Unités de recherche
UMR INSERM-UPEC U955 - Team 10
‘Cell Interactions in neuromuscular system’
1. Introduction
a. History of our research lab
Current lab INSERM UPEC U955-Team 10 ‘Cell interactions in the neuromuscular system’ is dedicated to clinical,
translational and basic research in myology, through privileged interplays with the Reference Neuromuscular Center
Garches-Necker-Mondor-Hendaye (GNMH). Team 10’ main expertise is situated in the field of neuromuscular diseases
(NMD) with special skills in cell and tissue biology, animal models, and clinical research due to the large spectrum of
formations of its members (INSERM, MD-PhDs with both clinical and pathological practice, tenure members of the
faculty of Sciences of UPEC). Since 2008, two groups left the team, one led by B. Chazaud which joined the Cochin
Institute (Paris 5 University) and the other led by F. Chretien who created the ‘Human histopathology and animal
models’ unit in Pasteur Institute (Paris), these both groups being mainly involved in translational/basic research. In
2012, V. Planté-Bordeneuve (Neurologist, PUPH) who is in charge of neuromuscular amyloidosis cohorts in GNMH
Reference Center joined the team. In 2014, three research groups will have joined Team 10 to reinforce its
translational/basic research axis: (i) a group from the lab UMR955 INRA-ENVA Functional & Medical Genetics led by L.
Tiret; (ii) the ‘Laboratory of neurobiology’ from the Alfort School of Veterinary Medicine (dir. S. Blot); and (iii) the
‘Development and Stem cells’ lab (dir. F Relaix, DR2), currently Team 2 of INSERM/UPMC UMR 787 (dir. D Sassoon),
the future lab being co-head by FJ Authier and F Relaix (2015).
b. Characterization of our research
In line with our medical activity in GNMH Reference Center, our biomedical research aims (to 1) to develop from
databases staging models that better predict prognosis and evolution of diseases; (2) to define disease pathways and
biomarkers to inform the selection of novel drug targets that can then be further explored and validated by animal
models; (3) to develop Innovative treatments of NMDs including bio-therapeutic approaches. By including in the same
lab physicians with expertise in neuromuscular clinics and pathology, biologists specialized in animal/cell modeling of
NMDs, and basic scientists working in muscle tissue biology, we will gather all skills required for our purposes.
Our research can be schematically divided in 3 parts: clinical, translational and basic research. In clinical research, we
focus on the most representative NMDs of our Reference Center (myotonic dystrophies, neuromuscular amyloidosis,
inflammatory myopathies and chronic fatigue syndrome/myalgic encephalomyelitis CFS/ME) and study their
phenotypic characterization, the identification of severity/prognosis biomarkers and the setting up of therapeutic
trials. In translational research, we use small (mouse) and large (domestic carnivores) animal models of NMD including
spontaneous murine or canine models of inherited conditions, transgenic mice and nanoparticles-injected normal
mice. These models allow us to investigate pathways implicated in disease pathophysiology and the role of
exogenous/endogenous modifying factors, and to pre-clinically evaluate innovative therapeutic strategies. In basic
research we use cell culture and transgenic animal models to investigate (i) the molecular mechanisms involved in
skeletal muscle and peripheral nervous system development; (ii) the physiological interplays between different cell
types in normal muscle; and (iii) the elementary mechanisms at work in post-injury muscular regeneration process.
2. Scientific project
The team aims at characterizing pathogenic mechanisms of neuromuscular diseases (NMD) and developing
biomarkers and innovative therapies, and includes (i) biomarkers/therapeutic trials in NMD, (ii) experimental
modeling of NMD, and (iii) cellular/molecular studies in basic mycology (in blue, refs authored by team members).
a. Cohort studies: Biomarkers and innovative therapies in NMD
1
Unités de recherche
Myotonic dystrophies (PI, G Bassez)
We are responsible for the DM-Scope registry (AFM/APHP/Inserm), a European virtual registry (www.dmscope.fr)
including patients with myotonic dystrophies (MD) followed in a standardized manner in different countries, with a
North American counterpart in Québec (Laval University). Record includes personal details, social and professional
consequences, diagnosis, natural history, neuromuscular attempt, cardiologic troubles, respiratory defects, digestive
and endocrine aspects (Udd, 2011). This tool was set up in the perspective of therapeutic trials in MD.
