neurodegenerative disorder caused by mutations in the NPC1 gene. In this lysosomal storage disorder the intracellular transport and sequestration of several lipids like cholesterol is severely impaired, resulting in an accumulation of lipids in late e...

journal_title：Orphanet journal of rare diseases

authors： Trilck M,Hübner R,Seibler P,Klein C,Rolfs A,Frech MJ

更新日期：2013-09-18 00:00:00

abstract：BACKGROUND:Segmental Xp22.2 monosomy or a heterozygous HCCS mutation is associated with the microphthalmia with linear skin defects (MLS) or MIDAS (microphthalmia, dermal aplasia, and sclerocornea) syndrome, an X-linked disorder with male lethality. HCCS encodes the holocytochrome c-type synthase involved in mitochondr...

journal_title：Orphanet journal of rare diseases

authors： van Rahden VA,Rau I,Fuchs S,Kosyna FK,de Almeida HL Jr,Fryssira H,Isidor B,Jauch A,Joubert M,Lachmeijer AM,Zweier C,Moog U,Kutsche K

更新日期：2014-04-15 00:00:00

abstract：BACKGROUND:Most patients with alpha-1 antitrypsin deficiency remain undiagnosed and therefore do not benefit from current therapies or become eligible for research studies of new treatments under development. Improving the detection rate for AATD is therefore a high priority for the Alpha-1 Foundation. A workshop was h...

journal_title：Orphanet journal of rare diseases

authors： Brantly M,Campos M,Davis AM,D'Armiento J,Goodman K,Hanna K,O'Day M,Queenan J,Sandhaus R,Stoller J,Strange C,Teckman J,Wanner A

更新日期：2020-04-19 00:00:00

abstract：BACKGROUND:Prader-Willi syndrome (PWS) is a complex neurodevelopmental genetic disorder with hypothalamic dysfunction, early morbid obesity with hyperphagia, and specific psychiatric phenotypes including cognitive and behavioural problems, particularly disruptive behaviours and frequent temper outbursts that preclude s...

journal_title：Orphanet journal of rare diseases

authors： Tauber M,Mantoulan C,Copet P,Jauregui J,Demeer G,Diene G,Rogé B,Laurier V,Ehlinger V,Arnaud C,Molinas C,Thuilleaux D

更新日期：2011-06-24 00:00:00

abstract：:Since its enactment in 2000, the European Orphan Medicinal Products Regulation has allowed the review and approval of approaching 70 treatments for some 55 different conditions in Europe. Success does not come without a price, however. Many of these so-called "orphan drugs" have higher price points than treatments for...

journal_title：Orphanet journal of rare diseases

authors： Hughes-Wilson W,Palma A,Schuurman A,Simoens S

更新日期：2012-09-26 00:00:00

abstract：:Huntington's disease (HD) is a progressive neurodegenerative hereditary disease clinically characterised by the presence of involuntary movements, behavioural problems and cognitive decline. The disease-onset is usually between 30 and 50 years of age. HD is a rare disorder affecting approximately 1.3 in 10,000 people ...

journal_title：Orphanet journal of rare diseases

authors： Marelli C,Maschat F

更新日期：2016-03-17 00:00:00

abstract：:The ACTA2 gene encodes for smooth muscle specific α-actin, a critical component of the contractile apparatus of the vascular smooth muscle cell. Pathogenic variants in the ACTA2 gene are the most frequently encountered genetic cause of non-syndromic hereditary thoracic aortic disease (HTAD). Although thoracic aortic a...

journal_title：Orphanet journal of rare diseases

authors： van de Laar IMBH,Arbustini E,Loeys B,Björck E,Murphy L,Groenink M,Kempers M,Timmermans J,Roos-Hesselink J,Benke K,Pepe G,Mulder B,Szabolcs Z,Teixidó-Turà G,Robert L,Emmanuel Y,Evangelista A,Pini A,von Kodolitsch Y,J

