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pathologie
Commentaire :
Branche de la médecine qui étudie les maladies et les troubles qu'elles produisent dans l'organisme. (Dictionnaire médical de poche, 04/10/2006)
Synonyme(s)pathology |
Documents disponibles dans cette catégorie (4634)
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Foley AR ; Mohassel P ; Donkervoort S ; Bolduc V ; Bonnemann CG | 11/03/2021Initial Posting: June 25, 2004; Last Update: March 11, 2021. Clinical characteristics. Collagen VI-related dystrophies (COL6-RDs) represent a continuum of overlapping clinical phenotypes with Bethlem muscular dystrophy at the milder end, U[...]Article
Azzedine H ; Salih MA | 11/03/2021Initial Posting: March 31, 2008; Last Update: March 11, 2021. Clinical characteristics. SH3TC2-related hereditary motor and sensory neuropathy (SH3TC2-HMSN) is a demyelinating neuropathy characterized by severe spine deformities (scoliosis[...]Article
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Initial Posting: August 3, 2005; Last Update: February 25, 2021. Clinical characteristics. Myotonia congenita is characterized by muscle stiffness present from childhood; all striated muscle groups including the extrinsic eye muscles, faci[...]Article
Weiss L ; Jung KM ; Nalbandian A ; Llewellyn K ; Yu H ; Ta L ; Chang I ; Migliore M ; Squire E ; Ahmed F ; Piomelli D ; Kimonis V | 25/02/2021Article
Bora G ; Hensel N ; Rademacher S ; Koyunoğlu D ; Sunguroğlu M ; Aksu Menges E ; Balcı-Hayta B ; Claus P ; Erdem-Yurter H | England | 25/02/2021Article
Yalcintepe S ; Gurkan H ; Gungor Dogan I ; Demir S ; Ozemri Sag S ; Manav Kabayegit Z ; Atli EI ; Atli E ; Eker D ; Temel SG | Turkey | 22/02/2021Article
Ventura F ; Williams E ; Ikeya M ; Bullock AN ; Ten Dijke P ; Goumans MJ ; Sanchez-Duffhues G | 19/02/2021Article
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Lemmers RJLF ; van der Vliet PJ ; Blatnik A ; Balog J ; Zidar J ; Henderson D ; Goselink R ; Tapscott SJ ; Voermans NC ; Tawil R ; Padberg GWAM ; van Engelen BG ; van der Maarel SM | England | 12/01/2021Article
Kohlschmidt N ; Elbracht M ; Czech A ; Häusler M ; Phan V ; Topf A ; Huang KT ; Bartok A ; Eggermann K ; Zippel S ; Eggermann T ; Freier E ; Gross C ; Lochmuller H ; Horvath R ; Hajnoczky G ; Weis J ; Roos A | England | 11/01/2021Article
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Moore U ; Jacobs M ; Fernandez Torron R ; Llauger Rossello J ; Smith FE ; James M ; Mayhew A ; Rufibach L ; Carlier PG ; Blamire AM ; Day JW ; Jones KJ ; Bharucha-Goebel DX ; Salort-Campana E ; Pestronk A ; Walter MC ; Paradas C ; Stojkovic T ; Mori Yoshimura M ; Bravver E ; Pegoraro E ; Mendell JR ; Bushby K ; Straub V ; Diaz-Manera J | 16/12/2020Article
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Trollet C ; Boulinguiez A ; Roth F ; Stojkovic T ; Butler Browne G ; Evangelista T ; Lacau St Guily J ; Richard P | 22/10/2020Initial Posting: March 8, 2001; Last Update: October 22, 2020. Clinical characteristics. Oculopharyngeal muscular dystrophy (OPMD) is characterized by ptosis and dysphagia due to selective involvement of the muscles of the eyelids and phar[...]Article
McCray BA ; Schindler A ; Hoover-Fong JE ; Sumner CJ | 17/09/2020Initial Posting: May 15, 2014; Last Update: September 17, 2020. Clinical characteristics. The autosomal dominant TRPV4 disorders (previously considered to be clinically distinct phenotypes before their molecular basis was discovered) are n[...]Article
Initial Posting: April 2, 2009; Last Update: September 17, 2020. Clinical characteristics. Most individuals with classic GBE1 adult polyglucosan body disease (GBE1-APBD) present after age 40 years with unexplained progressive neurogenic bl[...]Article