Neuromuscular amyloidosis (PI, V Planté-Bordeneuve)
Tranthyretin (TTR) amyloidosis is due to fibrillar amyloid deposition of misfolded TTR and is the most severe
dominantly inherited neuropathy of adulthood (Planté-Bordeneuve, 2011). Our research aims to refine knowledge on
the phenotypic spectrum as well as unravel the factors underlying the amyloid process. THAOS1 is an international
database including comprehensive data from 1500 patients and representing a major tool to refine our knowledge on
the phenotypic spectrum, geno-phenotypic correlations, and natural history of the disease... Our site is running the
database in France and actively implicated in the executive scientific committee in charge of the clinical research
projects beyond the survey. We develop 2 specific projects:
1/ Refining TTR amyloidosis genetics. To understand the phenotypic variability of ATTR, we investigate the role of
modifying genetic factors (Bonaïti, 2009; Olsson, 2009; Saporta, 2009a, 2009b) in through transcriptomic microarray
studies on various samples, i.e. liver biopsies, the main source of TTR synthesis (collaboration with Pr O SuhrUniversity of Umea- Sweden), and blood lymphocytes (collaboration with Pr Levy- Inserm CHU Henri Mondor).
2/ Investigating innovative therapies. The oral drug tafamidis* has proven to slow the neuropathy if administered at
an early stage (Coehlo, 2012). Antisense oligonucleotide (ASO) strategy and RNA interference TTR gene silencing
(siRNA) are currently being developed. Both are particles of systemic delivery containing sequence-specific TTR genesilencing. They target hepatocytes in order to suppress wild type and mutated TTR transcription. Phase 2-3 trials are
planned in 2013 for each compound, at our site. The need for early diagnostic biomarkers is critical in order to
administer therapeutics at the earliest stage. In this context, we are setting up works dedicated to detect small nerve
fibers dysfunction, which are first altered by the amyloid process, including both neurophysiological and
morphological approaches (intraepidermal nerve fibers density evaluation; Sene, 2010).
Inflammatory/dysimmune myopathies (PI, FJ Authier)
In the field of chronic fatigue syndrome/myalgic encephalomyelitis (CFS/ME), we focused our research on the specific
case of aluminum hydroxide (alum)-induced macrophagic myofasciitis (MMF) for years. Or group first identified this
condition (Gherardi, 1998) and provided almost all works dealing with its phenotypic characterization and
pathophysiology (Gherardi, 2001; Authier, 2001; Authier, 2003; Authier, 2006; Couette, 2009; Exley, 2009; Passeri,
2011). Among CFS syndromes, MMF is characterized by a severe neurocognitive disorder, with a neuropsychological
pattern suggestive of organic toxic/inflammatory fronto-subcortical involvement (Couette, 2009; Passeri, 2011).
Experimental data indicate that intramacrophagic nanomaterials can enter brain tissue through a MCP1-dependent
Trojan horse process (Khan, submitted). This phenomenon could be at the origin of a toxic neuroinflammatory
reaction, leading to neuronal impairment and cognitive dysfunction. Our main programs in this field are: (1)
Neurotox-Alu (Region Ile-de-France, PICRI) to set up a national database for ASIA 2/MMF, and to investigate chemokine
genes polymorphisms in MMF patients; (2) DIASCOM study aiming to generate non-histological predictive scores for
MMF combining clinical and/or biological and/or ultrasonographic parameters, obtained from multivariate analysis of
myalgic patients cohort. These scores will be designed to be suitable for large-scale prospective studies or
epidemiological surveys; and (3) Robot-MFM, the first therapeutic trial in MMF, exploring the therapeutic efficiency of
transcranial magnetic stimulation (collaboration with NET team/EA4391). In the field of myopathology, we develop a
program investigating the diagnostic value of various tissue biomarkers (MHC-1 and -2, STAT1, IFITM3,
microvasculature) (Ranque, 2010). We also investigate the role of complement system activation in acquired and nonacquired myopathies and evaluate the potential therapeutic benefits of its deactivation in dysferlinopathy.
