L. Merlini

A. Parmeggiani, L. Merlini, A. Dormi, 2020, Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology.

Survival motor neuron gene transcript analysis in muscles from spinal muscular atrophy patients.

B. Dallapiccola, A. Pizzuti, G. Novelli, 1995, Biochemical and biophysical research communications.

Phenotype modulators in myophosphorylase deficiency

C. Angelini, G. Siciliano, P. Tonin, 2003, Annals of neurology.

Emery-Dreifuss Muscular Dystrophy

N. Maraldi, L. Merlini, Luciano Merlini, 2014 .

Emerin—prelamin A interplay in human fibroblasts

N. Maraldi, C. Capanni, G. Lattanzi, 2009, Biology of the cell.

Nuclear envelope proteins and chromatin arrangement: a pathogenic mechanism for laminopathies.

N. Maraldi, C. Capanni, F. Manzoli, 2006, European journal of histochemistry : EJH.

Emerin expression at the early stages of myogenic differentiation.

C. Capanni, D. Toniolo, A. Ognibene, 2000, Differentiation; research in biological diversity.

Autophagy is defective in collagen VI muscular dystrophies, and its reactivation rescues myofiber degeneration

N. Maraldi, M. Sandri, E. Bertaggia, 2010, Nature Medicine.

Dystrophin levels as low as 30% are sufficient to avoid muscular dystrophy in the human

F. Muntoni, A. Ferlini, P. Spitali, 2007, Neuromuscular Disorders.

Sarcopenia and Sarcopenic Obesity in Patients with Muscular Dystrophy

D. Cocchi, A. Vagheggini, L. Merlini, 2014, Front. Aging Neurosci..

Body Composition, Muscle Strength, and Physical Function of Patients with Bethlem Myopathy and Ullrich Congenital Muscular Dystrophy

D. Cocchi, F. Bruno, L. Merlini, 2013, TheScientificWorldJournal.

Dystrophin characterization in BMD patients: correlation of abnormal protein with clinical phenotype

L. Morandi, A. Pini, R. Mantegazza, 1995, Journal of the Neurological Sciences.

Transcriptional behavior of DMD gene duplications in DMD/BMD males

E. Bertini, M. Pane, E. Mercuri, 2009, Human mutation.

Isokinetic muscle testing (IMT) in neuromuscular diseases. Preliminary report

L. Merlini, D. Dell'Accio, Anna Holzl, 1992, Neuromuscular Disorders.

A 3' consensus splice mutation in the human dystrophin gene detected by a screening for intra-exonic deletions.

G. Danieli, M. Mostacciuolo, L. Vitiello, 1992, Human molecular genetics.

Phenotypic clustering of lamin A/C mutations in neuromuscular patients

E. Bertini, G. Comi, R. Caldara, 2007, Neurology.

125th ENMC International Workshop: Neuromuscular Disorders in the Roma (Gypsy) Population, 23–25 April 2004, Naarden, The Netherlands

F. Baas, Hanns Lochmüller, L. Kalaydjieva, 2005, Neuromuscular Disorders.

Growth hormone evaluation in duchenne muscular dystrophy

F. Cornelio, L. Merlini, E. Cacciari, 1988, The Italian Journal of Neurological Sciences.

Monoamine oxidase inhibition prevents mitochondrial dysfunction and apoptosis in myoblasts from patients with collagen VI myopathies

P. Bonaldo, P. Bernardi, F. Di Lisa, 2014, Free radical biology & medicine.

Extracellular matrix and nuclear abnormalities in skeletal muscle of a patient with Walker-Warburg syndrome caused by POMT1 mutation.

N. Maraldi, C. Capanni, G. Lattanzi, 2003, Biochimica et biophysica acta.

Expression of collagen VI α5 and α6 chains in human muscle and in Duchenne muscular dystrophy-related muscle fibrosis

A. Ferlini, N. Maraldi, M. Paulsson, 2012, Matrix biology : journal of the International Society for Matrix Biology.

[Orthopedic surgery to prolong walking in Duchenne muscular dystrophy].

L. Merlini, S. Giannini, C. Granata, 1988, La Chirurgia degli organi di movimento.

Surgical Treatment of Neck Hyperextension in Myopathies

S. Giannini, L. Merlini, F. Ceccarelli, 2005, Clinical orthopaedics and related research.

Spinal Muscular Atrophy: Natural History and Orthopaedic Treatment of Scoliosis

S. Stagni, L. Merlini, E. Magni, 1989, Spine.

Mutations in COL6A3 cause severe and mild phenotypes of Ullrich congenital muscular dystrophy.

B. Echenne, H. Topaloglu, A. Ferreiro, 2002, American journal of human genetics.

Clinical and molecular genetic spectrum of autosomal dominant Emery‐Dreifuss muscular dystrophy due to mutations of the lamin A/C gene

E. Mercuri, K. Bushby, F. Muntoni, 2000, Annals of neurology.

Therapy of collagen VI-related myopathies (Bethlem and Ullrich)

P. Bernardi, L. Merlini, 2008, Neurotherapeutics.

Autosomal recessive myosclerosis myopathy is a collagen VI disorder

P. Bonaldo, P. Sabatelli, L. Merlini, 2008, Neurology.

Clinical and imaging findings in six cases of congenital muscular dystrophy with rigid spine syndrome linked to chromosome 1p (RSMD1)

E. Mercuri, F. Muntoni, S. Counsell, 2002, Neuromuscular Disorders.

The phenotype of motor neuropathies associated with BSCL2 mutations is broader than Silver syndrome and distal HMN type V.

N. Verpoorten, V. Timmerman, P. de Jonghe, 2004, Brain : a journal of neurology.

Autophagy activation in COL6 myopathic patients by a low-protein-diet pilot trial

D. Cocchi, N. Maraldi, M. Sandri, 2016, Autophagy.

NIM811, a cyclophilin inhibitor without immunosuppressive activity, is beneficial in collagen VI congenital muscular dystrophy models.

