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Items: 1 to 50 of 97

1.

MYO-MRI diagnostic protocols in genetic myopathies.

Chardon JW, Díaz-Manera J, Tasca G, Bönnemann CG, Gómez-Andrés D, Heerschap A, Mercuri E, Muntoni F, Pichiecchio A, Ricci E, Walter MC, Hanna M, Jungbluth H, Morrow JM, Torrón RF, Udd B, Vissing J, Yousry T, Quijano-Roy S, Straub V, Carlier RY; MYO-MRI Working Group.

Neuromuscul Disord. 2019 Sep 16. pii: S0960-8966(19)31102-2. doi: 10.1016/j.nmd.2019.08.011. [Epub ahead of print] Review.

PMID:
31727541
2.

POPDC3 Gene Variants Associate with a New Form of Limb Girdle Muscular Dystrophy.

Vissing J, Johnson K, Töpf A, Nafissi S, Díaz-Manera J, French VM, Schindler RF, Sarathchandra P, Løkken N, Rinné S, Freund M, Decher N, Müller T, Duno M, Krag T, Brand T, Straub V.

Ann Neurol. 2019 Oct 14. doi: 10.1002/ana.25620. [Epub ahead of print]

PMID:
31610034
3.

European muscle MRI study in limb girdle muscular dystrophy type R1/2A (LGMDR1/LGMD2A).

Barp A, Laforet P, Bello L, Tasca G, Vissing J, Monforte M, Ricci E, Choumert A, Stojkovic T, Malfatti E, Pegoraro E, Semplicini C, Stramare R, Scheidegger O, Haberlova J, Straub V, Marini-Bettolo C, Løkken N, Diaz-Manera J, Urtizberea JA, Mercuri E, Kynčl M, Walter MC, Carlier RY.

J Neurol. 2019 Sep 25. doi: 10.1007/s00415-019-09539-y. [Epub ahead of print]

PMID:
31555977
4.

Correction to: Eight years after an international workshop on myotonic dystrophy patient registries: case study of a global collaboration for a rare disease.

Wood L, Bassez G, Bleyenheuft C, Campbell C, Cossette L, Jimenez-Moreno AC, Dai Y, Dawkins H, Díaz-Manera J, Dogan C, El Sherif R, Fossati B, Graham C, Hilbert J, Kastreva K, Kimura E, Korngut L, Kostera-Pruszczyk A, Lindberg C, Lindvall B, Luebbe E, Lusakowska A, Mazanec R, Meola G, Orlando L, Takahashi MP, Peric S, Puymirat J, Rakocevic-Stojanovic V, Rodrigues M, Roxburgh R, Schoser B, Segovia S, Shatillo A, Thiele S, Tournev I, van Engelen B, Vohanka S, Lochmüller H.

Orphanet J Rare Dis. 2019 Aug 15;14(1):199. doi: 10.1186/s13023-019-1157-7.

5.

Study of the effect of anti-rhGAA antibodies at low and intermediate titers in late onset Pompe patients treated with ERT.

Fernández-Simón E, Carrasco-Rozas A, Gallardo E, González-Quereda L, Alonso-Pérez J, Belmonte I, Pedrosa-Hernández I, Montiel E, Segovia S, Suárez-Calvet X, Llauger J, Mayos M, Illa I, Barba-Romero MA, Barcena J, Paradas C, Carzorla MR, Creus C, Coll-Cantí J, Díaz M, Domínguez C, Fernández-Torrón R, García-Antelo MJ, Grau JM, López de Munáin A, Martínez-García FA, Morgado Y, Moreno A, Morís G, Muñoz-Blanco MA, Nascimento A, Parajuá-Pozo JL, Querol L, Rojas R, Robledo-Strauss A, Rojas-Marcos Í, Salazar JA, Usón M, Díaz-Manera J.

Mol Genet Metab. 2019 Jul 23. pii: S1096-7192(18)30784-4. doi: 10.1016/j.ymgme.2019.07.013. [Epub ahead of print]

PMID:
31378569
6.

Identification of serum microRNAs as potential biomarkers in Pompe disease.