b. Experimental modeling of NMD
Animal models are suitable to investigate pathophysiological mechanisms and innovative therapeutic approaches of
human NMD. We developed programs using various type of models: spontaneous genopathy homologous of human
myopathies (mouse: dysferlinopathy), transgenic mice (dysferlinopathy, type 1-myotonic dystrophy), or
experimentally manipulated nanoparticles-injected normal mice (MMF).
Murine models of NMD: Pathophysiological investigations and therapeutic screening (PI, J Cadusseau)
Systemic transport of particles by phagocytes. Though alum safety crucially depends on whether the compound will
remain localized at site of injection or diffuse and accumulate in distant organs, the biodistribution of nanomaterials
1
THAOS: Transthyretin Hereditary Amyloidosis Outcome Survey
ASIA, Autoimmune/inflammatory syndrome induced by adjuvants. ASIA is a term coined by Y Shoenfeld (J Autoimmun, 2011;36:4-8) to
encompass all inflammatory or immune-mediated conditions induced by the exposure to a component with immune adjuvant properties.
2
2
Unités de recherche
injected into muscle has not been investigated. Since muscle injury elicits monocyte/macrophage (MO/MP) infiltration
and migration to lymphoid organs, and since alum is avidly phagocytozed by cells of this lineage, we hypothesized that
a proportion of nanomaterials injected into muscle could translocate to distant organs as part of a general mechanism
linked to phagocytosis. Preliminary results have substantiated this view and have pointed to the possible implication
of MCP-1/CCL2 chemokine–dependent mechanism for the translocation of nanomaterials into the brain (Khan,
submitted). We will address this issue in a multitask manner: 1 / construction of fluorescent nanohybrids mimicking
alum; 2/ determining the systemic biodistribution of fluorescent particles injected in mouse; 3/ investigating the role
of MCP-1 through loss or gain of function experiments; 4/evaluating the impact of chronic blood-brain barrier
alteration on neurodelivery; 5/ quantitative assessment of neurotranslocation using 26Al as a tracer; and 6/ evaluating
the neurotoxicological potential of aluminum adjuvants.
Pathophysiology and therapies of dysferlinopathies. Dysferlin deficiency is the causal factor of muscular dystrophies
called ‘dysferlinopathies’, characterized a defective membrane repair and which have in common the following
peculiarities: (i) a non-conventional course, with a long period of time, during which muscle function is normal; (ii) a
phenotypic variability, not correlated with genotype; and (iii) a muscle pathology characterized by inflammation and
complement activation (Bansal, 2004; Han, 2011). Using mouse models of dysferlin deficiency, we evidenced 1/ the
determining role of eccentric exercise in disease phenotype and severity, and 2/ the benefit of chronic concentric
exercise (Biondi, in revision). At present, we focus on deciphering the role of complement in muscle pathology and
evaluating the potential therapeutic efficiency of approaches aiming to deactivate complement system.
c. Basic biology of skeletal muscle tissue
Relationships between microvascular cells and muscle SCs during post-natal muscle growth (PI, R Gherardi)
We aim at understanding the functional relationships between microvascular cells and muscle satellite cells (mSCs)
during post-natal muscle growth. We previously showed that (1) similarly to rodents, muscle microvasculature is
stereotypically organized into microvascular units of 6-to-8 capillaries in humans, (Gitiaux 2012); (2) capillaries are
closely associated to, and functionally interact with mSCs in adult humans and mice (Christov 2007); 3) both autocrine
and paracrine Angiopoietin1 (Ang1/Tie2) signalling promotes mSC quiescence and self-renewal (Abou-Khalil 2009).