N. Maraldi, P. Braghetta, P. Bonaldo, 2014, Human molecular genetics.

Early Morphological Changes of the Rectus Femoris Muscle and Deep Fascia in Ullrich Congenital Muscular Dystrophy

P. Sabatelli, L. Merlini, V. Cenni, 2022, International journal of environmental research and public health.

Tendon Extracellular Matrix Remodeling and Defective Cell Polarization in the Presence of Collagen VI Mutations

D. Tigani, F. Traina, D. Andrenacci, 2020, Cells.

Role of Gabapentin in Spinal Muscular Atrophy

E. Bertini, C. Angelini, A. Solari, 2003, Journal of child neurology.

Motor function–muscle strength relationship in spinal muscular atrophy

E. Bertini, C. Angelini, C. Minetti, 2004, Muscle & nerve.

Defective collagen VI α6 chain expression in the skeletal muscle of patients with collagen VI-related myopathies

A. Ferlini, M. Paulsson, P. Sabatelli, 2014, Biochimica et biophysica acta.

Critical Evaluation of the Use of Cell Cultures for Inclusion in Clinical Trials of Patients Affected by Collagen VI Myopathies

P. Bonaldo, P. Bernardi, A. Angelin, 2011, Journal of cellular physiology.

Bethlem myopathy (BETHLEM) and Ullrich scleroatonic muscular dystrophy: 100th ENMC International Workshop, 23–24 November 2001, Naarden, The Netherlands

E. Bertini, B. Giusti, K. Bushby, 2002, Neuromuscular Disorders.

Bethlem myopathy: Early-onset benign autosomal dominant myopathy with contractures. Description of two new families

L. Merlini, L. Morandi, C. Granata, 1994, Neuromuscular Disorders.

Collagen VI deficiency affects the organization of fibronectin in the extracellular matrix of cultured fibroblasts.

E. Bertini, N. Maraldi, C. Capanni, 2001, Matrix biology : journal of the International Society for Matrix Biology.

Genomic and transcription studies as diagnostic tools for a prenatal detection of X‐linked dilated cardiomyopathy due to a dystrophin gene mutation

F. Muntoni, E. Calzolari, A. Ferlini, 2005, American journal of medical genetics. Part A.

Mutation analysis of the lamin A/C gene (LMNA) among patients with different cardiomuscular phenotypes

G. Boriani, A. Dello Russo, E. Ricci, 2003, Journal of medical genetics.

82nd ENMC international workshop, 5th international Emery–Dreifuss muscular dystrophy (EDMD) workshop, 1st Workshop of the MYO-CLUSTER project EUROMEN (European muscle envelope nucleopathies), 15–16 September 2000, Naarden, The Netherlands

F. Muntoni, D. Duboc, H. Worman, 2002, Neuromuscular Disorders.

Frequent low penetrance mutations in the Lamin A/C gene, causing Emery Dreifuss muscular dystrophy

E. Ricci, D. Toniolo, F. Hanisch, 2002, Neuromuscular Disorders.

Alisporivir rescues defective mitochondrial respiration in Duchenne muscular dystrophy

P. Bernardi, V. Petronilli, S. Menazza, 2017, Pharmacological research.

Melanocytes from Patients Affected by Ullrich Congenital Muscular Dystrophy and Bethlem Myopathy have Dysfunctional Mitochondria That Can be Rescued with Cyclophilin Inhibitors

N. Maraldi, N. Zini, P. Bernardi, 2014, Front. Aging Neurosci..

Ultrastructural changes in muscle cells of patients with collagen VI-related myopathies.

N. Maraldi, P. Sabatelli, L. Merlini, 2019, Muscles, ligaments and tendons journal.

A novel Alu-like element rearranged in the dystrophin gene causes a splicing mutation in a family with X-linked dilated cardiomyopathy.

F. Muntoni, A. Branzi, A. Ferlini, 1998, American journal of human genetics.

Homogeneous phenotype of the gypsy limb-girdle MD with the γ-sarcoglycan C283Y mutation

A. Toutain, B. Echenne, L. Kalaydjieva, 2000, Neurology.

Central sensitization in chronic low back pain: A narrative review.

L. Merlini, M. A. Rosa, C. Faldini, 2016, Journal of back and musculoskeletal rehabilitation.

Mutations of the same sequence of the myelin P0 gene causing two different phenotypes

M. Mostacciuolo, L. Merlini, A. Rampazzo, 1998, Human mutation.

Identification of novel GDAP1 mutations causing autosomal recessive Charcot-Marie-Tooth disease

Luciano Merlini, V. Timmerman, E. Nelis, 2003, Neuromuscular Disorders.

GDAP1 mutations in Czech families with early-onset CMT

S. Züchner, P. Vondracek, E. Nelis, 2007, Neuromuscular Disorders.

Hereditary motor and sensory neuropathy‐russe: New autosomal recessive neuropathy in balkan gypsies

L. Kalaydjieva, P. Thomas, R. King, 2001, Annals of neurology.

Corticosteroid Treatment Impact on Spinal Deformity in Duchenne Muscular Dystrophy

F. Traina, L. Merlini, M. A. Rosa, 2014, International scholarly research notices.

Refined mapping of the HMSNR critical gene region—construction of a high-density integrated genetic and physical map

L. French, L. Kalaydjieva, J. Colomer, 2003, Neuromuscular Disorders.

Chlorthalidone Alone or in Fixed Combination with Slow-Release Metoprolol in the Management of Arterial Hypertension: A Long-Term Study of 545 Patients

O. Gambini, L. Merlini, E. Bichisao, 1989, The Journal of international medical research.

A novel 9-bp insertion in the GJB1 gene causing a mild form of X-linked CMT with late onset