Carrasco-Rozas A, Fernández-Simón E, Lleixà MC, Belmonte I, Pedrosa-Hernandez I, Montiel-Morillo E, Nuñez-Peralta C, Llauger Rossello J, Segovia S, De Luna N, Suarez-Calvet X, Illa I; Pompe Spanish Study group, Díaz-Manera J, Gallardo E.

Ann Clin Transl Neurol. 2019 Jul;6(7):1214-1224. doi: 10.1002/acn3.50800. Epub 2019 Jun 12.

7.

Identification and Characterization of New RNASEH1 Mutations Associated With PEO Syndrome and Multiple Mitochondrial DNA Deletions.

Carreño-Gago L, Blázquez-Bermejo C, Díaz-Manera J, Cámara Y, Gallardo E, Martí R, Torres-Torronteras J, García-Arumí E.

Front Genet. 2019 Jun 14;10:576. doi: 10.3389/fgene.2019.00576. eCollection 2019.

8.

Spanish Pompe registry: Baseline characteristics of first 49 patients with adult onset of Pompe disease.

Alonso-Pérez J, Segovia S, Domínguez-González C, Olivé M, Mendoza Grimón MD, Fernández-Torrón R, López de Munain A, Muñoz-Blanco JL, Ramos-Fransi A, Almendrote M, Illa I, Díaz-Manera J.

Med Clin (Barc). 2019 Jun 25. pii: S0025-7753(19)30346-X. doi: 10.1016/j.medcli.2019.03.036. [Epub ahead of print] English, Spanish.

PMID:
31253477
9.

Fibroadipogenic progenitors are responsible for muscle loss in limb girdle muscular dystrophy 2B.

Hogarth MW, Defour A, Lazarski C, Gallardo E, Diaz Manera J, Partridge TA, Nagaraju K, Jaiswal JK.

Nat Commun. 2019 Jun 3;10(1):2430. doi: 10.1038/s41467-019-10438-z.

10.

Late-onset thymidine kinase 2 deficiency: a review of 18 cases.

Domínguez-González C, Hernández-Laín A, Rivas E, Hernández-Voth A, Sayas Catalán J, Fernández-Torrón R, Fuiza-Luces C, García García J, Morís G, Olivé M, Miralles F, Díaz-Manera J, Caballero C, Méndez-Ferrer B, Martí R, García Arumi E, Badosa MC, Esteban J, Jimenez-Mallebrera C, Encinar AB, Arenas J, Hirano M, Martin MÁ, Paradas C.

Orphanet J Rare Dis. 2019 May 6;14(1):100. doi: 10.1186/s13023-019-1071-z.

11.

Clinical guide for the diagnosis and follow-up of myotonic dystrophy type 1, MD1 or Steinert's disease.

Gutiérrez Gutiérrez G, Díaz-Manera J, Almendrote M, Azriel S, Eulalio Bárcena J, Cabezudo García P, Camacho Salas A, Casanova Rodríguez C, Cobo AM, Díaz Guardiola P, Fernández-Torrón R, Gallano Petit MP, García Pavía P, Gómez Gallego M, Gutiérrez Martínez AJ, Jericó I, Kapetanovic García S, López de Munaín Arregui A, Martorell L, Morís de la Tassa G, Moreno Zabaleta R, Muñoz-Blanco JL, Olivar Roldán J, Pascual Pascual SI, Peinado Peinado R, Pérez H, Poza Aldea JJ, Rabasa M, Ramos A, Rosado Bartolomé A, Rubio Pérez MÁ, Urtizberea JA, Zapata-Wainberg G, Gutiérrez-Rivas E.

Neurologia. 2019 Apr 16. pii: S0213-4853(19)30019-2. doi: 10.1016/j.nrl.2019.01.001. [Epub ahead of print] English, Spanish.

12.

Correction: Absence of pathogenic mutations in CD59 in chronic inflammatory demyelinating polyradiculoneuropathy.

Duchateau L, Martín-Aguilar L, Lleixà C, Cortese A, Dols-Icardo O, Cervera-Carles L, Pascual-Goñi E, Diaz-Manera J, Callegari I, Franciotta D, Rojas-Garcia R, Illa I, Clarimon J, Querol L.

