S. G. Banugaria, T. T. Patel, and P. S. Kishnani, Immune modulation in Pompe disease treated with enzyme replacement therapy, Expert Rev Clin Immunol, vol.8, pp.497-499, 2012.

K. L. Berrier, Z. B. Kazi, S. N. Prater, D. S. Bali, J. Goldstein et al., CRIM-negative infantile Pompe disease: characterization of immune responses in patients treated with ERT monotherapy, Genet Med, vol.17, pp.912-918, 2015.

T. Bucher, M. A. Colle, E. Wakeling, L. Dubreil, J. Fyfe et al., ) scAAV9 intracisternal delivery results in efficient gene transfer to the central nervous system of a feline model of motor neuron disease, Hum Gene Ther, vol.24, pp.670-682, 2013.

T. Bucher, L. Dubreil, M. A. Colle, M. Maquigneau, J. Deniaud et al., Intracisternal delivery of AAV9 results in oligodendrocyte and motor neuron transduction in the whole central nervous system of cats, Gene Ther, vol.21, pp.522-528, 2014.
URL : https://hal.archives-ouvertes.fr/hal-01189927

T. A. Burrow, L. A. Bailey, D. G. Kinnett, and R. J. Hopkin, Acute progression of neuromuscular findings in infantile Pompe disease, Pediatr Neurol, vol.42, pp.455-458, 2010.

B. J. Byrne, D. J. Falk, C. A. Pacak, S. Nayak, R. W. Herzog et al., Pompe disease gene therapy, Hum Mol Genet, vol.20, pp.61-68, 2011.

B. J. Byrne, P. S. Kishnani, L. E. Case, L. Merlini, W. Muller-felber et al., Pompe disease: design, methodology, and early findings from the Pompe registry, Mol Genet Metab, vol.103, pp.1-11, 2011.

P. I. Byrne, S. Collins, C. C. Mah, B. Smith, T. Conlon et al., Phase I/II trial of diaphragm delivery of recombinant adeno-associated virus acid alpha-glucosidase (rAAaV1-CMV-GAA) gene vector in patients with Pompe disease, Hum Gene Ther Clin Dev, vol.25, pp.134-163, 2014.

M. Cardone, C. Porto, A. Tarallo, M. Vicinanza, B. Rossi et al., Abnormal mannose-6-phosphate receptor trafficking impairs recombinant alpha-glucosidase uptake in Pompe disease fibroblasts, PathoGenetics, vol.1, p.6, 2008.

M. Carre-pierrat, A. Lafoux, G. Tanniou, L. Chambonnier, A. Divet et al., Pre-clinical study of 21 approved drugs in the mdx mouse, Neuromuscul Disord, vol.21, pp.313-327, 2011.

L. E. Case, A. A. Beckemeyer, and P. S. Kishnani, Infantile Pompe disease on ERT: update on clinical presentation, musculoskeletal management, and exercise considerations, Am J Med Genet C Semin Med Genet, vol.160, pp.69-79, 2012.

C. P. Chen, S. P. Lin, C. Y. Tzen, F. J. Tsai, W. L. Hwu et al., Detection of a homozygous D645E mutation of the acid alpha-glucosidase gene and glycogen deposition in tissues in a second-trimester fetus with infantile glycogen storage disease type II, Prenat Diagn, vol.24, pp.231-232, 2004.

S. H. Cheng, Gene therapy for the neurological manifestations in lysosomal storage disorders, J Lipid Res, vol.55, pp.1827-1838, 2014.

Y. H. Chien, N. C. Lee, S. F. Peng, and W. L. Hwu, Brain development in infantileonset Pompe disease treated by enzyme replacement therapy, Pediatr Res, vol.60, pp.349-352, 2006.

M. Corti, B. K. Smith, D. J. Falk, L. A. Lawson, D. D. Fuller et al., Altered activation of the tibialis anterior in individuals with Pompe disease: implications for motor unit dysfunction, Muscle Nerve, vol.51, pp.877-883, 2015.