G. Vazza, M. Mostacciuolo, L. Merlini, 2006, Neuromuscular Disorders.

Hereditary motor and sensory neuropathy Lom

D. Gresham, L. Kalaydjieva, R. King, 2001 .

Charcot‐Marie‐Tooth disease type I and related demyelinating neuropathies: Mutation analysis in a large cohort of Italian families

G. Siciliano, M. Mostacciuolo, F. Taroni, 2001, Human mutation.

Hereditary motor and sensory neuropathy – Lom (HMSNL): refined genetic mapping in Romani (Gypsy) families from several European countries

F. Baas, A. Starr, D. Gresham, 2000, Neuromuscular Disorders.

Hereditary motor and sensory neuropathy Lom type in an Italian Gypsy family

L. Kalaydjieva, A. Malandrini, M. Villanova, 1998, Neuromuscular Disorders.

Homozygosity mapping of families with recessive Charcot-Marie-Tooth neuropathies

V. Timmerman, M. Villanova, E. Nelis, 2001 .

Inheritance of a 38‐kb fragment in apparently sporadic facioscapulohumeral muscular dystrophy

F. Vitelli, G. Guazzi, A. Malandrini, 1999, Muscle & nerve.

Deletion analysis of SMN and NAIP genes in spinal muscular atrophy Italian families

B. Dallapiccola, A. Pizzuti, G. Novelli, 1996, Muscle & nerve.

A novel custom high density-comparative genomic hybridization array detects common rearrangements as well as deep intronic mutations in dystrophinopathies

F. Muntoni, M. Falzarano, A. Ferlini, 2008, BMC Genomics.

The clinical, histologic, and genotypic spectrum of SEPN1-related myopathy

E. Bertini, B. Schlotter-Weigel, E. Malfatti, 2020, Neurology.

Collagen VI Status and Clinical Severity in Ullrich Congenital Muscular Dystrophy: Phenotype Analysis of 11 Families Linked to the COL6 Loci

B. Echenne, H. Topaloglu, A. Ferreiro, 2004, Neuropediatrics.

108th ENMC International Workshop, 3rd Workshop of the MYO-CLUSTER project: EUROMEN, 7th International Emery-Dreifuss Muscular Dystrophy (EDMD) Workshop, 13–15 September 2002, Naarden, The Netherlands

G. Boriani, Y. Pinto, F. Muntoni, 2003, Neuromuscular Disorders.

Genetic characterization in symptomatic female DMD carriers: lack of relationship between X-inactivation, transcriptional DMD allele balancing and phenotype

E. Bertini, M. Pane, E. Mercuri, 2012, BMC Medical Genetics.

Mutation profile of the GAA gene in 40 Italian patients with late onset glycogen storage disease type II

B. Bembi, E. Buratti, M. Filocamo, 2006, Human mutation.

Protein aggregates and autophagy involvement in a family with a mutation in Z-band alternatively spliced PDZ-motif protein

F. Santorelli, P. Sabatelli, L. Merlini, 2020, Neuromuscular Disorders.

Epidemiology of neuromuscular disorders in the under-20 population in Bologna province, Italy

S. Stagni, L. Merlini, C. Granata, 1992, Neuromuscular Disorders.

X‐linked vacuolated myopathy: Membrane attack complex deposition on the surface membrane of injured muscle fibers is not accompanied by S‐protein

M. Villanova, M. Fardeau, L. Merlini, 1998, Muscle & nerve.

Lamin A N-terminal phosphorylation is associated with myoblast activation: impairment in Emery–Dreifuss muscular dystrophy

C. Capanni, A. Ognibene, G. Lattanzi, 2005, Journal of Medical Genetics.

Emerin presence in platelets

S. Petrini, G. Zauli, C. Capanni, 2000, Acta Neuropathologica.

Genetics of laminin α2 chain (or merosin) deficient congenital muscular dystrophy: from identification of mutations to prenatal diagnosis

C. Richelme, M. Nissinen, A. Barois, 1997, Neuromuscular Disorders.

Long-term results of spine surgery in Duchenne muscular dystrophy

S. Cervellati, L. Merlini, S. Giannini, 1996, Neuromuscular Disorders.

Nuclear changes in a case of X‐linked Emery‐Dreifuss muscular dystrophy

S. Petrini, M. Villanova, A. Ognibene, 1999, Muscle & nerve.

Improving clinical trial design for Duchenne muscular dystrophy

P. Sabatelli, L. Merlini, 2015, BMC Neurology.

Calf myopathy with a twist

L. Merlini, 1994, Neuromuscular Disorders.

Protein O-mannosyltransferase activities in lymphoblasts from patients with α-dystroglycanopathies

N. Romero, F. Leturcq, B. Estournet, 2008, Neuromuscular Disorders.

Comparison of PRZM-2 computer model predictions with field data on the fate of napropamide and pendimethalin in soils

L. Merlini, C. Vischetti, M. Businellil, 1995 .

Melanocytes—A Novel Tool to Study Mitochondrial Dysfunction in Duchenne Muscular Dystrophy

A. Ferlini, N. Maraldi, P. Bernardi, 2012, Journal of cellular physiology.

Altered expression of the MCSP/NG2 chondroitin sulfate proteoglycan in collagen VI deficiency

E. Bertini, B. Giusti, R. Carrozzo, 2005, Molecular and Cellular Neuroscience.

Decreased expression of laminin β1 in chromosome 21-linked Bethlem myopathy

A. Malandrini, M. Villanova, P. Sabatelli, 1999, Neuromuscular Disorders.

Decreased expression of laminin beta 1 in chromosome 21-linked Bethlem myopathy.