PLoS One. 2019 Apr 17;14(4):e0215784. doi: 10.1371/journal.pone.0215784. eCollection 2019.

13.

Clinical and laboratory features of anti-MAG neuropathy without monoclonal gammopathy.

Pascual-Goñi E, Martín-Aguilar L, Lleixà C, Martínez-Martínez L, Simón-Talero MJ, Díaz-Manera J, Cortés-Vicente E, Rojas-García R, Moga E, Juárez C, Illa I, Querol L.

Sci Rep. 2019 Apr 16;9(1):6155. doi: 10.1038/s41598-019-42545-8.

14.

Absence of pathogenic mutations in CD59 in chronic inflammatory demyelinating polyradiculoneuropathy.

Duchateau L, Martín-Aguilar L, Lleixà C, Cortese A, Dols-Icardo O, Cervera-Carles L, Pascual-Goñi E, Diaz-Manera J, Calegari I, Franciotta D, Rojas-Garcia R, Illa I, Clarimon J, Querol L.

PLoS One. 2019 Feb 22;14(2):e0212647. doi: 10.1371/journal.pone.0212647. eCollection 2019. Erratum in: PLoS One. 2019 Apr 17;14(4):e0215784.

15.

PDGF-BB serum levels are decreased in adult onset Pompe patients.

Fernández-Simón E, Carrasco-Rozas A, Gallardo E, Figueroa-Bonaparte S, Belmonte I, Pedrosa I, Montiel E, Suárez-Calvet X, Alonso-Pérez J, Segovia S, Nuñez-Peralta C, Llauger J, Mayos M, Illa I; Spanish Pompe Study Group, Díaz-Manera J.

Sci Rep. 2019 Feb 14;9(1):2139. doi: 10.1038/s41598-018-38025-0.

16.

Clinical guide for the diagnosis and follow-up of myotonic dystrophy type 1, MD1 or Steinert's disease.

Gutiérrez Gutiérrez G, Díaz-Manera J, Almendrote M, Azriel S, Eulalio Bárcena J, Cabezudo García P, Camacho Salas A, Casanova Rodríguez C, Cobo AM, Díaz Guardiola P, Fernández-Torrón R, Gallano Petit MP, García Pavía P, Gómez Gallego M, Gutiérrez Martínez AJ, Jericó I, Kapetanovic García S, López de Munaín Arregui A, Martorell L, Morís de la Tassa G, Moreno Zabaleta R, Muñoz-Blanco JL, Olivar Roldán J, Pascual Pascual SI, Peinado Peinado R, Pérez H, Poza Aldea JJ, Rabasa M, Ramos A, Rosado Bartolomé A, Rubio Pérez MÁ, Urtizberea JA, Zapata-Wainberg G, Gutiérrez-Rivas E.

Med Clin (Barc). 2019 Jul 19;153(2):82.e1-82.e17. doi: 10.1016/j.medcli.2018.10.028. Epub 2019 Jan 24. English, Spanish.

PMID:
30685181
17.

Assessment of disease progression in dysferlinopathy: A 1-year cohort study.

Moore U, Jacobs M, James MK, Mayhew AG, Fernandez-Torron R, Feng J, Cnaan A, Eagle M, Bettinson K, Rufibach LE, Lofra RM, Blamire AM, Carlier PG, Mittal P, Lowes LP, Alfano L, Rose K, Duong T, Berry KM, Montiel-Morillo E, Pedrosa-Hernández I, Holsten S, Sanjak M, Ashida A, Sakamoto C, Tateishi T, Yajima H, Canal A, Ollivier G, Decostre V, Mendez JB, Sánchez-Aguilera Praxedes N, Thiele S, Siener C, Shierbecker J, Florence JM, Vandevelde B, DeWolf B, Hutchence M, Gee R, Prügel J, Maron E, Hilsden H, Lochmüller H, Grieben U, Spuler S, Tesi Rocha C, Day JW, Jones KJ, Bharucha-Goebel DX, Salort-Campana E, Harms M, Pestronk A, Krause S, Schreiber-Katz O, Walter MC, Paradas C, Hogrel JY, Stojkovic T, Takeda S, Mori-Yoshimura M, Bravver E, Sparks S, Díaz-Manera J, Bello L, Semplicini C, Pegoraro E, Mendell JR, Bushby K, Straub V; Jain COS Consortium.

