Browsing by Author "Voermans, N.C."

Now showing items 1-50 of 168

A novel role for the extracellular matrix glycoprotein-Tenascin-X in gastric function
Aktar, Rubina; Peiris, Madusha; Fikree, Asma; Eaton, S.; Kritas, Stamatiki; Kentish, Stephen J.; Voermans, N.C. ; Aziz, Qasim; Blackshaw, L.Ashley
2019, Article / Letter to editor (Journal of Physiology, vol. 597, iss. 6, (2019), pp. 1503-1515)
Author response: A family-based study into penetrance in facioscapulohumeral muscular dystrophy type 1
Voermans, N.C. ; Goselink, R.J.M.
2019, Article / Letter to editor (Neurology, vol. 92, iss. 13, (2019), pp. 637)
Bi-allelic AEBP1 mutations in two patients with Ehlers-Danlos syndrome
Syx, D.; Wandele, I. De; Symoens, S.; Rycke, R. de; Hougrand, O.; Voermans, N.C. ; Paepe, A. De; Malfait, F.
2019, Article / Letter to editor (Human Molecular Genetics, vol. 28, iss. 11, (2019), pp. 1853-1864)
Muscle fiber dysfunction contributes to weakness in inclusion body myositis
Lassche, S.; Rietveld, A.; Heerschap, A. ; Hees, H.W.H. van ; Hopman, M.T.E. ; Voermans, N.C. ; Saris, C.G.J. ; Engelen, B.G.M. van ; Ottenheijm, C.A.
2019, Article / Letter to editor (Neuromuscular Disorders, vol. 29, iss. 6, (2019), pp. 468-476)
Aberrant regulation of epigenetic modifiers contributes to the pathogenesis in patients with selenoprotein N-related myopathies
Bachmann, Christoph; Noreen, Faiza; Voermans, N.C. ; Schaer, Primo L.; Vissing, J.; Fock, J.M.; Kusters, B. ; Zorzato, F.; Treves, S.
2019, Article / Letter to editor (Human Mutation, vol. 40, iss. 7, (2019), pp. 962-974)
SMCHD1 mutation spectrum for facioscapulohumeral muscular dystrophy type 2 (FSHD2) and Bosma arhinia microphthalmia syndrome (BAMS) reveals disease-specific localisation of variants in the ATPase domain
Lemmers, R.; Stoep, N. van der; Vliet, P.J.V.; Moore, S.A.; San Leon Granado, D.; Johnson, K.; Topf, A.; Straub, V.; Evangelista, T.; Mozaffar, T.; Kimonis, V.; Shaw, N.D.; Selvatici, R.; Ferlini, A.; Voermans, N.C. ; Engelen, B.G.M. van ; Sacconi, S.; Tawil, R.; Lamers, M.; Maarel, S.M. van der et al. sine al.
2019, Article / Letter to editor (Journal of Medical Genetics, vol. 56, iss. 10, (2019), pp. 693-700)
Autosomal recessive limb-girdle and Miyoshi muscular dystrophies in the Netherlands: The clinical and molecular spectrum of 244 patients
Dam, Leroy ten; Frankhuizen, Wendy S.; Linssen, Wim H.J.P.; Straathof, C.S.; Niks, Erik H.; Faber, Karin; Voermans, N.C. ; Westra, D. ; Kooi, A.J. van der; Ginjaar, Ieke
2019, Article / Letter to editor (Clinical Genetics, vol. 96, iss. 2, (2019), pp. 126-133)
Early onset as a marker for disease severity in facioscapulohumeral muscular dystrophy
Goselink, R.J.M.; Mul, K. ; Kernebeek, C.R. van ; Lemmers, R.; Maarel, S.M. van der; Schreuder, T.H.A. ; Erasmus, C.E. ; Padberg, G.W. ; Statland, J.M.; Voermans, N.C. ; Engelen, B.G.M. van et al. sine al.
