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Journal of Neuromuscular Diseases - Volume 2, issue s1

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Price: EUR 125.00

ISSN 2214-3599 (P)

ISSN 2214-3602 (E)

Impact Factor 2024: 3.2

The Journal of Neuromuscular Diseases aims to facilitate progress in understanding the molecular genetics/correlates, pathogenesis, pharmacology, diagnosis and treatment of acquired and genetic neuromuscular diseases (including muscular dystrophy, myasthenia gravis, spinal muscular atrophy, neuropathies, myopathies, myotonias and myositis).

The journal publishes research reports, reviews, short communications, and letters-to-the-editor and will consider research that has negative findings. The journal is dedicated to providing an open forum for original research in basic science, translational and clinical research that will improve our fundamental understanding and lead to effective treatments of neuromuscular diseases.

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Abstracts from the 7 ^th European Symposium on Steps Forward in Pompe Disease: Turin, Italy, November 21–22, 2014

Article Type: Other

Abstract: Abstracts from the 7th European Symposium on Steps Forward in Pompe Disease Turin, Italy, November 21–22, 2014 Meeting chaired by: Professor Tiziana Mongini (University of Torino, Italy) and Professor Antonio Toscano (University of Messina, Italy)

Citation: Journal of Neuromuscular Diseases, vol. 2, no. s1, pp. i-i, 2015

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Late-Onset Pompe Disease: A Multisystemic Disorder

Authors: Roberts, Mark

Article Type: Research Article

DOI: 10.3233/JND-159001

Citation: Journal of Neuromuscular Diseases, vol. 2, no. s1, pp. S1-S1, 2015

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

Authors: Mongini, Tiziana | Vercelli, Liliana | Ponzalino, Valentina | Bortolani, Sara

Article Type: Research Article

DOI: 10.3233/JND-159002

Citation: Journal of Neuromuscular Diseases, vol. 2, no. s1, pp. S2-S2, 2015

Early Recognition of Pompe Disease by Respiratory Muscle Signs and Symptoms

Authors: Young, P. | Boentert, M.

Article Type: Research Article

DOI: 10.3233/JND-159003

Citation: Journal of Neuromuscular Diseases, vol. 2, no. s1, pp. S3-S3, 2015

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

Authors: Toscano, Antonio | Montagnese, Federica | Mondello, Stefania | Musumeci, Olimpia

Article Type: Research Article

DOI: 10.3233/JND-159004

Citation: Journal of Neuromuscular Diseases, vol. 2, no. s1, pp. S4-S4, 2015

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

Authors: Carlier, Pierre G.

Article Type: Research Article

DOI: 10.3233/JND-159005

Citation: Journal of Neuromuscular Diseases, vol. 2, no. s1, pp. S5-S5, 2015

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

Authors: Tarnopolsky, Mark

Article Type: Research Article

DOI: 10.3233/JND-159006

Citation: Journal of Neuromuscular Diseases, vol. 2, no. s1, pp. S6-S6, 2015

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

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

Article Type: Research Article

DOI: 10.3233/JND-159007

Citation: Journal of Neuromuscular Diseases, vol. 2, no. s1, pp. S7-S7, 2015

A Troublesome Debate: When to Start Treatment in Adult Pompe Patients?

Authors: Schoser, Benedikt

Article Type: Research Article

DOI: 10.3233/JND-159008

Citation: Journal of Neuromuscular Diseases, vol. 2, no. s1, pp. S8-S8, 2015

New Pathogenetic Mechanisms that Link Autophagy to Pompe Disease

Authors: Nascimbeni, Anna Chiara | Fanin, Marina | Angelini, Corrado | Sandri, Marco

Article Type: Research Article

DOI: 10.3233/JND-159009

Citation: Journal of Neuromuscular Diseases, vol. 2, no. s1, pp. S9-S9, 2015

Foreword

Authors: Mongini, Tiziana | Toscano, Antonio | Chairs of the 7th European Symposium on Steps Forward in Pompe Disease

Article Type: Research Article

DOI: 10.3233/JND-159000

Citation: Journal of Neuromuscular Diseases, vol. 2, no. s1, pp. Si-Sii, 2015

Newborn Screening: Are We Ready for It?