Neurology. 2019 Jan 9. pii: 10.1212/WNL.0000000000006858. doi: 10.1212/WNL.0000000000006858. [Epub ahead of print]

18.

Muscle MRI in a large cohort of patients with oculopharyngeal muscular dystrophy.

Alonso-Jimenez A, Kroon RHMJM, Alejaldre-Monforte A, Nuñez-Peralta C, Horlings CGC, van Engelen BGM, Olivé M, González L, Verges-Gil E, Paradas C, Márquez C, Garibaldi M, Gallano P, Rodriguez MJ, Gonzalez-Quereda L, Dominguez Gonzalez C, Vissing J, Fornander F, Eisum AV, García-Sobrino T, Pardo J, García-Figueiras R, Muelas N, Vilchez JJ, Kapetanovic S, Tasca G, Monforte M, Ricci E, Gomez MT, Bevilacqua JA, Diaz-Jara J, Zamorano II, Carlier RY, Laforet P, Pelayo-Negro A, Ramos-Fransi A, Martínez A, Marini-Bettolo C, Straub V, Gutiérrez G, Stojkovic T, Martín MA, Morís G, Fernández-Torrón R, Lopez De Munaín A, Cortes-Vicente E, Querol L, Rojas-García R, Illa I, Diaz-Manera J.

J Neurol Neurosurg Psychiatry. 2019 May;90(5):576-585. doi: 10.1136/jnnp-2018-319578. Epub 2018 Dec 8.

PMID:
30530568
19.

Effect of MAPK Inhibition on the Differentiation of a Rhabdomyosarcoma Cell Line Combined With CRISPR/Cas9 Technology: An In Vitro Model of Human Muscle Diseases.

De Luna N, Suarez-Calvet X, Garicano M, Fernandez-Simon E, Rojas-García R, Diaz-Manera J, Querol L, Illa I, Gallardo E.

J Neuropathol Exp Neurol. 2018 Oct 1;77(10):964-972. doi: 10.1093/jnen/nly078.

PMID:
30184235
20.

Muscle imaging in laminopathies: Synthesis study identifies meaningful muscles for follow-up.

GóMez-Andrés D, Díaz-Manera J, Alejaldre A, Pulido-Valdeolivas I, GonzáLez-Mera L, Olivé M, Vilchez JJ, De Munain AL, Paradas C, Muelas N, SáNchez-MontáÑez Á, Alonso-Jimenez A, De la Banda MGG, Dabaj I, Bonne G, Munell F, Carlier RY, Quijano-Roy S.

Muscle Nerve. 2018 Dec;58(6):812-817. doi: 10.1002/mus.26312. Epub 2018 Nov 18.

PMID:
30066418
21.

Ocular ptosis: differential diagnosis and treatment.

Díaz-Manera J, Luna S, Roig C.

Curr Opin Neurol. 2018 Oct;31(5):618-627. doi: 10.1097/WCO.0000000000000600. Review.

PMID:
30048338
22.

Quantitative muscle MRI to follow up late onset Pompe patients: a prospective study.

Figueroa-Bonaparte S, Llauger J, Segovia S, Belmonte I, Pedrosa I, Montiel E, Montesinos P, Sánchez-González J, Alonso-Jiménez A, Gallardo E, Illa I; Spanish Pompe group, Díaz-Manera J.

Sci Rep. 2018 Jul 18;8(1):10898. doi: 10.1038/s41598-018-29170-7.

23.

A new mutation of the SCGA gene is the cause of a late onset mild phenotype limb girdle muscular dystrophy type 2D with axial involvement.

Gonzalez-Quereda L, Gallardo E, Töpf A, Alonso-Jimenez A, Straub V, Rodriguez MJ, Lleixa C, Illa I, Gallano P, Diaz-Manera J.

Neuromuscul Disord. 2018 Aug;28(8):633-638. doi: 10.1016/j.nmd.2018.06.002. Epub 2018 Jul 13.

PMID:
30007747
24.