2019, Article / Letter to editor (Neurology, vol. 92, iss. 4, (2019), pp. e378-e385)
Skeletal muscle toxicity associated with tyrosine kinase inhibitor therapy in patients with chronic myeloid leukemia
Janssen, L.; Frambach, S.; Allard, N.A.E.; Hopman, M.T.E. ; Schirris, T.J.J.; Voermans, N.C. ; Rodenburg, R.J.T. ; Blijlevens, N.M.A. ; Timmers, S.
2019, Article / Letter to editor (Leukemia, vol. 33, iss. 8, (2019), pp. 2116-2120)
Panel-Based Exome Sequencing for Neuromuscular Disorders as a Diagnostic Service
Westra, D. ; Schouten, M.I.; Stunnenberg, B.C.; Kusters, B. ; Saris, C.G.J. ; Erasmus, C.E. ; Engelen, B.G.M. van ; Bulk, S.; Verschuuren-Bemelmans, C.C.; Gerkes, E.H.; Geus, C. de; Zwaag, P.A. van der; Chan, S.; Chung, B.; Barge-Schaapveld, D.; Kriek, M.; Sznajer, Y.; Spaendonck-Zwarts, K.Y. van; Kooi, A.J. van der; Krause, A.; Schonewolf-Greulich, B.; Die-Smulders, C.E. de; Sallevelt, S.; Krapels, I.P.C.; Rasmussen, M.; Maystadt, I.; Kievit, A.J.; Witting, N.; Pennings, M.; Meijer, R; Gillissen, C.; Kamsteeg, E.J. ; Voermans, N.C. et al. sine al.
2019, Article / Letter to editor (Journal of Neuromuscular Diseases, vol. 6, iss. 2, (2019), pp. 241-258)
Functional impairments, fatigue and quality of life in RYR1-related myopathies: A questionnaire study
Ruitenbeek, E. van; Custers, J.A.E. ; Verhaak, C.M. ; Snoeck, M.; Erasmus, C.E. ; Kamsteeg, E.J. ; Schouten, M.I.; Engelen, B.G.M. van ; Jungbluth, H.; Voermans, N.C.
2019, Article / Letter to editor (Neuromuscular Disorders, vol. 29, iss. 1, (2019), pp. 30-38)
The histopathological spectrum of malignant hyperthermia and rhabdomyolysis due to RYR1 mutations
Knuiman, G.J.; Kusters, B. ; Eshuis, L.; Snoeck, M.; Lammens, M.; Heytens, L.; Ridder, W. De; Baets, J.; Scalco, R.S.; Quinlivan, R.; Holton, J.; Bodi, I.; Wraige, E.; Radunovic, A.; Landenberg, C. von; Reimann, J.; Kamsteeg, E.J. ; Sewry, C.; Jungbluth, H.; Voermans, N.C. et al. sine al.
2019, Article / Letter to editor (Journal of Neurology, vol. 266, iss. 4, (2019), pp. 876-887)
High incidence of falls in patients with myotonic dystrophy type 1 and 2: A prospective study
Berends, Joost; Tieleman, A.A. ; Horlings, G.C. ; Smulders, Fran H. P.; Voermans, N.C. ; Engelen, B.G.M. van ; Raaphorst, J.
2019, Article / Letter to editor (Neuromuscular Disorders, vol. 29, iss. 10, (2019), pp. 758-765)
Cytidine Diphosphate-Ribitol Analysis for Diagnostics and Treatment Monitoring of Cytidine Diphosphate-l-Ribitol Pyrophosphorylase A Muscular Dystrophy
Tol, W. van; Scherpenzeel, M. van; Alsady, M. ; Riemersma, M. ; Hermans, E.; Kragt, E.; Tasca, G.; Kamsteeg, E.J. ; Pennings, M.; Beusekom, E. van ; Vermeulen, J.R.; Bokhoven, H. van ; Voermans, N.C. ; Willemsen, M.A. ; Ashikov, A.M.; Lefeber, D.J. et al. sine al.