更新日期：2019-11-21 00:00:00

abstract：BACKGROUND:Huntington's disease (HD) is a devastating brain disorder with no effective treatment or cure available. The scarcity of brain tissue makes it hard to study changes in the brain and impossible to perform longitudinal studies. However, peripheral pathology in HD suggests that it is possible to study the disea...

journal_title：Orphanet journal of rare diseases

authors： Mina E,van Roon-Mom W,Hettne K,van Zwet E,Goeman J,Neri C,A C 't Hoen P,Mons B,Roos M

更新日期：2016-08-01 00:00:00

abstract：BACKGROUND:Clinical care guidelines are typically developed by clinicians and researchers. Including patient and caregiver voices in guideline development may help create guidelines that are more useful for patients and consequently improve their guideline adherence. Although there is substantial research on the factor...

journal_title：Orphanet journal of rare diseases

authors： Denger B,Kinnett K,Martin A,Grant S,Armstrong C,Khodyakov D

更新日期：2019-08-20 00:00:00

abstract：BACKGROUND:Fibrous dysplasia is a rare bone disorder, commonly associated with pain, deformity and fractures, which may significantly impact on quality of life. In this study we evaluate quality of life in patients with fibrous dysplasia using the Short Form-36 and the Brief Pain Inventory questionnaires. Data were com...

journal_title：Orphanet journal of rare diseases

authors： Majoor BCJ,Andela CD,Bruggemann J,van de Sande MAJ,Kaptein AA,Hamdy NAT,Dijkstra PDS,Appelman-Dijkstra NM

更新日期：2017-04-27 00:00:00

abstract：:Autosomal recessive cerebellar ataxias (ARCA) are a heterogeneous group of rare neurological disorders involving both central and peripheral nervous system, and in some case other systems and organs, and characterized by degeneration or abnormal development of cerebellum and spinal cord, autosomal recessive inheritanc...

journal_title：Orphanet journal of rare diseases

authors： Palau F,Espinós C

更新日期：2006-11-17 00:00:00

abstract：BACKGROUND:Duchenne muscular dystrophy (DMD) manifests in males mainly by skeletal muscle impairment, but also by cardiac dysfunction. The assessment of the early phases of cardiac involvement using echocardiography is often very difficult to perform in these patients. The aim of the study was to use cardiac magnetic r...

journal_title：Orphanet journal of rare diseases

authors： Panovský R,Pešl M,Máchal J,Holeček T,Feitová V,Juříková L,Masárová L,Pešlová E,Opatřil L,Mojica-Pisciotti ML,Kincl V

更新日期：2021-01-30 00:00:00

abstract：BACKGROUND:Prader-Willi syndrome (PWS) is often related to severe obesity and type-2 diabetes mellitus (T2DM). However, few studies, and none in Korea, have examined prevalence of T2DM and other variables in PWS. The aim of this study was to identify the prevalence and associated risk factors for T2DM in Korean patient...

journal_title：Orphanet journal of rare diseases

authors： Yang A,Kim J,Cho SY,Jin DK

更新日期：2017-08-30 00:00:00

abstract：BACKGROUND:Behçet's Disease (BD) is a chronic auto-inflammatory, multisystem relapsing/remitting disorder of unknown aetiology. Oro-genital ulceration is a key feature of the disease and has a major impact on the patients' quality of life. Other clinical manifestations include ocular inflammation, rheumatologic and ski...

journal_title：Orphanet journal of rare diseases

authors： Senusi A,Seoudi N,Bergmeier LA,Fortune F

更新日期：2015-09-22 00:00:00

abstract：:Arrhythmogenic cardiomyopathy (AC) is a heart muscle disease clinically characterized by life-threatening ventricular arrhythmias and pathologically by an acquired and progressive dystrophy of the ventricular myocardium with fibro-fatty replacement. Due to an estimated prevalence of 1:2000-1:5000, AC is listed among r...

journal_title：Orphanet journal of rare diseases

authors： Pilichou K,Thiene G,Bauce B,Rigato I,Lazzarini E,Migliore F,Perazzolo Marra M,Rizzo S,Zorzi A,Daliento L,Corrado D,Basso C

