Results 71 to 80 of about 805 (150)

Removing uncertainty from variants of unknown significance. [PDF]

J Clin Invest, 2023
McNally EM.
europepmc   +1 more source

The Role of P2X7 Purinoceptors in the Pathogenesis and Treatment of Muscular Dystrophies. [PDF]

Int J Mol Sci, 2023
Zabłocki K, Górecki DC.
europepmc   +1 more source

Large Region of Homozygous (ROH) Identified in Indian Patients with Autosomal Recessive Limb-Girdle Muscular Dystrophy with p.Thr182Pro Variant in <i>SGCB</i> Gene. [PDF]

Hum Mutat, 2023
Manjunath V, Thenral SG, Lakshmi BR, Nalini A, Bassi A, Karthikeyan KP, Piyusha K, Menon R, Malhotra A, Praveena LS, Anjanappa RM, Murugan SMS, Polavarapu K, Bardhan M, Preethish-Kumar V, Vengalil S, Nashi S, Sanga S, Acharya M, Raju R, Pai VR, Ramprasad VL, Gupta R.   +22 more
europepmc   +1 more source

Concept Elicitation Interviews and Conceptual Model to Understand the Patient Experience of Limb Girdle Muscular Dystrophy. [PDF]

Adv Ther, 2023
Johnston K, Casstevens C, Patel VP, Merikle E, Presnall C, Audhya I.   +5 more
europepmc   +1 more source

MRI in sarcoglycanopathies: a large international cohort study

, 2018
\ua9 Article author(s) (or their employer(s) unless otherwise stated in the text of the article) 2018. All rights reserved. No commercial use is permitted unless otherwise expressly granted.
Mercuri E, D'Amico A, van Engelen BGM, Vissing J, Magnano G, Dastgir J, Bonnemann CG, Lokken N, Fattori F, Munell F, Pichiecchio A, Voermans NC, Diaz-Manera J, Carlier R-Y, Straub V, Brisca G, Monforte M, Walter MC, Tasca G, Quijano-Roy S, Maggi L, Alshaikh N, Bruno C, Vlodavets D, Bertini E, Udd B, Muntoni F, Sanchez A, Maccagnano E, Marini-Bettolo C, Semplicini C, Berardinelli A, Haberlova J, Pegoraro E, Ricci E   +34 more
core   +1 more source

Clinical, demographic and genetic features of pediatric limb-girdle muscular dystrophy in the Çukurova region. [PDF]

Ital J Pediatr
Güner Özcanyüz D, GüL Mert G, Özcan N, Bilge S, İncecik F, Zorludemir S, Tuğ Bozdoğan S, Hergüner MÖ.   +7 more
europepmc   +1 more source

Alpha Sarcoglycanopathy in a Turkish Family [PDF]

SAJ Case Reports, 2018
Gurkan G, Ozlem BAG, Akıncı G, Unalp A, Diniz G   +4 more
openaire   +1 more source

Sarcoglycanopathies: From clinical diagnosis to new promising therapies. [PDF]

J Neuromuscul Dis
Borland H, Diaz-Manera J.
europepmc   +1 more source

Clinical and genetic spectrum of a large cohort of patients with δ-sarcoglycan muscular dystrophy. [PDF]

Brain, 2022
Alonso-Pérez J, González-Quereda L, Bruno C, Panicucci C, Alavi A, Nafissi S, Nilipour Y, Zanoteli E, Isihi LMA, Melegh B, Hadzsiev K, Muelas N, Vílchez JJ, Dourado ME, Kadem N, Kutluk G, Umair M, Younus M, Pegorano E, Bello L, Crawford TO, Suárez-Calvet X, Töpf A, Guglieri M, Marini-Bettolo C, Gallano P, Straub V, Díaz-Manera J.   +27 more
europepmc   +1 more source

Identification of molecular mechanisms and innovative therapeutic approaches in sarcoglycanopathies

, 2016
Les sarcoglycanopathies sont des dystrophies musculaires récessives (LGMD2D, E, C, F) causées par des mutations dans les gènes codant les sarcoglycanes (SG) alpha,béta, gamma et delta.
Patissier, Cécile
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