Volume 2; Issue s1

Journal of Neuromuscular Diseases

Volume 2; Issue s1

1

8 Years of Experience with Alglucosidase Alpha Treatment: Facts and Perspectives

Toscano, Antonio, Montagnese, Federica, Mondello, Stefania, Musumeci, Olimpia

Journal:

Journal of Neuromuscular Diseases

Year:

2015

Language:

english

File:

PDF, 85 KB

english, 2015

2

Effects of Aerobic Exercise Training in Late-Onset Pompe Disease Before and 1 Month after Enzyme Replacement Therapy

Silva, RosÃ¢ngela M., Mendes, Carmen S.C., Aranda, Carolina C., Curiati, Marco A., Rand, Maret H., Kyosen, Sandra O., Sakata, Edna T., Canossa, Sueli, Frangipani, Beatriz J., Martins, Ana M.

Journal:

Journal of Neuromuscular Diseases

Year:

2015

File:

PDF, 124 KB

2015

3

Effects of Exercise Training on Functional Capacity and Quality of Life in a Patient with Late-Onset Pompe Disease Receiving Enzyme Replacement Therapy

Silva, RosÃ¢ngela M., Mendes, Carmen S.C., Aranda, Carolina C., Curiati, Marco A., Rand, Maret H., Kyosen, Sandra O., Sakata, Edna T., Canossa, Sueli, Oliveira, Renata B., Martins, Ana M.

Journal:

Journal of Neuromuscular Diseases

Year:

2015

File:

PDF, 112 KB

2015

4

Lentiviral Stem Cell Gene Therapy for Pompe Disease

Liang, Qiushi, Stok, Merel, van Helsdingen, Yvette, van der Velden, Guus, Jacobs, Ed, Duncker, Dirk, Reuser, Arnold, van der Ploeg, Ans, Vulto, Arnold, van Til, Niek P., Wagemaker, Gerard

Journal:

Journal of Neuromuscular Diseases

Year:

2015

File:

PDF, 182 KB

2015

5

A Unique Myopathy Syndrome in a Patient Disclosing Clinical, Laboratory, and Genetic Findings of Late-Onset Pompe Disease, Together with a Lack of Dysferlin on Muscle Biopsy

Sampaolo, Simone, Lombardi, Luca, Pascarella, Angelo, Picillo, Esther, Farina, Olimpia, Esposito, Teresa, Politano, Luisa, Di Iorio, Giuseppe

Journal:

Journal of Neuromuscular Diseases

Year:

2015

File:

PDF, 155 KB

2015

6

Long-Term Interruption of Enzyme Replacement Therapy with rhGAA in Pompe Disease Leads to Irreversible Clinical Decline

Hundsberger, Thomas, RÃ¶sler, Kai M., Findling, Oliver

Journal:

Journal of Neuromuscular Diseases

Year:

2015

File:

PDF, 118 KB

2015

7

Clinical and Treatment Management Decisions in Two Asymptomatic Late-Onset Pompe Disease Siblings â Further Evidence of Scoliosis as a Clinical Sentinel Sign for Juvenile Pompe Disease

Llerena Jr, Juan C., Esposito, Ana Carolina, Barth, Anneliese, Souza e Silva, Daniel, Cavalcanti, Nicollete, Sixel, Bruna, MagalhÃ£es, Tatiana, Scalco, Fernanda, Oliveira, Maria LÃºcia, Riello, Anna P

Journal:

Journal of Neuromuscular Diseases

Year:

2015

File:

PDF, 144 KB

2015

8

Quality of Life and Participation in the Daily Life (Activities) of Adults with Pompe Disease Receiving Enzyme Replacement Therapy: 10 Years of International Follow-Up

GÃ¼ngÃ¶r, D., Kruijshaar, M.E., Plug, I., Rizopoulos, D., Kanters, T.A., Wens, S.C.A, Reuser, A.J.J, van Doorn, P.A., van der Ploeg, A.T.

Journal:

Journal of Neuromuscular Diseases

Year:

2015

File:

PDF, 130 KB

2015

9

Motor Development in Infantile Pompe Disease

GÃ¶kce, S., Karabul, N., Hennermann, J.B., Mengel, E.

Journal:

Journal of Neuromuscular Diseases

Year:

2015

File:

PDF, 112 KB

2015

10

Intracranial Arterial Abnormalities in Patients with Late-Onset Pompe Disease

Montagnese, F., Granata, F., Musumeci, O., Ciranni, A., Rodolico, C., Longo, M., Toscano, A.

Journal:

Journal of Neuromuscular Diseases

Year:

2015

File:

PDF, 118 KB

2015

11

Ten Years of the International Pompe Survey: Patient-Reported Outcomes as a Reliable Tool for Studying Treated and Untreated Children and Adults with Non-Classic Pompe Disease

van der Meijden, J.C., GÃ¼ngÃ¶r, D., Kruijshaar, M.E., Muir, A.D.J., Broekgaarden, H.A., van der Ploeg, A.T.