A. Malandrini, M. Villanova, P. Sabatelli, 1999, Neuromuscular Disorders.

Congenital muscular dystrophy-associated inflammatory chemokines provide axes for effective recruitment of therapeutic adult stem cell into muscles

P. Bonaldo, O. Igoucheva, L. Merlini, 2020, Stem cell research & therapy.

Fixation of Winged Scapula in Facioscapulohumeral Muscular Dystrophy

S. Giannini, V. Digennaro, L. Merlini, 2007, Clinical Medicine & Research.

A 19-year-old ambulant Duchenne patient with stunted growth on long-term corticosteroids

L. Merlini, 2014, Neuromuscular Disorders.

Unusual Laminin α2 Processing in Myoblasts from a Patient with a Novel Variant of Congenital Muscular Dystrophy

F. Muntoni, N. Maraldi, M. Villanova, 2000 .

Familial isolated hyperCKaemia associated with a new mutation in the caveolin-3 (CAV-3) gene

F. Sotgia, M. Lisanti, C. Bruno, 2002, Journal of neurology, neurosurgery, and psychiatry.

Mutations in COL 6 A 3 Cause Severe and Mild Phenotypes of Ullrich Congenital Muscular Dystrophy

B. Echenne, H. Topaloglu, A. Ferreiro, 2002 .

Congenital myopathy with hanging big toe due to homozygous myopalladin (MYPN) mutation

T. Giugliano, P. Sabatelli, L. Merlini, 2019, Skeletal Muscle.

Congenital muscular dystrophy associated with calf hypertrophy, microcephaly and severe mental retardation in three Italian families: evidence for a novel CMD syndrome

Susan C. Brown, E. Bertini, E. Mercuri, 2000, Neuromuscular Disorders.

Macrophages: A minimally invasive tool for monitoring collagen VI myopathies

P. Sabatelli, L. Merlini, F. Gualandi, 2011, Muscle & nerve.

166th ENMC International Workshop on Collagen type VI-related Myopathies, 22–24 May 2009, Naarden, The Netherlands

K. Bushby, L. Merlini, V. Allamand, 2010, Neuromuscular Disorders.

Identification of a deep intronic mutation in the COL6A2 gene by a novel custom oligonucleotide CGH array designed to explore allelic and genetic heterogeneity in collagen VI-related myopathies

E. Bertini, E. Mercuri, A. Ferlini, 2010, BMC Medical Genetics.

Autosomal recessive Bethlem myopathy

E. Mercuri, A. Ferlini, S. Messina, 2009, Neurology.

On the pathogenesis of collagen VI muscular dystrophies--comment on article of Hicks et al.

N. Maraldi, P. Bonaldo, P. Bernardi, 2009, Brain : a journal of neurology.

Novel COL6A1 splicing mutation in a family affected by mild Bethlem myopathy

B. Giusti, G. Lattanzi, P. Sabatelli, 2002, Muscle & nerve.

Merosin-negative congenital muscular dystrophy, occipital epilepsy with periodic spasms and focal cortical dysplasia. Report of three Italian cases in two families

A. Pini, M. Chevallay, G. Gobbi, 1996, Brain and Development.

Reliability of dynamic strength knee muscle testing in children.

L. Merlini, D. Dell'Accio, C. Granata, 1995, The Journal of orthopaedic and sports physical therapy.

Oral exfoliative cytology for the non-invasive diagnosis in X-linked Emery–Dreifuss muscular dystrophy patients and carriers

L. Cartegni, S. Petrini, C. Capanni, 1998, Neuromuscular Disorders.

[A case of isolated paralysis of the serratus magnus muscle].

L. Merlini, G. Maggi, S. Arlecchini, 1976, La Chirurgia degli organi di movimento.

Low-level laser therapy and invisible removal aligners.

F. Traina, P. Sabatelli, L. Merlini, 2016 .

Mutations in the O-mannosyltransferase gene POMT1 give rise to the severe neuronal migration disorder Walker-Warburg syndrome.

C. Walsh, H. Brunner, B. van der Zwaag, 2002, American journal of human genetics.

The expanding phenotype of POMT1 mutations: from Walker‐Warburg syndrome to congenital muscular dystrophy, microcephaly, and mental retardation

E. Bertini, F. Muntoni, H. Brunner, 2006, Human mutation.

POMT2 mutations cause α-dystroglycan hypoglycosylation and Walker-Warburg syndrome

M. Huynen, C. Walsh, F. Muntoni, 2005, Journal of Medical Genetics.

Congenital myopathies: clinical phenotypes and new diagnostic tools

G. Comi, E. Bertini, M. Pane, 2017, Italian Journal of Pediatrics.

PCR based mutation screening of the laminin alpha2 chain gene (LAMA2): application to prenatal diagnosis and search for founder effects in congenital muscular dystrophy.

V. Frey, J. Harpey, C. Cruaud, 1998, Journal of medical genetics.

Cationic PMMA nanoparticles bind and deliver antisense oligoribonucleotides allowing restoration of dystrophin expression in the mdx mouse.

Luciano Merlini, Paola Braghetta, Alessandra Ferlini, 2009, Molecular therapy : the journal of the American Society of Gene Therapy.

Mutation finding in patients with dysferlin deficiency and role of the dysferlin interacting proteins annexin A1 and A2 in muscular dystrophies

N. Bresolin, R. Cagliani, M. Sironi, 2005, Human mutation.

LGMD2A: genotype-phenotype correlations based on a large mutational survey on the calpain 3 gene.

J. Emparanza, D. Figarella-Branger, C. Bönnemann, 2005, Brain : a journal of neurology.

A founder mutation in the gamma-sarcoglycan gene of gypsies possibly predating their migration out of India.

J. Beckmann, K. Campbell, A. Toutain, 1996, Human molecular genetics.

Homogeneous phenotype of the gypsy limb-girdle MD with the gamma-sarcoglycan C283Y mutation.