Capillaries host endothelial cells (ECs) and periendothelial cells (pericytes) that exert EC stabilizing properties, and
represent one important source of Ang1. We showed that in adult muscle almost all capillary sections show pericyte
coverage, and 80-90% of quiescent mSCs are closely associated with a pericyte. Moreover, preliminary results indicate
that during post-natal muscle growth, microvessels are initially remote from actively cycling mSCs and progressively
enter in their vicinity as they fuse with growing myofibers or become mitotically quiescent. The phenomenon is
associated with myofiber growth suggesting coordinated angio-myogenesis.
Muscle microvasculature, which represents a major aspect of muscle stem cell biology, is only beginning to be
explored. Our working hypothesis, supported by a large set of preliminary functional studies, is that ECs and pericytes
exert paracrine supportive effects on neighbouring mSCs at play during muscle growth, and homeostasis. We
observed that, in culture models mimicking growing immature vessels, ECs basically exert mitogenic effects whereas
pericytes promote fusion of myogenic cells. In this project the juxtaposition between vascular cells and mSCs will be
mapped more precisely and the influence of these cells on SCs behaviour examined in coculture. Transcriptome and
secretome profiles of adult human muscle derived ECs and pericytes will be analysed and candidates examined for
function on cultured mSCs and in single myofiber studies. In vivo analyses will use Cre-Lox models already constructed
in the lab to allow conditional muscle pericyte ablation and inducible pericyte targeted genetic strategies.
3. References
Abitbol M., Thibaud J.L., Olby N.J., Hitte C., Puech J.P., Maurer M., Pilot-Storck F., Hedan B., Dreano S., Brahimi S., Delattre D.,
Andre C., Gray F., Delisle F., Caillaud C., Bernex F., Panthier J.J., Aubin-Houzelstein G., Blot S., Tiret L. (2010). A canine
Arylsulfatase G (ARSG) mutation leading to a sulfatase deficiency is associated with neuronal ceroid lipofuscinosis. Proc Natl
Acad Sci U S A. 107, 14775-14780
Abou-Khalil R, Le Grand F, Pallafacchina G, Valable S, Authier FJ, Rudnicki MA, Gherardi RK, Germain S, Chretien F, Sotiropoulos A,
Lafuste P, Montarras D, Chazaud B. Autocrine and paracrine angiopoietin 1/Tie-2 signaling promotes muscle satellite cell selfrenewal. Cell Stem Cell 2009;5:298-309
Authier FJ, Cherin P, Creange A, Bonnotte B, Ferrer X, Abdelmoumni A, Ranoux D, Pelletier J, Figarella-Branger D, Granel B,
Maisonobe T, Coquet M, Degos JD, Gherardi RK. Central nervous system disease in patients with macrophagic myofasciitis.
Brain. 2001 May;124(Pt 5):974-83.
Authier FJ, Sauvat S, Champey J, Drogou I, Coquet M, Gherardi RK. Chronic fatigue syndrome in patients with macrophagic
myofasciitis. Arthritis Rheum. 2003 Feb;48(2):569-70. PubMed PMID: 12571868.
Authier FJ, Sauvat S, Christov C, Chariot P, Raisbeck G, Poron MF, Yiou F, Gherardi R. AlOH3-adjuvanted vaccine-induced
macrophagic myofasciitis in rats is influenced by the genetic background. Neuromuscul Disord. 2006 May;16(5):347-52.
