Mots-clés
Documents disponibles dans cette catégorie (831)
Article
Bird TD | 21/03/2024Initial Posting: September 17, 1999; Last Revision: March 21, 2024. Clinical characteristics. Myotonic dystrophy type 1 (DM1) is a multisystem disorder that affects skeletal and smooth muscle as well as the eye, heart, endocrine system, an[...]Article
Bird TD | 14/03/2024Initial Posting: September 28, 1998; Last Revision: March 14, 2024. The purpose of this overview is to increase the awareness of clinicians regarding Charcot-Marie-Tooth (CMT) hereditary neuropathy, its causes, and its management. The followi[...]Article
Thada PK ; Bhandari J ; Umapathi KK | 30/01/2024Last Update: January 30, 2024 [Previous update: May 29, 2023]Article
Wirth T ; Bonnet C ; Delvallée C ; Pellerin D ; Bogdan T ; Clément G ; Schalk A ; Chanson JB ; Fleury MC ; Piton A ; Calmels N ; Namer IJ ; Kremer S ; Brais B ; Tranchant C ; Renaud M ; Anheim M | 23/01/2024Article
Pugliese A ; Della Marina A ; de Paula Estephan E ; Zanoteli E ; Roos A ; Schara-Schmidt U ; Hentschel A ; Azuma Y ; Topf A ; Thompson R ; Polavarapu K ; Lochmuller H | 04/11/2023Article
Initial Posting: August 31, 2007; Last Revision: November 2, 2023. Clinical characteristics. Pompe disease is classified by age of onset, organ involvement, severity, and rate of progression. Infantile-onset Pompe disease (IOPD; indiv[...]Article
Cluse F ; Hermier M ; Demarquay G ; Rogemond V ; Mallaret M ; Svahn J ; Pégat A ; Honnorat J ; Bernard E | 22/08/2023Article
Last Update: August 22, 2023. [Previous version: 2020]Article
Last Update: August 14, 2023. [Published : May 9, 2022]Article
Article
Last Update: August 12, 2023. [Revious version February 15, 2022]Article
Leslie ND ; Saenz-Ayala S | 13/07/2023In: Adam MP, Mirzaa GM, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993 Initial Posting: May 28, 2009; Last Revision: July 13, 2023 (Previous Update: June 16, 2022) CLINICAL CHARACT[...]Article
Article
Uneoka S ; Kobayashi T ; Numata-Uematsu Y ; Oikawa Y ; Katata Y ; Okubo Y ; Abe Y ; Kikuchi A ; Takayama J ; Tamiya G ; Kure S ; Saito K ; Uematsu M | 12/06/2023Article
Article
Last Update: May 29, 2023 ( Published : June 24, 2020, Previous update : May 9, 2022)Article
Last Update: May 29, 2023 [Previous update: May 8, 2022]Article
Last Update: May 25, 2023. [Previous version: August 10, 2020]Article
Sangadala S ; Shore EM ; Xu M ; Bergwitz C ; Lozano-Calderon SA ; Lin AE ; Boden SD ; Kaplan FS | 23/05/2023Article
In: Adam MP, Mirzaa GM, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2023. Initial Posting: March 30, 2023. CLINICAL CHARACTERISTICS: CHKB-related muscular dystrophy (CHKB-MD), r[...]Article
Di Feo MF ; Lillback V ; Jokela M ; McEntagart M ; Homfray T ; Giorgio E ; Casalis Cavalchini GC ; Brusco A ; Iascone M ; Spaccini L ; D'Oria P ; Savarese M ; Udd B | England | 28/03/2023Article
Article
Article
Article
La Spada A | 15/12/2022Initial Posting: February 26, 1999; Last Update: December 15, 2022. Clinical characteristics. Spinal and bulbar muscular atrophy (SBMA) is a gradually progressive neuromuscular disorder in which degeneration of lower motor neurons results in[...]Article
Granger A ; Beecher G ; Liewluck T ; Nicolau S ; Flanigan KM ; Laughlin RS ; Milone M | England | 15/12/2022Article
Ogasawara M ; Eura N ; Iida A ; Kumutpongpanich T ; Minami N ; Nonaka I ; Hayashi S ; Noguchi S ; Nishino I | England | 07/12/2022Article
Angelini C | 01/12/2022Initial Posting: May 10, 2005; Last Update: December 1, 2022. Clinical characteristics. Calpainopathy is characterized by symmetric and progressive weakness of proximal limb-girdle muscles. Clinical findings of calpainopathy include the tend[...]Reco PNDS
Collectif | 11/2022Ce protocole national de diagnostic et de soins (PNDS) explicite aux professionnels concernés la prise en charge diagnostique et thérapeutique optimale et le parcours de soins des patients atteints de myopathies liées au collagène de type VI (CO[...]Article
Last Update: October 10, 2022 [Previous update: July 12, 2021; February 15, 2021]Reco PNDS
Collectif | 10/2022Ce protocole national de diagnostic et de soins (PNDS) explicite aux professionnels concernés la prise en charge diagnostique et thérapeutique optimale et le parcours de soins d’un malade atteint de laminopathie avec atteinte cardiaque. Il a été[...]Article
Article
Jain A ; Al Khalili Y | 21/07/2022Last Update: July 21, 2022 (Previous versions : July 10, 2021 - December 15, 2020)Article
Article
Last Update: July 18, 2022 (previous version : November 20, 2020)Article
Article
Article
Al Shehri A ; Al-Asmi A ; Al Salti AM ; Almadani A ; Hassan A ; Bamaga AK ; Cupler EJ ; Al-Hashel J ; Alabdali MM ; Alanazy MH ; Noori S | Netherlands | 23/06/2022Article
Last Update: July 8, 2021. (previous version July 8, 2020)Article
Last Update: May 8, 2022. (previous version July 6, 2021)Article
Last Update: May 8, 2022 (previous version May 9, 2021)Article
Last Update: May 8, 2022 (Previous update : October 10, 2021)Article
Last Update: May 15, 2022 . (previous version July 4, 2021)Article
Pfeffer G ; Chinnery PF | 14/04/2022Initial Posting: February 27, 2014; Last Update: April 14, 2022. Clinical characteristics. Hereditary myopathy with early respiratory failure (HMERF) is a slowly progressive myopathy that typically begins in the third to fifth decades of l[...]Article
Pichette E ; O'Ferrall E ; Karamchandani J ; Savarese M ; Udd B ; Massie R | Netherlands | 29/01/2022Article