2019, Article / Letter to editor (Clinical Chemistry, vol. 65, iss. 10, (2019), pp. 1295-1306)
Scapular dyskinesis in myotonic dystrophy type 1: clinical characteristics and genetic investigations
Voermans, N.C. ; Bilt, R.C. van der; Ijspeert, J.; Hogrel, J.Y.; Jeanpierre, M.; Behin, A.; Engelen, B.G.M. van ; Padberg, G.W. ; Eymard, B.; Bassez, G.
2019, Article / Letter to editor (Journal of Neurology, vol. 266, iss. 12, (2019), pp. 2987-2996)
MRI in sarcoglycanopathies: a large international cohort study
Tasca, Giorgio; Monforte, Mauro; Diaz-Manera, Jordi; Brisca, Giacomo; Semplicini, Claudio; D'Amico, Adele; Voermans, N.C. ; Engelen, B.G.M. van ; Ricci, Enzo; Bruno, Claudio
2018, Article / Letter to editor (Journal of Neurology, Neurosurgery, and Psychiatry, vol. 89, iss. 1, (2018), pp. 72-77)
Two new cases of mitochondrial myopathy with exercise intolerance, hyperlactatemia and cardiomyopathy, caused by recessive SLC25A4 mutations
Tosserams, Anouk; Papadopoulos, Constantinos; Jardel, Claude; Lemiere, Isabelle; Romero, N.B.; Lonlay, Pascale De; Voermans, N.C. ; Hogrel, J.Y.; Laforet, P.
2018, Article / Letter to editor (Mitochondrion, vol. 39, (2018), pp. 26-29)
Evidence of ER stress and UPR activation in patients with Brody disease and Brody syndrome
Guglielmi, V.; Voermans, N.C. ; Oosterhof, A. ; Nowis, D.; Engelen, B.G.M. van ; Tomelleri, G.; Vattemi, G.
2018, Article / Letter to editor (Neuropathology and Applied Neurobiology, vol. 44, iss. 5, (2018), pp. 533-536)
Repeatability and reliability of muscle relaxation properties induced by motor cortical stimulation
Molenaar, J.P.; Voermans, N.C. ; Jong, L.A de; Stegeman, D.F. ; Doorduin, J. ; Engelen, B.G.M. van
2018, Article / Letter to editor (Journal of Applied Physiology, vol. 124, iss. 6, (2018), pp. 1597-1604)
The extracellular matrix glycoprotein tenascin-X regulates peripheral sensory and motor neurones
Aktar, Rubina; Peiris, Madusha; Fikree, Asma; Cibert-Goton, Vincent; Walmsley, M.C.; Tough, Iain R.; Voermans, N.C. ; Aziz, Qasim; Blackshaw, L.Ashley
2018, Article / Letter to editor (Journal of Physiology, vol. 596, iss. 17, (2018), pp. 4237-4251)
MRI-Guided Biopsy as a Tool for Diagnosis and Research of Muscle Disorders
Lassche, S.; Janssen, B.H.; Ijzermans, T.; Futterer, J.J. ; Voermans, N.C. ; Heerschap, A. ; Kusters, B. ; Mann, R.M. ; Engelen, B.G.M. van
2018, Article / Letter to editor (Journal of Neuromuscular Diseases, vol. 5, iss. 3, (2018), pp. 315-319)
Mastication and Oral Motor Function in McArdle Disease: Patient Reported Complaints
Kouwenberg, C.V.; Voermans, N.C. ; Quinlivan, R.; Engel-Hoek, L. van den
2018, Article / Letter to editor (Journal of Neuromuscular Diseases, vol. 5, iss. 3, (2018), pp. 353-357)
Cis D4Z4 repeat duplications associated with facioscapulohumeral muscular dystrophy type 2
Lemmers, Richard J. L. F.; Vliet, P.J. van der; Vreijling, Jeroen P.; Henderson, D.; Stoep, N. van der; Voermans, N.C. ; Engelen, B.G.M. van ; Tawil, R.; Maarel, S.M. van der
2018, Article / Letter to editor (Human Molecular Genetics, vol. 27, iss. 20, (2018), pp. 3488-3497)
Experiences with bariatric surgery in patients with facioscapulohumeral dystrophy and myotonic dystrophy type 1: A qualitative study
Abel, Esther E.D.H.; Cup, E.H.C. ; Lanser, Anke; Leclercq, Wouter K.G.; Raaphorst, J.; Padberg, G.W. ; Satink, Ton; Voermans, N.C.