A. Toutain, B. Echenne, L. Kalaydjieva, 2000, Neurology.

Primary adhalinopathy (alpha-sarcoglycanopathy): clinical, pathologic, and genetic correlation in 20 patients with autosomal recessive muscular dystrophy.

K. Campbell, N. Romero, F. Leturcq, 1997, Neurology.

Non‐progressive Central Core Disease with Severe Congenital Scoliosis: a Case Report

L. Merlini, C. Granata, S. Bonfiglioli, 1987, Developmental medicine and child neurology.

Rapsyn N88K is a frequent cause of congenital myasthenic syndromes in European patients

Hanns Lochmüller, G. Mildner, A. Huebner, 2003, Neurology.

Primary adhalinopathy: a common cause of autosomal recessive muscular dystrophy of variable severity

J. Beckmann, K. Campbell, N. Romero, 1995, Nature Genetics.

Identification and characterization of novel collagen VI non‐canonical splicing mutations causing ullrich congenital muscular dystrophy

E. Bertini, M. Pane, E. Mercuri, 2009, Human mutation.

Different mutations in the LMNA gene cause autosomal dominant and autosomal recessive Emery-Dreifuss muscular dystrophy.

S. Bione, P. Tonali, E. Ricci, 2000, American journal of human genetics.

X‐linked emery‐dreifuss muscular dystrophy can be diagnosed from skin biopsy or blood sample

S. Bione, L. Cartegni, L. Morandi, 1997, Annals of neurology.

Low-Rate Repetitive Nerve Stimulation Protocol in an Italian Cohort of Patients Affected by Recessive Myotonia Congenita

M. Lo Monaco, A. D’Amico, E. Valente, 2011, Journal of clinical neurophysiology : official publication of the American Electroencephalographic Society.

Alpha-lipoic Acid After Median Nerve Decompression at the Carpal Tunnel: A Randomized Controlled Trial.

N. Baldini, L. Merlini, F. Boriani, 2017, The Journal of hand surgery.

Tendon Extracellular Matrix Alterations in Ullrich Congenital Muscular Dystrophy

F. Traina, N. Maraldi, P. Sabatelli, 2016, Front. Aging Neurosci..

Association of emerin with nuclear and cytoplasmic actin is regulated in differentiating myoblasts.

N. Maraldi, C. Capanni, G. Lattanzi, 2003, Biochemical and biophysical research communications.

Collagen VI-NG2 axis in human tendon fibroblasts under conditions mimicking injury response.

F. Traina, N. Maraldi, P. Bonaldo, 2016, Matrix biology : journal of the International Society for Matrix Biology.

Effect of Mechanical Strain on the Collagen VI Pericellular Matrix in Anterior Cruciate Ligament Fibroblasts

F. Traina, N. Maraldi, P. Sabatelli, 2014, Journal of cellular physiology.

Early onset collagen VI myopathies: Genetic and clinical correlations

F. Rivier, A. Toutain, B. Echenne, 2010, Annals of neurology.

Next-generation sequencing application to investigate skeletal muscle channelopathies in a large cohort of Italian patients

M. Esposito, G. Siciliano, P. Tonin, 2020, Neuromuscular Disorders.

Mandibuloacral dysplasia is caused by a mutation in LMNA-encoding lamin A/C.

G. Scarano, B. Dallapiccola, G. Novelli, 2002, American journal of human genetics.

Immunocytochemical detection of emerin within the nuclear matrix

L. Cartegni, S. Petrini, D. Toniolo, 1997, Neuromuscular Disorders.

A novel de novo mutation in the triple helix of the COL6A3 gene in a two-generation Italian family affected by Bethlem myopathy. A diagnostic approach in the mutations' screening of type VI collagen

E. Bertini, B. Giusti, R. Abbate, 1999, Neuromuscular Disorders.

Nuclear alterations in autosomal‐dominant Emery‐Dreifuss muscular dystrophy

N. Maraldi, C. Capanni, A. Ognibene, 2001, Muscle & nerve.

Autoimmunity in intervertebral disc herniation: from bench to bedside

L. Merlini, A. Di Martino, C. Faldini, 2013, Expert opinion on therapeutic targets.

Surgical correction of cervical hyperextension in rigid spine syndrome.

L. Merlini, F. Ceccarelli, S. Giannini, 1988, Neuropediatrics.

Mutations in SEPN1 cause congenital muscular dystrophy with spinal rigidity and restrictive respiratory syndrome

F. Muntoni, N. Petit, C. Jaillard, 2001, Nature Genetics.

Fetus‐like dystrophin expression and other cytoskeletal protein abnormalities in centronuclear myopathies

M. Gebbia, L. Morandi, G. Vita, 1994, Muscle & nerve.

Rigid Spine Syndrome and Rigid Spine Sign in Myopathies

L. Merlini, C. Granata, A. Ballestrazzi, 1989, Journal of child neurology.

Genetic heterogeneity of congenital muscular dystrophy with rigid spine syndrome

F. Muntoni, B. Estournet, A. Barois, 1999, Neuromuscular Disorders.

Surgical Treatment of Neck Hyperextension in Duchenne Muscular Dystrophy by Posterior Interspinous Fusion

S. Giannini, L. Merlini, M. Romagnoli, 2006, Spine.

98th ENMC International Workshop on Congenital Muscular Dystrophy (CMD), 7th Workshop of the International Consortium on CMD, 2nd Workshop of the MYO CLUSTER project GENRE 26–28th October, 2001, Naarden, The Netherlands

E. Mercuri, K. Bushby, F. Muntoni, 2002, Neuromuscular Disorders.

Intra-operative spinal cord monitoring in orthopaedics

L. Merlini, T. Greggi, P. Parisini, 2000, Spinal Cord.

Clinical Relevance of Atrial Fibrillation/Flutter, Stroke, Pacemaker Implant, and Heart Failure in Emery-Dreifuss Muscular Dystrophy: A Long-Term Longitudinal Study

Angelo Branzi, Luciano Merlini, Giuseppe Boriani, 2003, Stroke.