3
Unités de recherche
Bansal D, Campbell KP. Dysferlin and the plasma membrane repair in muscular dystrophy. Trends in Cell Biology. 2004; 14: 206-13
Barthelemy I, Barrey E, Aguilar A., Uriarte A, Le Chevoir M, Thibaud JL, Voit T, Blot S., Hogrel JY. Longitudinal ambulatory
measurements of gait abnormality in dystrophin-deficient dogs. BMC Musculoskelet Disord 2011;12:75
Barthelemy I, Barrey E, Thibaud JL, Uriarte A, Voit T, Blot S, Hogrel JY. Gait analysis using accelerometry in dystrophin-deficient
dogs. Neuromuscul Disord 2009;19:788-796
Bedu AS, Labruyère JJ, Thibaud JL, Barthélémy I, Leperlier D, Saunders JH, Blot S. Age-related thoracic radiographic changes in
golden and labrador retriever muscular dystrophy. Vet Radiol Ultrasound. 2012;53(5):492-500
Beggs A.H., Böhm J., Snead E., Kozlowski M., Maurer M., Minor K., Childers M.K., Taylor S.M., Hitte C., Mickelson J.R., Guo L.T.,
Mizisin A.P., Buj-Bello A., Tiret L., Laporte J., Shelton G.D. (2010). MTM1 mutation associated with X-linked myotubular
myopathy in Labrador Retrievers. Proc Natl Acad Sci U S A. 107, 14697-14702
Biondi O, Villemeur M, Marchand A, Chretien F, Bourg N, Gherardi RK, Richard I, Authier FJ. The évolution of myopathy in dysferlin
déficient mouse is determined by physical activity profile. Am. J. Path 2012, in revision
Böhm J., Vasli N., Maurer M., Cowling B., Shelton G.D., Kress W., Prokic I., Schara U., Anderson J., Herrmann R., Weis J., Tiret L.,
Laporte J. Mutation-Induced Splicing of the BIN1 Muscle-Specific Exon in Humans and Great Danes with Highly Progressive
Centronuclear Myopathy. Revision in PLoS Genetics.
Bonaïti B, Alarcon F, Bonaïti-Pellié C, Planté-Bordeneuve V. Parent-of-origin effect in transthyretin related amyloid polyneuropathy.
Amyloid 2009;16:149-50
Brigitte M, Schilte C, Plonquet A, Baba-Amer Y, Henri A, Charlier C, Tajbakhsh S, Albert M, Gherardi RK, Chrétien F. Muscle resident
macrophages control the immune cell reaction in a mouse model of notexin-induced myoinjury. Arthritis Rheum 2010;62:26879
Cassano M, Berardi E, Crippa S, Toelen J, Barthelemy I, Micheletti R, Chuah M, Vanderdriessche T, Debyser Z, Blot S, Sampaolesi M.
Alteration of cardiac progenitor cell potency in GRMD dogs. Cell Transplant. 2012 Apr 10
Coelho T, Maia LF, Martins da Silva A, Waddington Cruz M, Planté-Bordeneuve V, Lozeron P, Suhr OB, Campistol JM, Conceição IM,
Schmidt HH, Trigo P, Kelly JW, Labaudinière R, Chan J, Packman J, Wilson A, Grogan DR. Tafamidis for transthyretin familial
amyloid polyneuropathy: a randomized, controlled trial. Neurology. 2012;79(8):785-92
Couette M, Boisse MF, Maison P, Brugières P, Cesaro P, Chevalier X, Gherardi RK, Bachoud-Lévi AC, Authier FJ. Long-term
persistence of vaccine-derived aluminum hydroxide is associated with chronic cognitive dysfunction. J Inorg Biochem
2009;103:1571-8
de Luna N, Gallardo E, Sonnet C, Chazaud B, Dominguez-Perles R, Suarez-Calvet X, Gherardi RK, Illa I. Role of thrombospondin 1 in
macrophage inflammation in dysferlin myopathy. J Neuropathol Exp Neurol 2010;69:643-53
Denard J, Beley C, Kotin R, Lai-Kuen R, Blot S, Leh H, Asokan A, Samulski RJ, Moullier P, Voit T, Garcia L, Svinartchouk F. Human
galectin 3 binding protein interacts with recombinant adeno-associated virus type 6. J Virol. 2012;86(12):6620-31
Dumas A, Brigitte M, Moreau MF, Chrétien F, Baslé MF, Chappard D. Bone mass and microarchitecture of irradiated and bone
marrow-transplanted mice: influences of the donor strain. Osteoporos Int. 2009;20(3):435-43
Exley C, Swarbrick L, Gherardi RK, Authier FJ. A role for the body burden of aluminium in vaccine-associated macrophagic
myofasciitis and chronic fatigue syndrome. Med Hypotheses 2009;72:135-9
Gherardi RK, Coquet M, Chérin P, Authier FJ, Laforêt P, Bélec L, Figarella-Branger D, Mussini JM, Pellissier JF, Fardeau M.