2018, Article / Letter to editor (Neuromuscular Disorders, vol. 28, iss. 11, (2018), pp. 938-946)
Dejerine-Sottas disease in childhood-Genetic and sonographic heterogeneity
Hobbelink, Sanne M.R.; Brockley, Cain R.; Kennedy, Rachel A.; Carroll, Kate; Valle, Katy de; Rao, Padma; Voermans, N.C. ; Ryan, Monique M.; Yiu, Eppie M.
2018, Article / Letter to editor (Brain and Behavior, vol. 8, iss. 4, (2018), article e00919)
A 22-year follow-up reveals a variable disease severity in early-onset facioscapulohumeral dystrophy
Goselink, R.J.M.; Kernebeek, C.R. van ; Mul, K. ; Lemmers, R.J.L.F.; Maarel, S.M. van der; Brouwer, O.F.; Voermans, N.C. ; Padberg, G.W.A.M. ; Erasmus, C.E. ; Engelen, B.G.M. van
2018, Article / Letter to editor (European Journal of Paediatric Neurology, vol. 22, iss. 5, (2018), pp. 782-785)
Graves' disease and celiac disease in a patient with myotonic dystrophy type 2
Damen, M.J.; Meer, A. van der ; Voermans, N.C. ; Tieleman, A.A.
2018, Article / Letter to editor (Neuromuscular Disorders, vol. 28, iss. 10, (2018), pp. 878-880)
A family-based study into penetrance in facioscapulohumeral muscular dystrophy type 1
Wohlgemuth, M. ; Lemmers, Richard J.; Jonker, M.A.; Kooi, Elly van der; Horlings, G.C. ; Engelen, B.G.M. van ; Padberg, G.W. ; Voermans, N.C.
2018, Article / Letter to editor (Neurology, vol. 91, iss. 5, (2018), pp. E444-E454)
FSHD type 2 and Bosma arhinia microphthalmia syndrome Two faces of the same mutation
Mul, K. ; Lemmers, Richard J. L. F.; Kriek, M.; Vliet, P.J. van der; Boogaard, M.L. van den; Badrising, U.A.; Voermans, N.C. ; Engelen, B.G.M. van ; Horlings, G.C. ; Shaw, N.D.; Maarel, S.M. van der et al. sine al.
2018, Article / Letter to editor (Neurology, vol. 91, iss. 6, (2018), pp. E562-E570)
Phenotype-genotype relations in facioscapulohumeral muscular dystrophy type 1
Mul, K. ; Voermans, N.C. ; Lemmers, Richard J. L. F.; Jonker, M.A.; Vliet, Patrick J. van der; Padberg, G.W. ; Maarel, Silvere M. van der; Horlings, G.C.