Early surgery in Duchenne muscular dystrophy. Experience at Istituto Ortopedico Rizzoli, Bologna, Italy

L. Merlini, S. Giannini, C. Granata, 1994, Neuromuscular Disorders.

Surgical treatment of scoliosis in Ullrich Congenital Muscular Dystrophy: a case series of 3 patients.

L. Merlini, M. Fiore, F. Barile, 2021, Intractable & rare diseases research.

Tumor Necrosis Factor Receptor SF10A (TNFRSF10A) SNPs Correlate With Corticosteroid Response in Duchenne Muscular Dystrophy

C. Scapoli, E. Bertini, M. Pane, 2020, Frontiers in Genetics.

Cyclosporine A in Ullrich Congenital Muscular Dystrophy: Long-Term Results

E. Bertini, A. Ferlini, N. Maraldi, 2011, Oxidative medicine and cellular longevity.

Lamin A/C mutations with lipodystrophy, cardiac abnormalities, and muscular dystrophy.

P. Reiss, M. van der Valk, B. Eymard, 2002, Neurology.

Mutation spectrum in the large GTPase dynamin 2, and genotype–phenotype correlation in autosomal dominant centronuclear myopathy

Jocelyn Laporte, Luciano Merlini, Christophe Béroud, 2012, Human mutation.

The Genetic Landscape of Dystrophin Mutations in Italy: A Nationwide Study

E. Bertini, M. Pane, E. Mercuri, 2020, Frontiers in Genetics.

Early corticosteroid treatment in 4 duchenne muscular dystrophy patients: 14‐year follow‐up

A. Ferlini, L. Merlini, B. Talim, 2012, Muscle & nerve.

Non-radioactive detection of 17p11.2 duplication in CMT1A: a study of 78 patients.

G. Danieli, C. Angelini, G. Siciliano, 1994, Journal of medical genetics.

How much dystrophin to avoid muscular dystrophy

Francesco Muntoni, Luciano Merlini, Alessandra Ferlini, 2007 .

Paternal germline mosaicism in collagen VI related myopathies.

C. Bruno, A. Ferlini, L. Merlini, 2015, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

Detection of common and private mutations in the COL6A1 gene of patients with Bethlem myopathy

E. Bertini, B. Giusti, E. Mercuri, 2005, Neurology.

114th ENMC International Workshop on Congenital Muscular Dystrophy (CMD) 17–19 January 2003, Naarden, The Netherlands: (8th Workshop of the International Consortium on CMD; 3rd Workshop of the MYO-CLUSTER project GENRE)

F. Muntoni, N. Romero, H. Bokhoven, 2003, Neuromuscular Disorders.

Broad phenotypic spectrum and genotype-phenotype correlations in GMPPB-related dystroglycanopathies: an Italian cross-sectional study

G. Comi, E. Bertini, P. Striano, 2018, Orphanet Journal of Rare Diseases.

Laminopathies: from the heart of the cell to the clinics

S. Benedetti, L. Merlini, 2004, Current opinion in neurology.

Partial deficiency of the C-terminal-domain phosphatase of RNA polymerase II is associated with congenital cataracts facial dysmorphism neuropathy syndrome

K. K. Yong, N. Risch, Hua Tang, 2003, Nature Genetics.

Multiple independent molecular etiology for limb-girdle muscular dystrophy type 2A patients from various geographical origins.

J. Beckmann, J. Burgunder, J. Loiselet, 1997, American journal of human genetics.

Double missense mutation in exon 41 of the human dystrophin gene detected by double strand conformation analysis.

G. Danieli, M. Mostacciuolo, L. Merlini, 1998, American journal of medical genetics.

Hereditary motor and sensory neuropathy--Lom, a novel demyelinating neuropathy associated with deafness in gypsies. Clinical, electrophysiological and nerve biopsy findings.

A. Hristova, L. Middleton, L. Kalaydjieva, 1998, Brain : a journal of neurology.

Prelamin A-mediated recruitment of SUN1 to the nuclear envelope directs nuclear positioning in human muscle

N. Maraldi, C. Capanni, K. Scotlandi, 2011, Cell Death and Differentiation.

Variants in KIF1A gene in dominant and sporadic forms of hereditary spastic paraparesis

N. Bresolin, A. Martinuzzi, A. Toscano, 2015, Journal of Neurology.

Myotonia permanens with Nav1.4-G1306E displays varied phenotypes during course of life.

E. Bertini, A. D’Amico, G. Siciliano, 2017, Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology.

Exon skipping‐mediated dystrophin reading frame restoration for small mutations

A. Ferlini, P. Spitali, N. Maraldi, 2009, Human mutation.

Dominant mutations in the cation channel gene transient receptor potential vanilloid 4 cause an unusual spectrum of neuropathies.

K. Fischbeck, C. Shaw, C. Ludlow, 2010, Brain : a journal of neurology.

Collagen VI in the Musculoskeletal System

P. Sabatelli, L. Merlini, M. Cescon, 2023, International journal of molecular sciences.

SCOLIOSIS IN SPINAL MUSCULAR ATROPHY: NATURAL HISTORY AND MANAGEMENT

S. Cervellati, L. Merlini, R. Savini, 1989 .

[X-ray epidemiology of ligaments ossifications and disc degeneration of the cervical spine].