Oliveira J ; Parente Freixo J ; Santos M ; Coelho T | 17/09/2020Initial Posting: June 7, 2012; Last Update: September 17, 2020. Clinical characteristics. The clinical manifestations of LAMA2 muscular dystrophy (LAMA2-MD) comprise a continuous spectrum ranging from severe congenital muscular dystrophy t[...]Article
Chrestian N | 27/08/2020Initial Posting: September 28, 1998; Last Update: August 27, 2020. Clinical characteristics. Hereditary neuropathy with liability to pressure palsies (HNPP) is characterized by recurrent acute sensory and motor neuropathy in a single or mu[...]Article
Dermatomyositis is a rare acquired immune-mediated muscle disease characterized by muscle weakness and skin rash. It is classified as one of the idiopathic inflammatory myopathies (IIM). Although all idiopathic inflammatory myopathies share the [...]Article
McElhanon KE ; Young N ; Hampton J ; Paleo BJ ; Kwiatkowski TA ; Beck EX ; Capati A ; Jablonski K ; Gurney T ; Perez MAL ; Aggarwal R ; Oddis CV ; Jarjour WN ; Weisleder N | 03/08/2020Article
Van Pelt DW ; Kharaz YA ; Sarver DC ; Eckhardt LR ; Dzierzawski JT ; Disser NP ; Piacentini AN ; Comerford E ; McDonagh B ; Mendias CL | 15/07/2020Article
Ferreira C ; Pierre G ; Thompson R ; Vernon H | 09/07/2020nitial Posting: October 9, 2014; Last Update: July 9, 2020. Clinical characteristics. Barth syndrome is characterized in affected males by cardiomyopathy, neutropenia, skeletal myopathy, prepubertal growth delay, and distinctive facial ges[...]Article
Deng J ; Yu J ; Li P ; Luan X ; Cao L ; Zhao J ; Yu M ; Zhang W ; Lv H ; Xie Z ; Meng L ; Zheng Y ; Zhao Y ; Gang Q ; Wang Q ; Liu J ; Zhu M ; Guo X ; Su Y ; Liang Y ; Liang F ; Hayashi T ; Maeda MH ; Sato T ; Ura S ; Oya Y ; Ogasawara M ; Iida A ; Nishino I ; Zhou C ; Yan C ; Yuan Y ; Hong D ; Wang Z | United States | 07/2020Article
Garcia-Rodriguez R ; Hiller M ; Jimenez-Gracia L ; van der Pal Z ; Balog J ; Adamzek K ; Aartsma Rus A ; Spitali P | United States | 07/2020Article
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Wurmser M ; Chaverot N ; Madani R ; Sakai H ; Negroni E ; Demignon J ; Saint-Pierre B ; Mouly V ; Amthor H ; Tapscott S ; Birchmeier C ; Tajbakhsh S ; Le Grand F ; Sotiropoulos A ; Maire P | 26/06/2020Article
Prasun P | 18/06/2020Clinical characteristics. Multiple acyl-CoA dehydrogenase deficiency (MADD) represents a clinical spectrum in which presentations can be divided into type I (neonatal onset with congenital anomalies), type II (neonatal onset without congenita[...]Article
Rietveld A ; van Gaalen J ; Saris C ; Okkersen K ; Kusters B ; van de Warrenburg B ; van Engelen B ; Sacconi S ; Raaphorst J | England | 06/2020Publication AFM
La maladie de Kennedy (ou amyotrophie bulbo-spinale liée à l’X) est une maladie rare d’origine génétique. Elle se manifeste à l'âge adulte par une faiblesse musculaire progressive et des troubles hormonaux. Elle est caractérisée par une dégénére[...]Publication AFM
Myoinfo, Auteur ; Strochlic L, Validateur ; Godard-Bauche S, Validateur | AFM-TELETHON | Savoir & Comprendre | 06/2020Les syndromes myasthéniques congénitaux sont des maladies rares, d'origine génétique. Ils se caractérisent par une faiblesse musculaire, localisée ou généralisée. Elle évolue de manière plus ou moins fluctuante, avec une tendance nette à s’aggr[...]Article
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Zhou Y ; Borchelt D ; Bauson JC ; Fazio S ; Miles JR ; Tavori H ; Notterpek L | United States | 06/2020Article
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Osman EY ; Van Alstyne M ; Yen PF ; Lotti F ; Feng Z ; Ling KK ; Ko CP ; Pellizzoni L ; Lorson CL | United States | 06/2020Article
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Landfeldt E ; Nikolenko N ; Jimenez-Moreno C ; Cumming S ; Monckton DG ; Faber CG ; Merkies ISJ ; Gorman G ; Turner C ; Lochmuller H | Germany | 06/2020Article