L. P. Cousens, F. Mingozzi, S. Van-der-marel, Y. Su, R. Garman et al., Teaching tolerance: new approaches to enzyme replacement therapy for Pompe disease, Hum Vaccin Immunother, vol.8, pp.1459-1464, 2012.

K. O. Cresawn, T. J. Fraites, C. Wasserfall, M. Atkinson, M. Lewis et al., Impact of humoral immune response on distribution and efficacy of recombinant adeno-associated virus-derived acid alpha-glucosidase in a model of glycogen storage disease type II, Hum Gene Ther, vol.16, pp.68-80, 2005.

L. R. Deruisseau, D. D. Fuller, K. Qiu, K. C. Deruisseau, W. H. Donnelly et al., Neural deficits contribute to respiratory insufficiency in Pompe disease, Proc Natl Acad Sci U S A, vol.106, pp.9419-9424, 2009.

E. Dirren, C. L. Towne, V. Setola, R. De, B. L. Schneider et al., Intracerebroventricular injection of adeno-associated virus 6 and 9 vectors for cell type-specific transgene expression in the spinal cord, Hum Gene Ther, vol.25, pp.109-120, 2014.

G. Douillard-guilloux, N. Raben, S. Takikita, L. Batista, C. Caillaud et al., Modulation of glycogen synthesis by RNA interference: towards a new therapeutic approach for glycogenosis type II, Hum Mol Genet, vol.17, pp.3876-3886, 2008.

I. Dreissig, S. Machill, R. Salzer, and C. Krafft, Quantification of brain lipids by FTIR spectroscopy and partial least squares regression, Spectrochim Acta A Mol Biomol Spectrosc, vol.71, pp.2069-2075, 2009.

S. S. Elliger, C. A. Elliger, C. P. Aguilar, N. R. Raju, and G. L. Watson, Elimination of lysosomal storage in brains of MPS VII mice treated by intrathecal administration of an adeno-associated virus vector, Gene Ther, vol.6, pp.1175-1178, 1999.

D. J. Falk, C. S. Mah, M. S. Soustek, K. Z. Lee, M. K. Elmallah et al., Intrapleural administration of AAV9 improves neural and cardiorespiratory function in Pompe disease, Mol Ther, vol.21, pp.1661-1667, 2013.

D. J. Falk, A. G. Todd, S. Lee, M. S. Soustek, M. K. Elmallah et al., Peripheral nerve and neuromuscular junction pathology in Pompe disease, Hum Mol Genet, vol.24, pp.625-636, 2015.

T. Federici, J. S. Taub, G. R. Baum, S. J. Gray, J. C. Grieger et al., Robust spinal motor neuron transduction following intrathecal delivery of AAV9 in pigs, Gene Ther, vol.19, pp.852-859, 2012.

D. D. Fuller, M. K. Elmallah, B. K. Smith, M. Corti, L. A. Lawson et al., The respiratory neuromuscular system in Pompe disease, Respir Physiol Neurobiol, vol.189, pp.241-249, 2013.

S. J. Gray, N. Kalburgi, S. Mccown, and T. J. , Global CNS gene delivery and evasion of anti-AAV-neutralizing antibodies by intrathecal AAV administration in non-human primates, Jude Samulski R, vol.20, pp.450-459, 2013.

V. Haurigot, S. Marco, A. Ribera, M. Garcia, A. Ruzo et al., Whole body correction of mucopolysaccharidosis IIIA by intracerebrospinal fluid gene therapy, J Clin Invest, 2013.

P. Heraud, S. Caine, N. Campanale, T. Karnezis, D. Mcnaughton et al., Early detection of the chemical changes occurring during the induction and prevention of autoimmune-mediated demyelination detected by FT-IR imaging, NeuroImage, vol.49, pp.1180-1189, 2010.