Nintedanib decreases muscle fibrosis and improves muscle function in a murine model of dystrophinopathy.

Piñol-Jurado P, Suárez-Calvet X, Fernández-Simón E, Gallardo E, de la Oliva N, Martínez-Muriana A, Gómez-Gálvez P, Escudero LM, Pérez-Peiró M, Wollin L, de Luna N, Navarro X, Illa I, Díaz-Manera J.

Cell Death Dis. 2018 Jul 10;9(7):776. doi: 10.1038/s41419-018-0792-6.

25.

A Roma founder BIN1 mutation causes a novel phenotype of centronuclear myopathy with rigid spine.

Cabrera-Serrano M, Mavillard F, Biancalana V, Rivas E, Morar B, Hernández-Laín A, Olive M, Muelas N, Khan E, Carvajal A, Quiroga P, Diaz-Manera J, Davis M, Ávila R, Domínguez C, Romero NB, Vílchez JJ, Comas D, Laing NG, Laporte J, Kalaydjieva L, Paradas C.

Neurology. 2018 Jul 24;91(4):e339-e348. doi: 10.1212/WNL.0000000000005862. Epub 2018 Jun 27.

26.

The impact of rituximab infusion protocol on the long-term outcome in anti-MuSK myasthenia gravis.

Cortés-Vicente E, Rojas-Garcia R, Díaz-Manera J, Querol L, Casasnovas C, Guerrero-Sola A, Muñoz-Blanco JL, Bárcena-Llona JE, Márquez-Infante C, Pardo J, Martínez-Fernández EM, Usón M, Oliva-Nacarino P, Sevilla T, Illa I.

Ann Clin Transl Neurol. 2018 Apr 14;5(6):710-716. doi: 10.1002/acn3.564. eCollection 2018 Jun.

27.

Antibodies against cell adhesion molecules and neural structures in paraneoplastic neuropathies.

Siles AM, Martínez-Hernández E, Araque J, Diaz-Manera J, Rojas-Garcia R, Gallardo E, Illa I, Graus F, Querol L.

Ann Clin Transl Neurol. 2018 Mar 26;5(5):559-569. doi: 10.1002/acn3.554. eCollection 2018 May.

28.

Muscle MRI in patients with dysferlinopathy: pattern recognition and implications for clinical trials.

Diaz-Manera J, Fernandez-Torron R, LLauger J, James MK, Mayhew A, Smith FE, Moore UR, Blamire AM, Carlier PG, Rufibach L, Mittal P, Eagle M, Jacobs M, Hodgson T, Wallace D, Ward L, Smith M, Stramare R, Rampado A, Sato N, Tamaru T, Harwick B, Rico Gala S, Turk S, Coppenrath EM, Foster G, Bendahan D, Le Fur Y, Fricke ST, Otero H, Foster SL, Peduto A, Sawyer AM, Hilsden H, Lochmuller H, Grieben U, Spuler S, Tesi Rocha C, Day JW, Jones KJ, Bharucha-Goebel DX, Salort-Campana E, Harms M, Pestronk A, Krause S, Schreiber-Katz O, Walter MC, Paradas C, Hogrel JY, Stojkovic T, Takeda S, Mori-Yoshimura M, Bravver E, Sparks S, Bello L, Semplicini C, Pegoraro E, Mendell JR, Bushby K, Straub V; Jain COS Consortium.

J Neurol Neurosurg Psychiatry. 2018 Oct;89(10):1071-1081. doi: 10.1136/jnnp-2017-317488. Epub 2018 May 7.

29.

[Isolated girdle weakness: expansion of the phenotypic spectrum of the MERRF 8344A>G mutation of mitochondrial DNA].

Erdocia-Goni A, Alonso-Jimenez A, Ramon-Carbajo C, Garcia-Arumi E, Casquero P, Gallardo E, Diaz-Manera J.

Rev Neurol. 2018 Apr 16;66(8):268-270. Spanish.

30.

Mcleod syndrome is a new cause of axial muscle weakness.

Díaz-Manera J, Sotoca-Fernández J, Alonso-Jiménez A, Marzo ME, Gallardo E, Segovia-Simón S, Siles AM, Illa I, Pagonabarraga J.