Authors: la Marca, Giancarlo

Article Type: Research Article

DOI: 10.3233/JND-159010

Citation: Journal of Neuromuscular Diseases, vol. 2, no. s1, pp. S10-S10, 2015

Gene Therapy: Strategies to Treat Motor Unit Dysfunction

Authors: Byrne, B.

Article Type: Research Article

DOI: 10.3233/JND-159011

Citation: Journal of Neuromuscular Diseases, vol. 2, no. s1, pp. S11-S11, 2015

Pompe Disease and Normal Whole-Body Magnetic Resonance Imaging

Authors: Alves, Pedro | Sequeira, Sílvia

Article Type: Research Article

DOI: 10.3233/JND-159012

Citation: Journal of Neuromuscular Diseases, vol. 2, no. s1, pp. S12-S12, 2015

Prevalence of Asymptomatic Vertebral Fractures in Late-Onset Pompe Disease

Authors: Bertoldo, Francesco | Zappini, Francesca | Brigo, Martina | Moggio, Maurizio | Lucchini, Valeria | Angelini, Corrado | Semplicini, Claudio | Filosto, Massimiliano | Ravaglia, Sabrina | Cotelli, Sofia | Todeschini, Alice | Scarpelli, Mauro | Pancheri, Serena | Tonin, Paola

Article Type: Research Article

DOI: 10.3233/JND-159013

Citation: Journal of Neuromuscular Diseases, vol. 2, no. s1, pp. S13-S13, 2015

A Case of Normal Pressure Hydrocephalus in Adult-Onset Pompe Disease

Authors: D'Amico, Maria C. | Di Tommaso, Valeria | Di Giacomo, Roberta | Di Muzio, Antonio | Onofrj, Marco

Article Type: Research Article

DOI: 10.3233/JND-159014

Citation: Journal of Neuromuscular Diseases, vol. 2, no. s1, pp. S14-S14, 2015

A Case of Early Infantile Pompe Disease with Atypical Manifestation

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

Article Type: Research Article

DOI: 10.3233/JND-159015

Citation: Journal of Neuromuscular Diseases, vol. 2, no. s1, pp. S15-S15, 2015

Role of Respiratory Rehabilitation in Pompe Disease: A Case Report

Authors: Fernández, Cecilia Garrino | Rosso, Raúl Espinosa

Article Type: Research Article

DOI: 10.3233/JND-159016

Citation: Journal of Neuromuscular Diseases, vol. 2, no. s1, pp. S16-S17, 2015

Motor Development in Infantile Pompe Disease

Authors: Gökce, S. | Karabul, N. | Hennermann, J.B. | Mengel, E.

Article Type: Research Article

DOI: 10.3233/JND-159017

Citation: Journal of Neuromuscular Diseases, vol. 2, no. s1, pp. S18-S18, 2015

Pompe Disease: A Case Presentation

Authors: Hancu, A. | Butoianu, N. | Rosioru, R.

Article Type: Research Article

DOI: 10.3233/JND-159018

Citation: Journal of Neuromuscular Diseases, vol. 2, no. s1, pp. S19-S19, 2015

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

Authors: Hundsberger, Thomas | Rösler, Kai M. | Findling, Oliver

Article Type: Research Article

DOI: 10.3233/JND-159019

Citation: Journal of Neuromuscular Diseases, vol. 2, no. s1, pp. S20-S20, 2015

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

Authors: Illes, Zsolt | Mike, Andrea | Trauninger, Anita | Várdi, Katalin | Váczi, Márk

Article Type: Research Article

DOI: 10.3233/JND-159020

Citation: Journal of Neuromuscular Diseases, vol. 2, no. s1, pp. S21-S21, 2015

The Pompe Registry: 10 Years of Data

Authors: Kishnania, Priya | Chien, Yin-Hsiu | Llerena, Juan | Kempf, Judy | Devecseri, Zsuzsanna | van der Ploeg, Ans | on behalf of the Pompe Registry Board of Advisors