R. Hirschhorn and . Ra, Glycogen storage disease type II: acid alphaglucosidase (acid maltase) deficiency. In: Graw-Hill NYM (ed) The metabolic and molecular bases of inherited disease, pp.2289-3420, 2001.

L. D. Hobson-webb, A. D. Proia, B. L. Thurberg, S. Banugaria, S. N. Prater et al., Autopsy findings in late-onset Pompe disease: a case report and systematic review of the literature, Mol Genet Metab, vol.106, pp.462-469, 2012.

J. Hordeaux, L. Dubreil, J. Deniaud, F. Iacobelli, S. Moreau et al., Efficient central nervous system AAVrh10-mediated intrathecal gene transfer in adult and neonate rats, Gene Ther, vol.22, pp.316-324, 2015.
URL : https://hal.archives-ouvertes.fr/hal-01138008

A. Kiang, Z. C. Hartman, S. Liao, F. Xu, D. Serra et al., Fully deleted adenovirus persistently expressing GAA accomplishes long-term skeletal muscle glycogen correction in tolerant and nontolerant GSD-II mice, Mol Ther, vol.13, pp.127-134, 2006.

P. S. Kishnani, A. A. Beckemeyer, and N. J. Mendelsohn, The new era of Pompe disease: advances in the detection, understanding of the phenotypic spectrum, pathophysiology, and management, Am J Med Genet C Semin Med Genet, vol.160, pp.1-7, 2012.

D. D. Koeberl, S. Austin, L. E. Case, E. C. Smith, A. F. Buckley et al., Adjunctive albuterol enhances the response to enzyme replacement therapy in late-onset Pompe disease, FASEB J, vol.28, pp.2171-2176, 2014.

D. D. Koeberl, S. Li, J. Dai, B. L. Thurberg, D. Bali et al., 2012) ?2 agonists enhance the efficacy of simultaneous enzyme replacement therapy in murine Pompe disease, Mol Genet Metab, vol.105, pp.221-227

K. Z. Lee, K. Qiu, M. S. Sandhu, M. K. Elmallah, D. J. Falk et al., Hypoglossal neuropathology and respiratory activity in pompe mice, Front Physiol, vol.2, p.31, 2011.

S. Li, B. Sun, M. I. Nilsson, A. Bird, M. A. Tarnopolsky et al., Adjunctive beta2-agonists reverse neuromuscular involvement in murine Pompe disease, FASEB J, vol.27, pp.34-44, 2013.

J. J. Martin, T. De-barsy, F. Van-hoof, and G. Palladini, Pompe's disease: an inborn lysosomal disorder with storage of glycogen. A study of brain and striated muscle, Acta Neuropathol, vol.23, pp.229-244, 1973.

C. Martini, G. Ciana, A. Benettoni, F. Katouzian, G. M. Severini et al., Intractable fever and cortical neuronal glycogen storage in glycogenosis type 2, Neurology, vol.57, pp.906-908, 2001.

K. Meyer, L. Ferraiuolo, L. Schmelzer, L. Braun, V. Mcgovern et al., Improving single injection CSF delivery of AAV9-mediated gene therapy for SMA: a dose-response study in mice and nonhuman primates, Mol Ther, vol.23, pp.477-487, 2015.

M. A. Passini, J. Bu, A. M. Richards, C. M. Treleaven, J. A. Sullivan et al., Translational fidelity of intrathecal delivery of self-complementary AAV9-survival motor neuron 1 for spinal muscular atrophy, Hum Gene Ther, vol.25, pp.619-630, 2014.

P. Patel, J. Kriz, M. Gravel, G. Soucy, C. Bareil et al., Adenoassociated virus-mediated delivery of a recombinant single-chain antibody against misfolded superoxide dismutase for treatment of amyotrophic lateral sclerosis, Mol Ther, vol.22, pp.498-510, 2014.