2018, Article / Letter to editor (Clinical Genetics, vol. 94, iss. 6, (2018), pp. 521-527)
Lifetime endogenous estrogen exposure and disease severity in female patients with facioscapulohumeral muscular dystrophy
Mul, K. ; Horlings, G.C. ; Voermans, N.C. ; Schreuder, T.H.A. ; Engelen, B.G.M. van
2018, Article / Letter to editor (Neuromuscular Disorders, vol. 28, iss. 6, (2018), pp. 508-511)
Intact transferrin and total plasma glycoprofiling for diagnosis and therapy monitoring in phosphoglucomutase-I deficiency
AbuBakar, N. Bin; Voermans, N.C. ; Marquardt, T.; Thiel, C; Janssen, M.C.H. ; Hansikova, H.; Crushell, E.; Sykut-Cegielska, J.; Bowling, F.; MØrkrid, L.; Vissing, J.; Morava, E. ; Scherpenzeel, M. van; Lefeber, D.J. et al. sine al.
2018, Article / Letter to editor (Translational Research, vol. 199, (2018), pp. 62-76)
Phenotype and genotype of muscle ryanodine receptor rhabdomyolysis-myalgia syndrome
Witting, N.; Laforet, P.; Voermans, N.C. ; Roux-Buisson, N.; Bompaire, F.; Rendu, J.; Kamsteeg, E.J. ; Vissing, J.; Behin, A.
2018, Article / Letter to editor (Acta Neurologica Scandinavica, vol. 137, iss. 5, (2018), pp. 452-461)
PREPL deficiency: delineation of the phenotype and development of a functional blood assay
Regal, Luc; Martensson, Emma; Maystadt, I.; Voermans, N.C. ; Lederer, Damien; Burlina, A.; Schouten, M.I.; Kamsteeg, E.J. ; Creemers, John W.M.
2018, Article / Letter to editor (Genetics in Medicine, vol. 20, iss. 1, (2018), pp. 109-118)
Heterozygous missense variants of LMX1A lead to nonsyndromic hearing impairment and vestibular dysfunction
Wesdorp, F.M.; Koning Gans, P.A.M. de; Schraders, M. ; Oostrik, J. ; Huijnen, M.A. ; Venselaar, H. ; Beynon, A.J. ; Gaalen, J. van ; Piai, V. ; Voermans, N.C. ; Rossum, M.M. van ; Hartel, B.P.; Lelieveld, S.H.; Wiel, L.J.M. van de; Verbist, B.M.; Rotteveel, L.J.C. ; Dooren, M.F. van; Lichtner, P.; Kunst, H.P.M. ; Feenstra, I. ; Admiraal, R.J.C. ; Yntema, H.G. ; Hoefsloot, L.H. ; Pennings, R.J.E. ; Kremer, H. et al. sine al.
2018, Article / Letter to editor (Human Genetics, vol. 137, iss. 5, (2018), pp. 389-400)
Quantitative muscle MRI and ultrasound for facioscapulohumeral muscular dystrophy: complementary imaging biomarkers
Mul, K. ; Horlings, G.C. ; Vincenten, S.C.C.; Voermans, N.C. ; Engelen, B.G.M. van ; Alfen, N. van
2018, Article / Letter to editor (Journal of Neurology, vol. 265, iss. 11, (2018), pp. 2646-2655)
Facioscapulohumeral Dystrophy in Childhood: A Nationwide Natural History Study
Goselink, R.J.M.; Schreuder, T.H.A. ; Alfen, N. van ; Groot, I.J.M. de ; Jansen, M. ; Lemmers, Richard J. L. F.; Theelen, T. ; Voermans, N.C. ; Engelen, B.G.M. van ; Erasmus, C.E.
2018, Article / Letter to editor (Annals of Neurology, vol. 84, iss. 5, (2018), pp. 627-637)
Is Fatigue a Disease-Specific or Generic Symptom in Chronic Medical Conditions?
Menting, J.; Tack, C.J. ; Bleijenberg, G. ; Donders, R. ; Droogleever Fortuyn, H.A. ; Fransen, J. ; Kalkman, J.S. ; Strik-Albers, M.A.W.; Alfen, N. van ; Voermans, N.C. ; Engelen, B.G.M. van ; Knoop, H. et al. sine al.