Muscle Nerve. 2018 Jan 30. doi: 10.1002/mus.26086. [Epub ahead of print] No abstract available.

PMID:
29381810
31.

Teenage exercise is associated with earlier symptom onset in dysferlinopathy: a retrospective cohort study.

Moore UR, Jacobs M, Fernandez-Torron R, Jang J, James MK, Mayhew A, Rufibach L, Mittal P, Eagle M, Cnaan A, Carlier PG, Blamire A, Hilsden H, Lochmüller H, Grieben U, Spuler S, Tesi Rocha C, Day JW, Jones KJ, Bharucha-Goebel DX, Salort-Campana E, Harms M, Pestronk A, Krause S, Schreiber-Katz O, Walter MC, Paradas C, Hogrel JY, Stojkovic T, Takeda S, Mori-Yoshimura M, Bravver E, Sparks S, Diaz-Manera J, Bello L, Semplicini C, Pegoraro E, Mendell JR, Bushby K, Straub V.

J Neurol Neurosurg Psychiatry. 2018 Nov;89(11):1224-1226. doi: 10.1136/jnnp-2017-317329. Epub 2018 Jan 29. No abstract available.

32.

Corpus callosum agenesis, myopathy and pinpoint pupils: consider Stormorken syndrome.

Alonso-Jiménez A, Ramón C, Dols-Icardo O, Roig C, Gallardo E, Clarimón J, Núñez-Peralta C, Díaz-Manera J.

Eur J Neurol. 2018 Feb;25(2):e25-e26. doi: 10.1111/ene.13545. No abstract available.

PMID:
29356264
33.

Anti-NF155 chronic inflammatory demyelinating polyradiculoneuropathy strongly associates to HLA-DRB15.

Martinez-Martinez L, Lleixà MC, Boera-Carnicero G, Cortese A, Devaux J, Siles A, Rajabally Y, Martinez-Piñeiro A, Carvajal A, Pardo J, Delmont E, Attarian S, Diaz-Manera J, Callegari I, Marchioni E, Franciotta D, Benedetti L, Lauria G, de la Calle Martin O, Juárez C, Illa I, Querol L.

J Neuroinflammation. 2017 Nov 16;14(1):224. doi: 10.1186/s12974-017-0996-1.

34.

Clinical Outcomes in Duchenne Muscular Dystrophy: A Study of 5345 Patients from the TREAT-NMD DMD Global Database.

Koeks Z, Bladen CL, Salgado D, van Zwet E, Pogoryelova O, McMacken G, Monges S, Foncuberta ME, Kekou K, Kosma K, Dawkins H, Lamont L, Bellgard MI, Roy AJ, Chamova T, Guergueltcheva V, Chan S, Korngut L, Campbell C, Dai Y, Wang J, Barišić N, Brabec P, Lähdetie J, Walter MC, Schreiber-Katz O, Karcagi V, Garami M, Herczegfalvi A, Viswanathan V, Bayat F, Buccella F, Ferlini A, Kimura E, van den Bergen JC, Rodrigues M, Roxburgh R, Lusakowska A, Kostera-Pruszczyk A, Santos R, Neagu E, Artemieva S, Rasic VM, Vojinovic D, Posada M, Bloetzer C, Klein A, Díaz-Manera J, Gallardo E, Karaduman AA, Oznur T, Topaloğlu H, El Sherif R, Stringer A, Shatillo AV, Martin AS, Peay HL, Kirschner J, Flanigan KM, Straub V, Bushby K, Béroud C, Verschuuren JJ, Lochmüller H.

J Neuromuscul Dis. 2017;4(4):293-306. doi: 10.3233/JND-170280.

35.

Antibodies against peripheral nerve antigens in chronic inflammatory demyelinating polyradiculoneuropathy.

Querol L, Siles AM, Alba-Rovira R, Jáuregui A, Devaux J, Faivre-Sarrailh C, Araque J, Rojas-Garcia R, Diaz-Manera J, Cortés-Vicente E, Nogales-Gadea G, Navas-Madroñal M, Gallardo E, Illa I.