K. Qiu, D. J. Falk, P. J. Reier, B. J. Byrne, and D. D. Fuller, Spinal delivery of AAV vector restores enzyme activity and increases ventilation in Pompe mice, Mol Ther, vol.20, pp.21-27, 2012.

N. Raben, M. Danon, A. L. Gilbert, S. Dwivedi, B. Collins et al., Enzyme replacement therapy in the mouse model of Pompe disease, Mol Genet Metab, vol.80, pp.159-169, 2003.

N. Raben, K. Nagaraju, E. Lee, P. Kessler, B. Byrne et al., Targeted disruption of the acid alphaglucosidase gene in mice causes an illness with critical features of both infantile and adult human glycogen storage disease type II, J Biol Chem, vol.273, pp.19086-19092, 1998.

J. E. Rabinowitz, F. Rolling, C. Li, H. Conrath, X. W. Xiao et al., Cross-packaging of a single adeno-associated virus (AAV) type 2 vector genome into multiple AAV serotypes enables transduction with broad specificity, J Virol, vol.76, pp.791-801, 2002.

M. Rohrbach, A. Klein, A. Kohli-wiesner, D. Veraguth, I. Scheer et al., CRIM-negative infantile Pompe disease: 42-month treatment outcome, J Inherit Metab Dis, vol.33, pp.751-757, 2010.

L. Samaranch, E. A. Salegio, S. Sebastian, W. Kells, A. P. Bringas et al., Strong cortical and spinal cord transduction after AAV7 and AAV9 delivery into the cerebrospinal fluid of nonhuman primates, Hum Gene Ther, vol.24, pp.526-532, 2013.

L. Samaranch, E. A. Salegio, S. Sebastian, W. Kells, A. P. Foust et al., Adeno-associated virus serotype 9 transduction in the central nervous system of nonhuman primates, Hum Gene Ther, vol.23, pp.382-389, 2012.

F. Severcan and . Hpi, Vibrational Spectroscopy in Diagnosis and Screening. In: Advances in Biomedical Spectroscopy, vol.6, 2012.

S. Shen, K. D. Bryant, J. Sun, S. M. Brown, A. Troupes et al., Glycan binding avidity determines the systemic fate of adenoassociated virus type 9, J Virol, vol.86, pp.10408-10417, 2012.

S. Shen, E. D. Horowitz, A. N. Troupes, S. M. Brown, N. Pulicherla et al., Engraftment of a galactose receptor footprint onto adeno-associated viral capsids improves transduction efficiency, J Biol Chem, vol.288, pp.28814-28823, 2013.

R. L. Sidman, T. Taksir, J. Fidler, M. Zhao, J. C. Dodge et al., Temporal neuropathologic and behavioral phenotype of 6neo/6neo Pompe disease mice, J Neuropathol Exp Neurol, vol.67, pp.803-818, 2008.

B. K. Smith, S. W. Collins, T. J. Conlon, C. S. Mah, L. A. Lawson et al., Phase I/II trial of adeno-associated virus-mediated alpha-glucosidase gene therapy to the diaphragm for chronic respiratory failure in Pompe disease: initial safety and ventilatory outcomes, Hum Gene Ther, vol.24, pp.630-640, 2013.

B. K. Smith, A. D. Martin, L. A. Lawson, V. Vernot, J. Marcus et al., Inspiratory muscle conditioning exercise and diaphragm gene therapy in Pompe disease: clinical evidence of respiratory plasticity, Exp Neurol, vol.287, pp.216-224, 2017.

G. A. Spiridigliozzi, J. H. Heller, P. S. Kishnani, A. T. Van-der-ploeg, B. J. Ebbink et al., Cognitive outcome of patients with classic infantile Pompe disease receiving enzyme therapy, Neurology, vol.80, p.1173, 2013.

B. Sun, S. P. Young, P. Li, C. Di, T. Brown et al., Correction of multiple striated muscles in murine Pompe disease through adeno-associated virus-mediated gene therapy, Mol Ther, vol.16, pp.1366-1371, 2008.