U. Albisinni, L. Merlini, R. Savini, 1985, La Chirurgia degli organi di movimento.

Absence of γ‐sarcoglycan (35 DAG) in autosomal recessive muscular dystrophy linked to chromosome 13q12

K. Campbell, Y. Sunada, F. Duclos, 1996, FEBS letters.

A linkage study of Emery-Dreifuss muscular dystrophy

C. Cole, M. Bobrow, V. Dubowitz, 1986, Human Genetics.

Early prednisone treatment in Duchenne muscular dystrophy

L. Merlini, B. Talim, S. Gnudi, 2003, Muscle & nerve.

Coexistence of reversible cerebral neurotoxicity and irreversible cerebellar atrophy following an intrathecal methotrexate chemotherapy: two case reports.

K. Lövblad, L. Merlini, K. Masterson, 2009, Journal of neuroradiology. Journal de neuroradiologie.

Editorial: Pathophysiological Mechanisms of Sarcopenia in Aging and in Muscular Dystrophy: A Translational Approach

P. Bonaldo, E. Marzetti, L. Merlini, 2015, Front. Aging Neurosci..

Mutational diversity and hot spots in the alpha-sarcoglycan gene in autosomal recessive muscular dystrophy (LGMD2D).

C. de Toma, K. Campbell, Y. Sunada, 1997, Journal of medical genetics.

Persistent Dystrophin Protein Restoration 90 Days after a Course of Intraperitoneally Administered Naked 2′OMePS AON and ZM2 NP-AON Complexes in mdx Mice

A. Ferlini, P. Braghetta, P. Bonaldo, 2012, Journal of biomedicine & biotechnology.

Sub-cellular localisation of fukutin related protein in different cell lines and in the muscle of patients with MDC1C and LGMD2I

Susan C. Brown, F. Muntoni, N. Romero, 2005, Neuromuscular Disorders.

PROMOTION OF AMBULATION OF PATIENTS WITH SPINAL MUSCULAR ATROPHY BY EARLY FITTING OF KNEE‐ANKLE‐FOOT ORTHOSES

L. Merlini, C. Granata, S. Bonfiglioli, 1987, Developmental medicine and child neurology.

Rigid internal fixation of the jaws in an adult patient with facio-scapulo-humeral muscular dystrophy: report of a case.

C. Marchetti, L. Merlini, A. Bianchi, 1997, Journal of cranio-maxillo-facial surgery : official publication of the European Association for Cranio-Maxillo-Facial Surgery.

Spine surgery in spinal muscular atrophy: Long-term results

S. Cervellati, L. Merlini, C. Granata, 1993, Neuromuscular Disorders.

Emery—dreifuss muscular dystrophy: Report of five cases in a family and review of the literature

L. Merlini, C. Granata, S. Bonfiglioli, 1986, Muscle & nerve.

Immunofluorescence study of a muscle biopsy from a 1-year-old patient with Walker-Warburg syndrome

S. Petrini, A. Malandrini, N. Maraldi, 1998, Acta Neuropathologica.

NaV1.4 mutations cause hypokalaemic periodic paralysis by disrupting IIIS4 movement during recovery

F. Lehmann-Horn, K. Jurkat-Rott, L. Merlini, 2014, Brain : a journal of neurology.

Genetic identity of Marinesco–Sjögren/myoglobinuria and CCFDN syndromes

J. Hallmayer, L. Kalaydjieva, H. Lochmüller, 2002, Neurology.

Aggresome–Autophagy Involvement in a Sarcopenic Patient with Rigid Spine Syndrome and a p.C150R Mutation in FHL1 Gene

N. Maraldi, M. Sandri, M. Chrisam, 2014, Front. Aging Neurosci..

Mutations spectrum of GNE in hereditary inclusion body myopathy sparing the quadriceps

J. Mendell, K. Bushby, M. Korner, 2003, Human mutation.

Heterozygous missense mutations in BSCL2 are associated with distal hereditary motor neuropathy and Silver syndrome

P. Bergh, N. Verpoorten, V. Timmerman, 2004, Nature Genetics.

90th ENMC International Workshop: European Spinal Muscular Atrophy Randomised Trial (EuroSMART) 9–10 February 2001, Naarden, The Netherlands

F. Muntoni, J. Melki, S. Rudnik-Schöneborn, 2002, Neuromuscular Disorders.

Discordant clinical outcome in type III spinal muscular atrophy sibships showing the same deletion pattern

B. Dallapiccola, G. Novelli, F. Capon, 1996, Neuromuscular Disorders.

Reliability of hand‐held dynamometry in spinal muscular atrophy

E. Mazzone, A. Solari, L. Morandi, 2002, Muscle & nerve.

Cardiac and pulmonary investigations in Bethlem myopathy.

E. Bertini, L. Merlini, A. J. van der Kooi, 2006, Archives of neurology.

The prevalence and impact of scoliosis in Pompe disease: lessons learned from the Pompe Registry.

S. Prasad, A. T. van der Ploeg, L. Merlini, 2011, Molecular genetics and metabolism.

Pompe disease: design, methodology, and early findings from the Pompe Registry.

B. Byrne, S. Prasad, A. T. van der Ploeg, 2011, Molecular genetics and metabolism.

From adhalinopathies to alpha-sarcoglycanopathies: An overview

F. Leturcq, K. Azibi, T. Voit, 1996, Neuromuscular Disorders.

Hip dislocation in spinal muscular atrophy.

S. Cervellati, L. Merlini, C. Granata, 1990, La Chirurgia degli organi di movimento.

A heterozygous splice site mutation in COL6A1 leading to an in-frame deletion of the alpha1(VI) collagen chain in an italian family affected by bethlem myopathy.

E. Bertini, B. Giusti, R. Abbate, 1999, Biochemical and biophysical research communications.

Analysis, Design and Development of a Carbon Fibre Reinforced Plastic Knee-Ankle-Foot Orthosis Prototype for Myopathic Patients

L. Merlini, L. Piancastelli, A. de Lollis, 1990, Proceedings of the Institution of Mechanical Engineers. Part H, Journal of engineering in medicine.