Article Type: Research Article

DOI: 10.3233/JND-159021

Citation: Journal of Neuromuscular Diseases, vol. 2, no. s1, pp. S22-S23, 2015

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

Authors: Llerena Jr, Juan C. | Esposito, Ana Carolina | Barth, Anneliese | Souza e Silva, Daniel | Cavalcanti, Nicollete | Sixel, Bruna | Magalhães, Tatiana | Scalco, Fernanda | Oliveira, Maria Lúcia | Riello, Anna Patrícia | Horotvitz, Dafne

Article Type: Research Article

DOI: 10.3233/JND-159022

Citation: Journal of Neuromuscular Diseases, vol. 2, no. s1, pp. S24-S24, 2015

Late-Onset Pompe Disease (Juvenile-Onset Form) with Elevated CK, Fatigue, and Muscular Pain After Exercise, Without Weakness

Authors: Marrone, Carlo Domenico | Rodrigues, Thaís

Article Type: Research Article

DOI: 10.3233/JND-159023

Citation: Journal of Neuromuscular Diseases, vol. 2, no. s1, pp. S25-S25, 2015

First Case of Late-Onset Glycogen Storage Disease Type II in Russia with a Novel Mutation

Authors: Nikitin, S.S. | Kovalchuk, M.O. | Proskurina, E.A. | Khoroshaya, I.V.

Article Type: Research Article

DOI: 10.3233/JND-159024

Citation: Journal of Neuromuscular Diseases, vol. 2, no. s1, pp. S26-S26, 2015

Enzymatic Replacement Therapy in Patients with Late-Onset Pompe Disease – 5-Year Follow Up

Authors: Restel, Magdalena | Bochyńska, Anna | Chahwan, Maroun | Grotkowska, Anna | Rola, Rafał | Witkowski, Grzegorz | Ryglewicz, Danuta

Article Type: Research Article

DOI: 10.3233/JND-159025

Citation: Journal of Neuromuscular Diseases, vol. 2, no. s1, pp. S27-S27, 2015

Infantile Pompe Disease: Atypical Variant

Authors: Rodrigues, Thaís | Marrone, Carlo D.

Article Type: Research Article

DOI: 10.3233/JND-159026

Citation: Journal of Neuromuscular Diseases, vol. 2, no. s1, pp. S28-S28, 2015

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

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

Article Type: Research Article

DOI: 10.3233/JND-159027

Citation: Journal of Neuromuscular Diseases, vol. 2, no. s1, pp. S29-S30, 2015

A Comparison of Gait Patterns between Late-Onset Pompe Disease and Age-Matched Healthy Individuals: Does Late-Onset Pompe Disease have a Typical Gait Pattern?

Authors: Silk, Edward | Jones, Richard K. | Hendriksz, Christian | Sharma, Reena | Jovanovic, Ana | Wilcox, Gisela | Baker, Richard J.

Article Type: Research Article

DOI: 10.3233/JND-159028

Citation: Journal of Neuromuscular Diseases, vol. 2, no. s1, pp. S31-S31, 2015

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

Authors: Silva, Rosângela 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.

Article Type: Research Article

DOI: 10.3233/JND-159029

Citation: Journal of Neuromuscular Diseases, vol. 2, no. s1, pp. S32-S32, 2015

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

Authors: Silva, Rosângela 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.

Article Type: Research Article

DOI: 10.3233/JND-159030

Citation: Journal of Neuromuscular Diseases, vol. 2, no. s1, pp. S33-S33, 2015

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

Authors: Urminska, I. | Mattosova, S. | Meciarova, I. | Chandoga, J. | Spalek, P.