2018, Article / Letter to editor (Health Psychology, vol. 37, iss. 6, (2018), pp. 530-543)
Skeletal muscle morphology, protein synthesis, and gene expression in Ehlers-Danlos syndrome
Nygaard, R.H.; Jensen, J.K.; Voermans, N.C. ; Heinemeier, K.M.; Schjerling, P.; Holm, L.; Agergaard, J.; Mackey, A.L.; Andersen, J.L.; Remvig, L.; Kjaer, M. et al. sine al.
2017, Article / Letter to editor (Journal of Applied Physiology, vol. 123, iss. 2, (2017), pp. 482-488)
Involvement of pelvic girdle and proximal leg muscles in early oculopharyngeal muscular dystrophy
Sluijs, B.M. van der ; Lassche, S.; Knuiman, G.J.; Kusters, B. ; Heerschap, A. ; Hopman, M.T. ; Schreuder, T.H. ; Engelen, B.G.M. van ; Voermans, N.C.
2017, Article / Letter to editor (Neuromuscular Disorders, vol. 27, iss. 12, (2017), pp. 1099-1105)
Early onset facioscapulohumeral dystrophy - a systematic review using individual patient data
Goselink, R.J.M.; Voermans, N.C. ; Okkersen, K.; Brouwer, O.F.; Padberg, G.W.A.M. ; Nikolic, A.; Tupler, R.; Dorobek, M.; Mah, J.K.; Engelen, B.G.M. van ; Schreuder, T.H.A. ; Erasmus, C.E. et al. sine al.
2017, Article / Letter to editor (Neuromuscular Disorders, vol. 27, iss. 12, (2017), pp. 1077-1083)
The diagnostic value of hyperammonaemia induced by the non-ischaemic forearm exercise test
Hogrel, J.Y.; Janssen, J.B.E.; Ledoux, I.; Ollivier, G.; Behin, A.; Stojkovic, T.; Eymard, B.; Voermans, N.C. ; Laforet, P.
2017, Article / Letter to editor (Journal of Clinical Pathology : the Journal of the Association of Clinical Pathologists, vol. 70, iss. 10, (2017), pp. 896-898)
Ca2+ handling abnormalities in early-onset muscle diseases: Novel concepts and perspectives.
Treves, S.; Jungbluth, H.; Voermans, N.C. ; Muntoni, F.; Zorzato, F.
2017, Article / Letter to editor (Seminars in Cell & Developmental Biology, vol. 64, (2017), pp. 201-212)
The 2017 international classification of the Ehlers-Danlos syndromes.
Malfait, F.; Francomano, C.; Byers, P.; Belmont, J.; Berglund, B.; Black, J.; Bloom, L.; Bowen, J.M.; Brady, A.F.; Burrows, N.P.; Castori, M.; Cohen, H.; Colombi, M.; Demirdas, S.; Backer, J. De; Paepe, A. De; Fournel-Gigleux, S.; Frank, M.; Ghali, N.; Giunta, C.; Grahame, R.; Hakim, A.; Jeunemaitre, X.; Johnson, D.; Juul-Kristensen, B.; Kapferer-Seebacher, I.; Kazkaz, H.; Kosho, T.; Lavallee, M.E.; Levy, H.; Mendoza-Londono, R.; Pepin, M.; Pope, F.M.; Reinstein, E.; Robert, L.; Rohrbach, M.; Sanders, L.; Sobey, G.J.; Damme, T. Van; Vandersteen, A.; Mourik, C. van; Voermans, N.C. ; Wheeldon, N.; Zschocke, J.; Tinkle, B. et al. sine al.
2017, Article / Letter to editor (American Journal of Medical Genetics Part C : Seminars in Medical Genetics, vol. 175, iss. 1, (2017), pp. 8-26)
The Ehlers-Danlos syndromes, rare types.