Sci Rep. 2017 Oct 31;7(1):14411. doi: 10.1038/s41598-017-14853-4.

36.

Molecular characterization of congenital myasthenic syndromes in Spain.

Natera-de Benito D, Töpf A, Vilchez JJ, González-Quereda L, Domínguez-Carral J, Díaz-Manera J, Ortez C, Bestué M, Gallano P, Dusl M, Abicht A, Müller JS, Senderek J, García-Ribes A, Muelas N, Evangelista T, Azuma Y, McMacken G, Paipa Merchan A, Rodríguez Cruz PM, Camacho A, Jiménez E, Miranda-Herrero MC, Santana-Artiles A, García-Campos O, Dominguez-Rubio R, Olivé M, Colomer J, Beeson D, Lochmüller H, Nascimento A.

Neuromuscul Disord. 2017 Dec;27(12):1087-1098. doi: 10.1016/j.nmd.2017.08.003. Epub 2017 Aug 18.

PMID:
29054425
37.

MRI in sarcoglycanopathies: a large international cohort study.

Tasca G, Monforte M, Díaz-Manera J, Brisca G, Semplicini C, D'Amico A, Fattori F, Pichiecchio A, Berardinelli A, Maggi L, Maccagnano E, Løkken N, Marini-Bettolo C, Munell F, Sanchez A, Alshaikh N, Voermans NC, Dastgir J, Vlodavets D, Haberlová J, Magnano G, Walter MC, Quijano-Roy S, Carlier RY, van Engelen BGM, Vissing J, Straub V, Bönnemann CG, Mercuri E, Muntoni F, Pegoraro E, Bertini E, Udd B, Ricci E, Bruno C.

J Neurol Neurosurg Psychiatry. 2018 Jan;89(1):72-77. doi: 10.1136/jnnp-2017-316736. Epub 2017 Sep 9.

PMID:
28889091
38.

Differences in Adipose Tissue and Lean Mass Distribution in Patients with Collagen VI Related Myopathies Are Associated with Disease Severity and Physical Ability.

Rodríguez MA, Del Rio Barquero LM, Ortez CI, Jou C, Vigo M, Medina J, Febrer A, Ramon-Krauel M, Diaz-Manera J, Olive M, González-Mera L, Nascimento A, Jimenez-Mallebrera C.

Front Aging Neurosci. 2017 Aug 8;9:268. doi: 10.3389/fnagi.2017.00268. eCollection 2017.

39.

Hypoxia triggers IFN-I production in muscle: Implications in dermatomyositis.

De Luna N, Suárez-Calvet X, Lleixà C, Diaz-Manera J, Olivé M, Illa I, Gallardo E.

Sci Rep. 2017 Aug 17;7(1):8595. doi: 10.1038/s41598-017-09309-8.

40.

RIG-I expression in perifascicular myofibers is a reliable biomarker of dermatomyositis.

Suárez-Calvet X, Gallardo E, Pinal-Fernandez I, De Luna N, Lleixà C, Díaz-Manera J, Rojas-García R, Castellví I, Martínez MA, Grau JM, Selva-O'Callaghan A, Illa I.

Arthritis Res Ther. 2017 Jul 24;19(1):174. doi: 10.1186/s13075-017-1383-0.

41.

Platelet-Derived Growth Factor BB Influences Muscle Regeneration in Duchenne Muscle Dystrophy.

Piñol-Jurado P, Gallardo E, de Luna N, Suárez-Calvet X, Sánchez-Riera C, Fernández-Simón E, Gomis C, Illa I, Díaz-Manera J.

Am J Pathol. 2017 Aug;187(8):1814-1827. doi: 10.1016/j.ajpath.2017.04.011. Epub 2017 Jun 12. Erratum in: Am J Pathol. 2018 Feb;188(2):539.

PMID:
28618254
42.

Erratum to: Muscle MRI in neutral lipid storage disease (NLSD).

Garibaldi M, Tasca G, Diaz-Manera J, Ottaviani P, Laschena F, Pantoli D, Gerevini S, Fiorillo C, Maggi L, Tasca E, D'Amico A, Musumeci O, Toscano A, Bruno C, Massa R, Angelini C, Bertini E, Antonini G, Pennisi EM.