Macrophagic myofasciitis: an emerging entity. Groupe d'Etudes et Recherche sur les Maladies Musculaires Acquises et
Dysimmunitaires (GERMMAD) de l'Association Française contre les Myopathies (AFM). Lancet. 1998 Aug 1;352(9125):347-52
Gherardi RK, Coquet M, Cherin P, Belec L, Moretto P, Dreyfus PA, Pellissier JF, Chariot P, Authier FJ. Macrophagic myofasciitis
lesions assess long-term persistence of vaccine-derived aluminium hydroxide in muscle. Brain. 2001 Sep;124(Pt 9):1821-31.
Gitiaux C, Kostallari E, Lafuste P, Authier FJ, Christov C, Gherardi RK. Whole microvascular unit deletions in dermatomyositis. Ann
Rheum Dis. 2012;71:628-9
Han R. Muscle membrane repair and inflammatory attack in dysferlinopathy. Skeletal Muscle. 2011; 1:10
Khan Z, Combadière C, Authier FJ, Itier V, Lux F, Exley C, Marouf-Yorgov M, Decrouy X, Moretto P, Tillement O, Cadusseau J,
Gherardi RK. Biopersistent nanomaterials captured by tissular phagocytes undergo CCL2-dependent scattering and slowly
accumulate in brain. 2012, submitted
Kowalewski B, Lamanna WC, Lawrence R, Damme M, Stroobants S, Padva M, Kalus I, Frese MA, Lübke T, Lüllmann-Rauch R,
D'Hooge R, Esko JD, Dierks T. Arylsulfatase G inactivation causes loss of heparan sulfate 3-O-sulfatase activity and
mucopolysaccharidosis in mice. Proc Natl Acad Sci U S A. 2012 Jun 26;109(26):10310-5.
Liu R, Ginn SL, Lek M, North KN, Alexander IE, Little DG, Schindeler A. Myoblast sensitivity and fibroblast insensitivity to osteogenic
conversion by BMP-2 correlates with the expression of Bmpr-1a. BMC Musculoskeletal Disorders. 2009;10:51–62
Mark Erwin W, Islam D, Eftekarpour E, Inman RD, Karim MZ, Fehlings MG Intervertebral Disc-Derived Stem Cells: Implications for
Regenerative Medicine and Neural Repair. Spine (Phila Pa 1976). 2012 Jul 4. [Epub ahead of print]
Maurer M., Mary J., Guillaud L., Fender M., Pelé M., Bilzer T., Olby N., Penderis J., Shelton G.D., Panthier J.J., Thibaud J.L.,
Barthélémy I., Aubin-Houzelstein G., Blot S., Hitte C., Tiret L. (2012). Centronuclear myopathy in Labrador Retrievers: a recent
founder mutation in the PTPLA gene has rapidly disseminated worldwide. PLoS ONE. 7(10), e46408
Olsson M, Hellman U, Planté-Bordeneuve V, Jonasson J, Lång K, Suhr OB. Mitochondrial haplogroup is associated with the
phenotype of familial amyloidosis with polyneuropathy in Swedish and French patients. Clin Genet. 2009 ;75(2):163-8
Passeri E, Villa C, Couette M, Itti E, Brugieres P, Cesaro P, Gherardi RK, Bachoud-Levi AC, Authier FJ. Long-term follow-up of
cognitive dysfunction in patients with aluminum hydroxide-induced macrophagic myofasciitis (MMF). J Inorg Biochem.