Journal:

Journal of Neuromuscular Diseases

Year:

2015

File:

PDF, 90 KB

2015

12

Late-Onset Pompe Disease: A Multisystemic Disorder

Journal:

Journal of Neuromuscular Diseases

Year:

2015

File:

PDF, 105 KB

2015

13

Early Recognition of Late-Onset Pompe Disease by Skeletal Muscle Signs and Symptoms

Mongini, Tiziana, Vercelli, Liliana, Ponzalino, Valentina, Bortolani, Sara

Journal:

Journal of Neuromuscular Diseases

Year:

2015

File:

PDF, 84 KB

2015

14

Emerging Role of Muscle Imaging in Diagnosis and Evaluation of Pompe Disease Patients

Carlier, Pierre G.

Journal:

Journal of Neuromuscular Diseases

Year:

2015

File:

PDF, 108 KB

2015

15

Best Standards of Care for Patients with Late-Onset Pompe Disease â A Canadian Perspective

Tarnopolsky, Mark

Journal:

Journal of Neuromuscular Diseases

Year:

2015

File:

PDF, 84 KB

2015

16

Immunological Factors in Pompe Disease Management: Clinical Experience and Implications for Newborn Screening

Kishnani, Priya S., Kazi, Zoheb B., Berrier, Kathryn L., Dearmey, Stephanie M., Bali, Deeksha S., Rosenberg, Amy S.

Journal:

Journal of Neuromuscular Diseases

Year:

2015

File:

PDF, 118 KB

2015

17

New Pathogenetic Mechanisms that Link Autophagy to Pompe Disease

Nascimbeni, Anna Chiara, Fanin, Marina, Angelini, Corrado, Sandri, Marco

Journal:

Journal of Neuromuscular Diseases

Year:

2015

File:

PDF, 118 KB

2015

18

Newborn Screening: Are We Ready for It?

la Marca, Giancarlo

Journal:

Journal of Neuromuscular Diseases

Year:

2015

File:

PDF, 113 KB

2015

19

Gene Therapy: Strategies to Treat Motor Unit Dysfunction

Journal:

Journal of Neuromuscular Diseases

Year:

2015

File:

PDF, 107 KB

2015

20

Pompe Disease and Normal Whole-Body Magnetic Resonance Imaging

Alves, Pedro, Sequeira, SÃlvia

Journal:

Journal of Neuromuscular Diseases

Year:

2015

File:

PDF, 118 KB

2015

21

Prevalence of Asymptomatic Vertebral Fractures in Late-Onset Pompe Disease

Bertoldo, Francesco, Zappini, Francesca, Brigo, Martina, Moggio, Maurizio, Lucchini, Valeria, Angelini, Corrado, Semplicini, Claudio, Filosto, Massimiliano, Ravaglia, Sabrina, Cotelli, Sofia, Todeschi

Journal:

Journal of Neuromuscular Diseases

Year:

2015

File:

PDF, 118 KB

2015

22

A Case of Early Infantile Pompe Disease with Atypical Manifestation

de Souza, Carolina F.M., Donnis, Karina, Vairo, Filippo, Burim, Maira, Fagondes, Simone, Giugliani, Roberto

Journal:

Journal of Neuromuscular Diseases

Year:

2015

File:

PDF, 123 KB

2015

23

Pompe Disease: A Case Presentation

Hancu, A., Butoianu, N., Rosioru, R.

Journal:

Journal of Neuromuscular Diseases

Year:

2015

File:

PDF, 102 KB

2015

24

Motor Function and Respiratory Capacity in Patients with Late-Onset Pompe Disease

Illes, Zsolt, Mike, Andrea, Trauninger, Anita, VÃ¡rdi, Katalin, VÃ¡czi, MÃ¡rk

Journal:

Journal of Neuromuscular Diseases

Year:

2015

File:

PDF, 117 KB

2015

25

The Pompe Registry: 10 Years of Data

Kishnania, Priya, Chien, Yin-Hsiu, Llerena, Juan, Kempf, Judy, Devecseri, Zsuzsanna, van der Ploeg, Ans

Journal:

Journal of Neuromuscular Diseases

Year:

2015

File:

PDF, 155 KB

2015

26

Infantile Pompe Disease: Atypical Variant

Rodrigues, ThaÃs, Marrone, Carlo D.

Journal:

Journal of Neuromuscular Diseases

Year:

2015

File:

PDF, 118 KB

2015

27

Laboratory and Clinical Findings Imitating Myotonic Dystrophy in the Patient with Late-Onset Pompe Disease

Urminska, I., Mattosova, S., Meciarova, I., Chandoga, J., Spalek, P.