B. Sun, H. Zhang, D. K. Benjamin, T. Brown, A. Bird et al., Enhanced efficacy of an AAV vector encoding chimeric, highly secreted acid alpha-glucosidase in glycogen storage disease type II, Mol Ther, vol.14, pp.822-830, 2006.

B. Sun, H. Zhang, L. M. Franco, S. P. Young, A. Schneider et al., Efficacy of an adeno-associated virus 8-pseudotyped vector in glycogen storage disease type II, Mol Ther, vol.11, pp.57-65, 2005.

Y. T. Teng, W. J. Su, J. W. Hou, and S. F. Huang, Infantile-onset glycogen storage disease type II (Pompe disease): report of a case with genetic diagnosis and pathological findings, Chang Gung Med J, vol.27, pp.379-384, 2004.

B. L. Thurberg, L. Maloney, C. Vaccaro, C. Afonso, K. Tsai et al., Characterization of pre-and posttreatment pathology after enzyme replacement therapy for Pompe disease, Lab Investig, vol.86, pp.1208-1220, 2006.

A. G. Todd, J. A. Mcelroy, R. W. Grange, D. D. Fuller, G. A. Walter et al., Correcting neuromuscular deficits with gene therapy in Pompe disease, Ann Neurol, vol.78, pp.222-234, 2015.

S. M. Turner, D. J. Falk, B. J. Byrne, and D. D. Fuller, Transcriptome assessment of the Pompe (Gaa?/?) mouse spinal cord indicates widespread neuropathology, Physiol Genomics, vol.00075, p.2016, 2016.

S. M. Turner, A. K. Hoyt, M. K. Elmallah, D. J. Falk, B. J. Byrne et al., Neuropathology in respiratory-related motoneurons in young Pompe (Gaa(?/?)) mice, Respir Physiol Neurobiol, vol.227, pp.48-55, 2016.

C. M. Van-gelder, M. Hoogeveen-westerveld, M. A. Kroos, I. Plug, A. T. Van-der-ploeg et al., Enzyme therapy and immune response in relation to CRIM status: the Dutch experience in classic infantile Pompe disease, J Inherit Metab Dis, vol.38, pp.305-314, 2015.

C. M. Van-gelder, C. I. Van-capelle, B. J. Ebbink, I. Moor-van-nugteren, J. M. Van-den-hout et al., Facial-muscle weakness, speech disorders and dysphagia are common in patients with classic infantile Pompe disease treated with enzyme therapy, J Inherit Metab Dis, vol.35, pp.505-511, 2012.

G. Wang, S. P. Young, D. Bali, J. Hutt, S. Li et al., Assessment of toxicity and biodistribution of recombinant AAV8 vectormediated immunomodulatory gene therapy in mice with Pompe disease, 2014.

, Mol Ther Methods Clin Dev, vol.1, p.14018

H. Wang, B. Yang, L. Qiu, C. Yang, J. Kramer et al., Widespread spinal cord transduction by intrathecal injection of rAAV delivers efficacious RNAi therapy for amyotrophic lateral sclerosis, Hum Mol Genet, vol.23, pp.668-681, 2014.

G. Watson, J. Bastacky, P. Belichenko, M. Buddhikot, S. Jungles et al., Intrathecal administration of AAV vectors for the treatment of lysosomal storage in the brains of MPS I mice, Gene Ther, vol.13, pp.917-925, 2006.

F. Xu, E. Ding, S. X. Liao, F. Migone, J. Dai et al., Improved efficacy of gene therapy approaches for Pompe disease using a new, immune-deficient GSD-II mouse model, Gene Ther, vol.11, pp.1590-1598, 2004.

X. Zhou, P. H. Jen, K. L. Seburn, W. N. Frankel, and Q. Y. Zheng, Auditory brainstem responses in 10 inbred strains of mice, Brain Res, vol.1091, pp.16-26, 2006.