Article Type: Research Article

DOI: 10.3233/JND-159031

Citation: Journal of Neuromuscular Diseases, vol. 2, no. s1, pp. S34-S34, 2015

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

Authors: van der Meijden, J.C. | Güngör, D. | Kruijshaar, M.E. | Muir, A.D.J. | Broekgaarden, H.A. | van der Ploeg, A.T.

Article Type: Research Article

DOI: 10.3233/JND-159032

Citation: Journal of Neuromuscular Diseases, vol. 2, no. s1, pp. S35-S35, 2015

Changing Characteristics of Late-Onset Pompe Disease Patients in Italy: Data from the Pompe Registry

Authors: Angelini, Corrado | Bembi, Bruno | Burlina, Alberto | Filosto, Massimiliano | Maioli, Maria A. | Morandi, Lucia O. | Parini, Rossella | Pegoraro, Elena | Ravaglia, Sabrina | Servidei, Serenella | Toscano, Antonio | Tugnoli, Valeria | on behalf of the Italian Pompe Registry Centers

Article Type: Research Article

DOI: 10.3233/JND-159033

Citation: Journal of Neuromuscular Diseases, vol. 2, no. s1, pp. S36-S37, 2015

Epidemiology and Screening for Pompe Disease in Sweden

Authors: Balcin, Hasan | Lindberg, Christopher | Lindvall, Björn | Sundström, Anders | Andersson, Blanka | Hult, Malin | Engvall, Martin | Solders, Göran

Article Type: Research Article

DOI: 10.3233/JND-159034

Citation: Journal of Neuromuscular Diseases, vol. 2, no. s1, pp. S38-S38, 2015

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

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

Article Type: Research Article

DOI: 10.3233/JND-159035

Citation: Journal of Neuromuscular Diseases, vol. 2, no. s1, pp. S39-S39, 2015

Establishment of a Screening Test for Rapid and Early Diagnosis of Pompe Disease using Tandem Mass Spectrometry (Lc-Ms/Ms): Israel Experience

Authors: Dumin, Elena | Faour, Zamzam | Knopf, Carlos | Spiegel, Ronen | Elisha, Mordechai Ben | Kaplan, Marielle | Mandel, Hanna

Article Type: Research Article

DOI: 10.3233/JND-159036

Citation: Journal of Neuromuscular Diseases, vol. 2, no. s1, pp. S40-S40, 2015

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

Authors: Fattal-Valevski, Aviva | Sagi, Liora | Kuzminsky, Ala | Bali, Deeksha

Article Type: Research Article

DOI: 10.3233/JND-159037

Citation: Journal of Neuromuscular Diseases, vol. 2, no. s1, pp. S41-S41, 2015

Dried Blood Spot for Screening for Late-Onset Pompe Disease: A Spanish Cohort

Authors: Gutiérrez-Rivas, E. | Bautista, J. | Vílchez, J.J. | Muelas, N. | Díaz-Manera, J. | Illa, I. | Martínez-Arroyo, A. | Olivé, M. | Sanz, I. | Arpa, J. | Fernández-Torrón, R. | López de Munáin, A. | Jiménez, L. | Solera, J. | Lukacs, Z.

Article Type: Research Article

DOI: 10.3233/JND-159038

Citation: Journal of Neuromuscular Diseases, vol. 2, no. s1, pp. S42-S42, 2015

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

Authors: Herrera, Jose L. | Salido, Eduardo | Gómez, Jose F. | Alonso, Rafael | García-Rocha, Mar | Duran, Jordi | Guinovart, Joan J. | Morales, Araceli

Article Type: Research Article

DOI: 10.3233/JND-159039

Citation: Journal of Neuromuscular Diseases, vol. 2, no. s1, pp. S43-S43, 2015

Screening for Pompe Disease in Specific At-Risk Populations with Sleep-Disordered Breathing

Authors: Kaminska, M. | Noel, F. | Genge, A. | Melancon, S.B. | Pshezhetsky, A. | Petrof, B.J.