Brady, A.F.; Demirdas, S.; Fournel-Gigleux, S.; Ghali, N.; Giunta, C.; Kapferer-Seebacher, I.; Kosho, T.; Mendoza-Londono, R.; Pope, M.F.; Rohrbach, M.; Damme, T. Van; Vandersteen, A.; Mourik, C. van; Voermans, N.C. ; Zschocke, J.; Malfait, F. et al. sine al.
2017, Article / Letter to editor (American Journal of Medical Genetics Part C : Seminars in Medical Genetics, vol. 175, iss. 1, (2017), pp. 70-115)
Neurological and spinal manifestations of the Ehlers-Danlos syndromes
Henderson, F.C.; Austin, C.; Benzel, E.; Bolognese, P.; Ellenbogen, R.; Francomano, C.A.; Ireton, C.; Klinge, P.; Koby, M.; Long, D.; Patel, S.; Singman, E.L.; Voermans, N.C. et al. sine al.
2017, Article / Letter to editor (American Journal of Medical Genetics Part C : Seminars in Medical Genetics, vol. 175, iss. 1, (2017), pp. 195-211)
Recognizing the tenascin-X deficient type of Ehlers-Danlos syndrome: a cross-sectional study in 17 patients
Demirdas, S.; Dulfer, E.; Robert, L.; Kempers, M.J.E. ; Beek, D. van de; Micha, D.; Engelen, B.G.M. van ; Hamel, B.C.J. ; Schalkwijk, J. ; Loeys, B.L.; Maugeri, A.; Voermans, N.C. et al. sine al.
2017, Article / Letter to editor (Clinical Genetics, vol. 91, iss. 3, (2017), pp. 411-425)
PGM1 deficiency: Substrate use during exercise and effect of treatment with galactose
Voermans, N.C. ; Preisler, N.; Madsen, K.L.; Janssen, M.C.H. ; Kusters, B. ; AbuBakar, N. Bin; Conte, F. ; Lamberti, V.M.; Nusman, F.; Engelen, B.G.M. van ; Scherpenzeel, M. van; Vissing, J.; Lefeber, D.J. et al. sine al.
2017, Article / Letter to editor (Neuromuscular Disorders, vol. 27, iss. 4, (2017), pp. 370-376)
Adding quantitative muscle MRI to the FSHD clinical trial toolbox
Mul, K. ; Vincenten, S.C.C.; Voermans, N.C. ; Lemmers, R.; Vliet, P.J.C. Van; Maarel, S.M. van der; Padberg, G.W.A.M. ; Horlings, G.C. ; Engelen, B.G.M. van
2017, Article / Letter to editor (Neurology, vol. 89, iss. 20, (2017), pp. 2057-2065)
Affected female carriers of MTM1 mutations display a wide spectrum of clinical and pathological involvement: delineating diagnostic clues
Biancalana, V.; Scheidecker, S.; Miguet, M.; Laquerriere, A.; Romero, N.B.; Stojkovic, T.; Neto, O. Abath; Mercier, S.; Voermans, N.C. ; Tanner, L.; Rogers, C.; Ollagnon-Roman, E.; Roper, H.; Boutte, C.; Ben-Shachar, S.; Lornage, X.; Vasli, N.; Schaefer, E.; Laforet, P.; Pouget, J.; Moerman, A.; Pasquier, L.; Marcorelle, P.; Magot, A.; Kusters, B. ; Streichenberger, N.; Tranchant, C.; Dondaine, N.; Schneider, R.; Gasnier, C.; Calmels, N.; Kremer, V.; Nguyen, K. Van; Perrier, J.; Kamsteeg, E.J. ; Carlier, P.; Carlier, R.Y.; Thompson, J.; Boland, A.; Deleuze, J.F.; Fardeau, M.; Zanoteli, E.; Eymard, B.; Laporte, J. et al. sine al.
2017, Article / Letter to editor (Acta Neuropathologica, vol. 134, iss. 6, (2017), pp. 889-904)

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