J Neurol. 2017 Jul;264(7):1343-1344. doi: 10.1007/s00415-017-8528-6. No abstract available.

43.

Muscle MRI in neutral lipid storage disease (NLSD).

Garibaldi M, Tasca G, Diaz-Manera J, Ottaviani P, Laschena F, Pantoli D, Gerevini S, Fiorillo C, Maggi L, Tasca E, D'Amico A, Musumeci O, Toscano A, Bruno C, Massa R, Angelini C, Bertini E, Antonini G, Pennisi EM.

J Neurol. 2017 Jul;264(7):1334-1342. doi: 10.1007/s00415-017-8498-8. Epub 2017 May 13. Erratum in: J Neurol. 2017 Jun 12;:.

44.

Early diagnosis of amyotrophic lateral sclerosis mimic syndromes: pros and cons of current clinical diagnostic criteria.

Cortés-Vicente E, Pradas J, Marín-Lahoz J, De Luna N, Clarimón J, Turon-Sans J, Gelpí E, Díaz-Manera J, Illa I, Rojas-Garcia R.

Amyotroph Lateral Scler Frontotemporal Degener. 2017 Aug;18(5-6):333-340. doi: 10.1080/21678421.2017.1316408. Epub 2017 Apr 25.

PMID:
28440098
45.

Bethlem Myopathy Phenotypes and Follow Up: Description of 8 Patients at the Mildest End of the Spectrum.

Cruz S, Figueroa-Bonaparte S, Gallardo E, de Becdelièvre A, Gartioux C, Allamand V, Piñol P, Garcia MA, Jiménez-Mallebriera C, Llauger J, González-Rodríguez L, Cortes-Vicente E, Illa I, Díaz-Manera J.

J Neuromuscul Dis. 2016 May 27;3(2):267-274.

PMID:
27854213
46.

Muscle MRI Findings in Childhood/Adult Onset Pompe Disease Correlate with Muscle Function.

Figueroa-Bonaparte S, Segovia S, Llauger J, Belmonte I, Pedrosa I, Alejaldre A, Mayos M, Suárez-Cuartín G, Gallardo E, Illa I, Díaz-Manera J; Spanish Pompe Study Group.

PLoS One. 2016 Oct 6;11(10):e0163493. doi: 10.1371/journal.pone.0163493. eCollection 2016.

47.

The Clinical Outcome Study for dysferlinopathy: An international multicenter study.

Harris E, Bladen CL, Mayhew A, James M, Bettinson K, Moore U, Smith FE, Rufibach L, Cnaan A, Bharucha-Goebel DX, Blamire AM, Bravver E, Carlier PG, Day JW, Díaz-Manera J, Eagle M, Grieben U, Harms M, Jones KJ, Lochmüller H, Mendell JR, Mori-Yoshimura M, Paradas C, Pegoraro E, Pestronk A, Salort-Campana E, Schreiber-Katz O, Semplicini C, Spuler S, Stojkovic T, Straub V, Takeda S, Rocha CT, Walter MC, Bushby K; Jain COS Consortium.

Neurol Genet. 2016 Aug 4;2(4):e89. doi: 10.1212/NXG.0000000000000089. eCollection 2016 Aug.

48.

Clinical Characteristics of Patients With Double-Seronegative Myasthenia Gravis and Antibodies to Cortactin.

Cortés-Vicente E, Gallardo E, Martínez MÁ, Díaz-Manera J, Querol L, Rojas-García R, Illa I.

JAMA Neurol. 2016 Sep 1;73(9):1099-104. doi: 10.1001/jamaneurol.2016.2032.

PMID:
27379450
49.

Teaching Video NeuroImages: The Beevor sign in late-onset Pompe disease.

Garibaldi M, Diaz-Manera J, Gallardo E, Antonini G.

Neurology. 2016 Jun 14;86(24):e250-1. doi: 10.1212/WNL.0000000000002772. No abstract available.

PMID:
27298456
50.

Muscle MRI in muscular dystrophies.

Díaz-Manera J, Llauger J, Gallardo E, Illa I.

Acta Myol. 2015 Dec;34(2-3):95-108.

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