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Sawade L ; Grandi F ; Mignanelli M ; Patino-Lopez G ; Klinkert K ; Langa-Vives F ; Di Guardo R ; Echard A ; Bolino A ; Haucke V | 06/2020Article
Abstract from publisher web site : Facioscapulohumeral muscular dystrophy (FSHD) is the third most common form of muscular dystrophy. The disease is named by the initial pattern of weakness, with patients developing facial weakness, scapular wi[...]Article
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Suarez B ; Jofré J ; Lozano-Arango A ; Ortega X ; Diaz J ; Calcagno G ; Bevilacqua JA ; Castiglioni C | England | 06/2020Article
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Albrecht K ; Huscher D ; Callhoff J ; Richter JG ; Alexander T ; Henes J ; Zink A | Germany | 06/2020Article
Chen K ; Birkinshaw RW ; Gurzau AD ; Wanigasuriya I ; Wang R ; Iminitoff M ; Sandow JJ ; Young SN ; Hennessy PJ ; Willson TA ; Heckmann DA ; Webb AI ; Blewitt ME ; Czabotar PE ; Murphy JM | United States | 06/2020Article
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Ferry A ; Messéant J ; Parlakian A ; Lemaitre M ; Roy P ; Delacroix C ; Lilienbaum A ; Hovhannisyan Y ; Furling D ; Klein A ; Li Z ; Agbulut O | England | 06/2020Article
Zuchner S | 14/05/2020Initial Posting: February 18, 2005; Last Update: May 14, 2020. Clinical characteristics. MFN2 hereditary motor and sensory neuropathy (MFN2-HMSN) is a classic axonal peripheral sensorimotor neuropathy, inherited in either an autosomal domi[...]Article
Dupont C ; Novak K ; Denman K ; Myers JH ; Sullivan JM ; Walker PV 2nd ; Brown NL ; Ladle DR ; Bogdanik L ; Lutz CM ; Voss A ; Sumner CJ ; Rich MM | United States | 05/2020Article
Rodolico C ; Politano L ; Portaro S ; Murru S ; Boccone L ; Sera F ; Passamano L ; Brizzi T ; Tupler R | England | 05/2020Article
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Morioka S ; Sakaguchi H ; Mohri H ; Taniguchi-Ikeda M ; Kanagawa M ; Suzuki T ; Miyagoe-Suzuki Y ; Toda T ; Saito N ; Ueyama T | 05/2020Article
Carrillo N ; Malicdan MC ; Huizing M | 09/04/2020Initial Posting: March 26, 2004; Last Update: April 9, 2020. Clinical characteristics. GNE myopathy is a slowly progressive muscle disease that typically presents between age 20 and 40 years with bilateral foot drop caused by anterior tibial[...]Article
Kim H ; Gunter-Rahman F ; McGrath JA ; Lee E ; de Jesus AA ; Targoff IN ; Huang Y ; O'Hanlon TP ; Tsai WL ; Gadina M ; Miller FW ; Goldbach-Mansky R ; Rider LG | 04/2020Article
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Knottnerus SJG ; Mengarelli I ; Wust RCI ; Baartscheer A ; Bleeker JC ; Coronel R ; Ferdinandusse S ; Guan K ; Ijlst L ; Li W ; Luo X ; Portero VM ; Ulbricht Y ; Visser G ; Wanders RJA ; Wijburg FA ; Verkerk AO ; Houtkooper RH ; Bezzina CR | 04/2020Article
Geroldi A ; Prada V ; Veneri F ; Trevisan L ; Origone P ; Grandis M ; Schenone A ; Gemelli C ; Lanteri P ; Fossa P ; Mandich P ; Bellone E | United States | 04/2020Article
Stunnenberg B ; LoRusso S ; Arnold WD ; Barohn RJ ; Cannon SC ; Fontaine B ; Griggs RC ; Hanna MG ; Matthews E ; Meola G ; Sansone VA ; Trivedi JR ; van Engelen B ; Vicart S ; Statland JM | United States | 04/2020Article
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Vanherpe P ; Fieuws S ; D'Hondt A ; Bleyenheuft C ; Demaerel P ; De Bleecker J ; van den Bergh P ; Baets J ; Remiche G ; Verhoeven K ; Delstanche S ; Toussaint M ; Buyse B ; Van Damme P ; Depuydt CE ; Claeys KG | 04/2020Article
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Schoser B | 19/03/2020Initial Posting: September 21, 2006; Last Update: March 19, 2020. Clinical characteristics. Myotonic dystrophy type 2 (DM2) is characterized by myotonia and muscle dysfunction (proximal and axial weakness, myalgia, and stiffness), and less[...]Article