Journal:

Journal of Neuromuscular Diseases

Year:

2015

File:

PDF, 129 KB

2015

28

Identification and Characterization of Aberrant Splicing in Pompe Disease Using a Generic Approach

Bergsma, Atze J., Kroos, Marian, Hoogeveen-Westerveld, Marianne, Halley, Dicky, van der Ploeg, Ans T., Pim Pijnappel, W.W.M.

Journal:

Journal of Neuromuscular Diseases

Year:

2015

File:

PDF, 118 KB

2015

29

Broad Spectrum of c.2015 G>A Mutation in the GAA Gene Manifesting as a Mild Infantile Variant of Pompe Disease in Jordanian Patients

Fattal-Valevski, Aviva, Sagi, Liora, Kuzminsky, Ala, Bali, Deeksha

Journal:

Journal of Neuromuscular Diseases

Year:

2015

File:

PDF, 118 KB

2015

30

Energy Status in Skeletal Muscle in a Mouse Model of Pompe Disease

Herrera, Jose L., Salido, Eduardo, GÃ³mez, Jose F., Alonso, Rafael, GarcÃa-Rocha, Mar, Duran, Jordi, Guinovart, Joan J., Morales, Araceli

Journal:

Journal of Neuromuscular Diseases

Year:

2015

File:

PDF, 145 KB

2015

31

Identification and Quantification of the Biomarker Glucose Tetrasaccharide Glc4 by Thin Layer Chromatography and High Performance Liquid Chromatography in Pompe Disease Patients

Llerena Jr, Juan C., Esposito, Ana Carolina, Barth, Anneliese, Scalco, Fernanda, Oliveira, Maria LÃºcia, Horotvitz, Dafne

Journal:

Journal of Neuromuscular Diseases

Year:

2015

File:

PDF, 126 KB

2015

32

Breathing Pattern and Central Ventilatory Drive in Late-Onset Pompe Disease

Musumeci, Olimpia, Ruggeri, Paolo, Montagnese, Federica, Girbino, Giuseppe, Toscano, Antonio

Journal:

Journal of Neuromuscular Diseases

Year:

2015

File:

PDF, 153 KB

2015

33

Dynamic Change in Muscle Volume after Exercise is Altered in Pompe Disease: A Quantitative, Sequential MRI Study

Nagy, Szilvia A., VÃ¡czi, MÃ¡rk, PÃ¡l, JÃ³zsef, Trauninger, Anita, Perlaki, GÃ¡bor, Bogner, PÃ©ter, Illes, Zsolt

Journal:

Journal of Neuromuscular Diseases

Year:

2015

File:

PDF, 142 KB

2015

34

A Case of Late-Onset Pompe Disease Occurring with a Muscle Weakness Pattern Similar to that of Facioscapulohumeral Muscular Dystrophy

Ruggiero, Lucia, Manganelli, Fiore, Vitale, Floriana, Iodice, Rosa, Pisciotta, Chiara, Dubbioso, Raffaele, Topa, Antonietta, Santoro, Lucio

Journal:

Journal of Neuromuscular Diseases

Year:

2015

File:

PDF, 112 KB

2015

35

Alpha Glucosidase Assay on Dried Blood Spot in the Early Diagnosis of Infantile Pompe Disease

Sacchini, M., Procopio, E., Pasquini, E., Pochiero, F., Ombrone, D., LaMarca, G., Catarzi, S., Morrone, A., Donati, M.A.

Journal:

Journal of Neuromuscular Diseases

Year:

2015

File:

PDF, 132 KB

2015

36

Frequency of Cerebrovascular Abnormalities in Patients with Late-Onset Pompe Disease: Our Experience

Sancricca, C., Primiano, G., Bernardo, D., Sauchelli, D., Cuccagna, C., Servidei, S.

Journal:

Journal of Neuromuscular Diseases

Year:

2015

File:

PDF, 391 KB

2015

37

Infantile-Onset Pompe Disease: The Care Beyond the Cure

Astrea, Guja, Perazza, Silvia, Frosini, Silvia, Moretti, Elena, Sacchini, Michele, Dati, Eleonora, Pecini, Chiara, Procopio, Elena, Santorelli, Filippo M., Donati, Maria A., Battini, Roberta

Journal:

Journal of Neuromuscular Diseases

Year:

2015

File:

PDF, 3.01 MB

2015

38

A 4-Year Observational Clinical Study of 24 Adult Pompe Disease Patients under Alglucosidase Alfa Enzyme Replacement Therapy

Stepien, Karolina M., Whitby, Jane, Roberts, Mark, Sharma, Reena

Journal:

Journal of Neuromuscular Diseases

Year:

2015

File:

PDF, 135 KB

2015

39

Long-Term Follow-Up of Two Siblings with a Non-Classic Infantile Variant Form of Pompe Disease

Taurisano, R., D'Amico, A., Colafati, G.S., Pichiecchio, A., Catteruccia, M., Bertini, E., Dionisi-Vici, C., Deodato, F.

Journal:

Journal of Neuromuscular Diseases

Year:

2015

File:

PDF, 270 KB

2015

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