Article Type: Research Article

DOI: 10.3233/JND-159040

Citation: Journal of Neuromuscular Diseases, vol. 2, no. s1, pp. S44-S44, 2015

The Search for Pompe Patients in Canada: Assessing Feasibility of a National Disease Registry to Facilitate Research

Authors: Korngut, Lawrence | Johnston, Megan | Campbell, Craig | Genge, Angela | MacKenzie, Alex | McCormick, Anna | Venance, Shannon

Article Type: Research Article

DOI: 10.3233/JND-159041

Citation: Journal of Neuromuscular Diseases, vol. 2, no. s1, pp. S45-S46, 2015

Identification and Quantification of the Biomarker Glucose Tetrasaccharide Glc ₄ by Thin Layer Chromatography and High Performance Liquid Chromatography in Pompe Disease Patients

Authors: Llerena Jr, Juan C. | Esposito, Ana Carolina | Barth, Anneliese | Scalco, Fernanda | Oliveira, Maria Lúcia | Horotvitz, Dafne

Article Type: Research Article

DOI: 10.3233/JND-159042

Citation: Journal of Neuromuscular Diseases, vol. 2, no. s1, pp. S47-S47, 2015

Intracranial Arterial Abnormalities in Patients with Late-Onset Pompe Disease

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

Article Type: Research Article

DOI: 10.3233/JND-159043

Citation: Journal of Neuromuscular Diseases, vol. 2, no. s1, pp. S48-S48, 2015

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

Authors: Musumeci, Olimpia | Ruggeri, Paolo | Montagnese, Federica | Girbino, Giuseppe | Toscano, Antonio

Article Type: Research Article

DOI: 10.3233/JND-159044

Citation: Journal of Neuromuscular Diseases, vol. 2, no. s1, pp. S49-S49, 2015

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

Authors: Nagy, Szilvia A. | Váczi, Márk | Pál, József | Trauninger, Anita | Perlaki, Gábor | Bogner, Péter | Illes, Zsolt

Article Type: Research Article

DOI: 10.3233/JND-159045

Citation: Journal of Neuromuscular Diseases, vol. 2, no. s1, pp. S50-S51, 2015

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

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

Article Type: Research Article

DOI: 10.3233/JND-159046

Citation: Journal of Neuromuscular Diseases, vol. 2, no. s1, pp. S52-S52, 2015

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

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

Article Type: Research Article

DOI: 10.3233/JND-159047

Citation: Journal of Neuromuscular Diseases, vol. 2, no. s1, pp. S53-S53, 2015

Symptomatic Heterozygosity due to Definite GAA Mutations in Late-Onset Pompe Disease

Authors: Sampaolo, Simone | Farina, Olimpia | Cipullo, Federica | Napolitano, Filomena | Esposito, Teresa | Lombardi, Luca | Di Iorio, Giuseppe

Article Type: Research Article

DOI: 10.3233/JND-159048

Citation: Journal of Neuromuscular Diseases, vol. 2, no. s1, pp. S54-S54, 2015

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

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

Article Type: Research Article

DOI: 10.3233/JND-159049

Citation: Journal of Neuromuscular Diseases, vol. 2, no. s1, pp. S55-S56, 2015

Cine-MRI as a New Tool to Evaluate Diaphragmatic Dysfunction in Pompe Disease

Authors: Wens, Stephan C. | Ciet, Pierluigi | Perez-Rovira, Adria | Logie, Karla | Salamon, Elizabeth | Wielopolski, Piotr | de Bruijne, Marleen | Kruijshaar, Michelle E. | Tiddens, Harm W. | van der Beek, Nadine A.M.E. | van Doorn, Pieter A. | van der Ploeg, Ans T.

Article Type: Research Article

DOI: 10.3233/JND-159050

Citation: Journal of Neuromuscular Diseases, vol. 2, no. s1, pp. S57-S57, 2015

Infantile-Onset Pompe Disease: The Care Beyond the Cure

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

Article Type: Research Article

DOI: 10.3233/JND-159051

Citation: Journal of Neuromuscular Diseases, vol. 2, no. s1, pp. S58-S59, 2015

Two Cases of Danon Disease – A ‘Cousin’ of Pompe Disease

Authors: Basargina, E. | Polyakova, S. | Fiodorova, N. | Pushkov, A. | Savostianov, K.