2011;105:1457-63
Pelé M, Tiret L, Kessler JL, Blot S, Panthier JJ. SINE exonic insertion in the PTPLA gene leads to multiple splicing defects and
ségrégâtes with the autosomal récessive centronuclear myopathy in dogs. Hum Mol Genet 2005, 14,1417-27.
Planté-Bordeneuve V, Said G. Familial amyloid polyneuropathy. Lancet Neurol.2011;10(12):1086-97.
Ranque B, Bérezné A, Le-Guern V, Pagnoux C, Allanore Y, Launay D, Hachulla E, Authier FJ, Gherardi R, Kahan A, Cabane J, Guillevin
L, Mouthon L. Myopathies related to systemic sclerosis: a case-control study of associated clinical and immunological features.
Scand J Rheumatol 2010;39:498-505
4
Unités de recherche
Sampaolesi M, Blot S, D'Antona G, Granger N, Tonlorenzi R, Innocenzi A, Mognol P, Thibaud JL, Galvez BG, Barthélémy I, Perani L,
Mantero S, Guttinger M, Pansarasa O, Rinaldi C, Cusella De Angelis MG, Torrente Y, Bordignon C, Bottinelli R, Cossu G.
Mesoangioblast stem cells ameliorate muscle function in dystrophic dogs. Nature. 2006 Nov 30;444(7119):574-9.
Saporta MA, Plante-Bordeneuve V, Misrahi M, Cruz MW. Discordant expression of familial amyloid polyneuropathy in monozygotic
Brazilian twins. Amyloid 2009;16:38-41
Saporta MA, Zaros C, Cruz MW, André C, Misrahi M, Bonaïti-Pellié C, Planté-Bordeneuve V . Penetrance estimation of TTR familial
amyloid polyneuropathy (type I) in Brazilian families. Eur J Neurol 2009;16:337-41
Schindeler A, Liu R, Little DG. The contribution of different cell lineages to bone repair: Exploring a role for muscle stem cells.
Differentiation. 2009;77:12–8
Sène D, Authier FJ, Amoura Z, Cacoub P, Lefaucheur JP. Small fibre neuropathy: Diagnostic approach and therapeutic issues, and its
association with primary Sjögren's syndrome. Rev Med Interne. 2010;31:677-84
Thibaud JL, Azzabou N, Barthelemy I, Fleury S, Cabrol L, Blot S, Carlier PG. Comprehensive longitudinal characterization of canine
muscular dystrophy by serial NMR imaging of GRMD dogs. Neuromuscul Disord. 2012 Oct 1;22 Suppl 2:S85-99
Udd B, Meola G, Krahe R, Wansink DG, Bassez G, Kress W, Schoser B, Moxley R. Myotonic dystrophy type 2 (DM2) and related
disorders report of the 180th ENMC workshop including guidelines on diagnostics and management 3-5 December 2010,
Naarden, The Netherlands. Neuromuscul Disord. 2011 Jun;21(6):443-50
Vaysse A., Ratnakumar A., Derrien T., Axelsson E., Rosengren Pielberg G., Sigurdsson S., Fall T., Seppälä E.H., Hansen M.S.T., Lawley
C.T., Karlsson E.K., The LUPA Consortium, Bannasch D., Vilà C., Lohi H., Galibert F., Fredholm M., Häggström J., Hedhammar Å.,
André C., Lindblad-Toh K., Hitte C., Webster M.T. (2011). Identification of Genomic Regions Associated with Phenotypic
Variation between Dog Breeds using Selection Mapping. PLoS Genet. 7, e1002316-e1002316
Wary C, Naulet T, Thibaud JL, Monnet A, Blot S, Carlier PG. Splitting of Pi and other (31) P NMR anomalies of skeletal muscle
metabolites in canine muscular dystrophy. NMR Biomed. 2012;25(10):1160-9
Zhao CQ, Wang LM, Jiang LS, Dai LY. The cell biology of intervertebral disc aging and degeneration. Ageing Res Rev. 2007;6(3):24761
5