更新日期：2016-04-02 00:00:00

abstract：BACKGROUND:Tuberous sclerosis complex (TSC) is a rare autosomal dominant disorder forming hamartomas throughout the body. Facial angiofibromas (FAs) occur in 75% of TSC patients, which are often enlarged, impairing the appearance of the face, and reducing the patient's quality of life (QOL). The aim of this study was t...

journal_title：Orphanet journal of rare diseases

authors： Hatano T,Ohno Y,Imai Y,Moritake J,Endo K,Tamari M,Egawa S

更新日期：2020-06-01 00:00:00

abstract：BACKGROUND:Epidermolysis bullosa acquisita (EBA) is an orphan autoimmune disease. Several clinical phenotypes have been described, but subepidermal blistering is characteristic of all variants. Limited data on clinical and immunopathological characteristics and treatment outcomes in EBA are available. To fill this gap,...

journal_title：Orphanet journal of rare diseases

authors： Iwata H,Vorobyev A,Koga H,Recke A,Zillikens D,Prost-Squarcioni C,Ishii N,Hashimoto T,Ludwig RJ

更新日期：2018-09-04 00:00:00

abstract：BACKGROUND:The vision loss in Leber hereditary optic neuropathy patients is due to mitochondrial DNA mutations. No treatment has shown a clear-cut benefit on a clinically meaningful end-point. However, clinical evidences suggest two therapeutic approaches: the reduction of the mutation load in heteroplasmic patients or...

journal_title：Orphanet journal of rare diseases

authors： Emperador S,López-Gallardo E,Hernández-Ainsa C,Habbane M,Montoya J,Bayona-Bafaluy MP,Ruiz-Pesini E

更新日期：2019-06-21 00:00:00

abstract：:Vici syndrome [OMIM242840] is a severe, recessively inherited congenital disorder characterized by the principal features of callosal agenesis, cataracts, oculocutaneous hypopigmentation, cardiomyopathy, and a combined immunodeficiency. Profound developmental delay, progressive failure to thrive and acquired microceph...

journal_title：Orphanet journal of rare diseases

authors： Byrne S,Dionisi-Vici C,Smith L,Gautel M,Jungbluth H

更新日期：2016-02-29 00:00:00

abstract：BACKGROUND:Patients with the metabolic disorder classical galactosemia suffer from long-term complications despite a galactose-restricted diet, including a below average intelligence level. The aim of the current review was to investigate the incidence and profile of cognitive impairments in patients with classical gal...

journal_title：Orphanet journal of rare diseases

authors： Hermans ME,Welsink-Karssies MM,Bosch AM,Oostrom KJ,Geurtsen GJ

更新日期：2019-10-18 00:00:00

abstract：BACKGROUND:The TRPV4 gene encodes a calcium-permeable ion-channel that is widely expressed, responds to many different stimuli and participates in an extraordinarily wide range of physiologic processes. Autosomal dominant brachyolmia, spondylometaphyseal dysplasia Kozlowski type (SMDK) and metatropic dysplasia (MD) are...

journal_title：Orphanet journal of rare diseases

authors： Andreucci E,Aftimos S,Alcausin M,Haan E,Hunter W,Kannu P,Kerr B,McGillivray G,McKinlay Gardner RJ,Patricelli MG,Sillence D,Thompson E,Zacharin M,Zankl A,Lamandé SR,Savarirayan R

更新日期：2011-06-09 00:00:00

abstract：BACKGROUND:Glutaric aciduria type I (GA-I) is a rare metabolic disorder caused by inherited deficiency of glutaryl-CoA dehydrogenase. Despite high prognostic relevance of early diagnosis and start of metabolic treatment as well as an additional cost saving potential later in life, only a limited number of countries rec...

journal_title：Orphanet journal of rare diseases

authors： Pfeil J,Listl S,Hoffmann GF,Kölker S,Lindner M,Burgard P

更新日期：2013-10-17 00:00:00