Article Type: Research Article

DOI: 10.3233/JND-159052

Citation: Journal of Neuromuscular Diseases, vol. 2, no. s1, pp. S60-S60, 2015

Survival and Developmental Milestones Among Pompe Registry Patients with Classic Infantile-Onset Pompe Disease with Different Timing of Initiation of Treatment with Enzyme Replacement Therapy

Authors: Chien, Yin-Hsiu | van der Ploeg, Ans | Jones, Simon | Byrne, Barry | Vellodi, Ashok | Leslie, Nancy | Mengel, Eugen | Shankar, Suma P. | Tanpaiboon, Pranoot | Stockton, David W. | Hennermann, Julia B. | Devecseri, Zsuzsanna | Kempf, Judy | Keutzer, Joan | Kishnani, Priya

Article Type: Research Article

DOI: 10.3233/JND-159053

Citation: Journal of Neuromuscular Diseases, vol. 2, no. s1, pp. S61-S62, 2015

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

Authors: Güngör, 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.

Article Type: Research Article

DOI: 10.3233/JND-159054

Citation: Journal of Neuromuscular Diseases, vol. 2, no. s1, pp. S63-S63, 2015

Lentiviral Stem Cell Gene Therapy for Pompe Disease

Authors: 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

Article Type: Research Article

DOI: 10.3233/JND-159055

Citation: Journal of Neuromuscular Diseases, vol. 2, no. s1, pp. S64-S64, 2015

Long-Term Follow-Up of Pompe Patients in Israel and Gaza: Insights into Therapeutic Effects of Enzyme Replacement Therapy

Authors: Mandel, Hanna | Hershkovitz, Eli | Zecharia, Abraham | Lorber, Abraham | Bentur, Lea | Dumin, Elena

Article Type: Research Article

DOI: 10.3233/JND-159056

Citation: Journal of Neuromuscular Diseases, vol. 2, no. s1, pp. S65-S66, 2015

A National Pilot Study to Investigate the Effects of Sub-Maximal Aerobic Exercise in Adults with Late-Onset Pompe Disease

Authors: Murphy, Elaine | Lachmann, Robin | Roberts, Mark | Dando, Stephen J. | Silk, Edward | Henricksz, Christian

Article Type: Research Article

DOI: 10.3233/JND-159057

Citation: Journal of Neuromuscular Diseases, vol. 2, no. s1, pp. S67-S68, 2015

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

Authors: Stepien, Karolina M. | Whitby, Jane | Roberts, Mark | Sharma, Reena

Article Type: Research Article

DOI: 10.3233/JND-159058

Citation: Journal of Neuromuscular Diseases, vol. 2, no. s1, pp. S69-S69, 2015

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

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

Article Type: Research Article

DOI: 10.3233/JND-159059

Citation: Journal of Neuromuscular Diseases, vol. 2, no. s1, pp. S70-S71, 2015

A Phase 4 Prospective Study in Patients with Adult Pompe Disease Treated with Alglucosidase Alfa

Authors: Thurberg, Beth L. | Carlier, Pierre | Kissel, John T. | Schoser, Benedikt | Pestronk, Alan | Barohn, Richard J. | Goker-Alpan, Ozlem | Mozaffar, Tahseen | Pena, Loren D.M. | Simmons, Zachary | Straub, Volker | Young, Peter | Shafi, Raheel | Bjartmar, Carl | van der Ploeg, Ans

Article Type: Research Article

DOI: 10.3233/JND-159060

Citation: Journal of Neuromuscular Diseases, vol. 2, no. s1, pp. S72-S73, 2015

Author Index

Article Type: Other

Citation: Journal of Neuromuscular Diseases, vol. 2, no. s1, pp. S74-S77, 2015

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