Dominant and recessive COL6A1 mutations in Ullrich scleroatonic muscular dystrophy

E. Bertini, B. Giusti, S. Petrini, 2005, Annals of neurology.

Deep RNA profiling identified CLOCK and molecular clock genes as pathophysiological signatures in collagen VI myopathy

G. Pesole, E. Bertini, K. Bushby, 2016, Journal of Cell Science.

Nutritional Status Evaluation in Patients Affected by Bethlem Myopathy and Ullrich Congenital Muscular Dystrophy

N. Battistini, L. Tardini, M. Busacchi, 2014, Front. Aging Neurosci..

Ultrastructural defects of collagen VI filaments in an Ullrich syndrome patient with loss of the α3(VI) N10‐N7 domains

N. Maraldi, C. Capanni, P. Bonaldo, 2006, Journal of cellular physiology.

Intracellular detection of laminin alpha 2 chain in skin by electron microscopy immunocytochemistry: comparison between normal and laminin alpha 2 chain deficient subjects.

G. Guazzi, A. Malandrini, N. Maraldi, 1997, Neuromuscular Disorders.

Intracellular detection of laminin α 2 chain in skin by electron microscopy immunocytochemistry: Comparison between normal and laminin α 2 chain deficient subjects

G. Guazzi, A. Malandrini, A. Pini, 1997, Neuromuscular Disorders.

Identification of five new mutations and three novel polymorphisms in the muscle chloride channel gene (CLCN1) in 20 Italian patients with dominant and recessive myotonia congenita

B. Dallapiccola, G. Novelli, S. Servidei, 1998, Human mutation.

Fractures in myopathies.

L. Merlini, D. Villa, S. Giannini, 1991, La Chirurgia degli organi di movimento.

Erratum to: Guidelines for the use and interpretation of assays for monitoring autophagy (3rd edition) (Autophagy, 12, 1, 1-222, 10.1080/15548627.2015.1100356

Sara W. Bird, Erinna F. Lee, Michael D. Kim, 2016 .

94. Pompe registry: Tracking pompe disease symptoms in a broad patient population

B. Byrne, L. Merlini, L. Case, 2009, Clinical Neurophysiology.

The Pompe Registry: tracking Pompe disease symptoms in a broad patient population

B. Byrne, S. Prasad, L. Merlini, 2008, Pediatric Rheumatology Online Journal.

Chronic diarrhea associated with the A3243G mtDNA mutation

G. Grieco, A. Malandrini, F. Santorelli, 2000, Neurology.

Scapulopexy of Winged Scapula Secondary to Facioscapulohumeral Muscular Dystrophy

S. Giannini, L. Merlini, F. Ceccarelli, 2006, Clinical orthopaedics and related research.

[Thoraco-scapular arthrodesis in facioscapulohumeral dystrophy].

N. Baldini, A. Toni, L. Merlini, 1986, La Chirurgia degli organi di movimento.

Editorial :Guidelines for the use and interpretation of assays for monitoring autophagy (3rd edition). DOI: 10.1080/15548627.2015.1100356;WOS:000373595400001; 2-s2.0-85013763791&;PMID: 26799652

Lee, Duchen, Izzo, 2016 .

Alopecia in Patients with Collagen VI-Related Myopathies: A Novel/Unrecognized Scalp Phenotype

B. Piraccini, M. Starace, P. Sabatelli, 2023, International journal of molecular sciences.

[Cardiologic evaluation in a family with Emery-Dreifuss muscular dystrophy].

L. Merlini, G. di Pasquale, G. Pinelli, 1987, Giornale italiano di cardiologia.

Expression of the collagen VI α5 and α6 chains in normal human skin and in skin of patients with collagen VI-related myopathies.

M. Paulsson, P. Bonaldo, A. Zamparelli, 2011, The Journal of investigative dermatology.

Expanding the clinical and genetic spectrum of pathogenic variants in STIM1

A. Federico, G. Siciliano, A. Malandrini, 2021, Muscle & nerve.

Bethlem myopathy (BETHLEM) 86th ENMC International Workshop, 10–11 November 2000, Naarden, The Netherlands

E. Bertini, K. Bushby, F. Muntoni, 2002, Neuromuscular Disorders.

Case report Decreased expression of laminin b1 in chromosome 21-linked Bethlem myopathy

A. Malandrini, M. Villanova, P. Sabatelli, 1999 .

Normal calpain expression in genetically confirmed limb–girdle muscular dystrophy type 2A

I. Richard, A. Ognibene, L. Merlini, 2001, Neurology.

Identification of five new mutations and three novel polymorphisms in the muscle chloride channel gene (CLCN1) in 20 Italian patients with dominant and recessive myotonia congenita. Mutations in brief no. 118. Online.

B. Dallapiccola, G. Novelli, F. Sangiuolo, 1998, Human Mutation.

Case report 384

U. Albisinni, L. Merlini, R. Savini, 2004, Skeletal Radiology.

Dystrophin restoration in skeletal, heart and skin arrector pili smooth muscle of mdx mice by ZM2 NP–AON complexes

A. Ferlini, N. Maraldi, P. Braghetta, 2010, Gene Therapy.

Androgen receptor gene (CAG)n repeat analysis in the differential diagnosis between Kennedy disease and other motoneuron disorders.

A. Ferlini, D. Guidetti, P. Vezzoni, 1995, American journal of medical genetics.

Vertebral compression in Duchenne muscular dystrophy following deflazacort

L. Politano, L. Merlini, B. Talim, 2002, Neuromuscular Disorders.

[Computed tomography in the diagnosis of pulmonary barotrauma associated with the adult respiratory distress syndrome].

L. Merlini, M. Tagliabue, 1994, La Radiologia medica.

Measuring muscle strength in clinical trials

L. Merlini, 2010, The Lancet Neurology.

Prenatal diagnosis of limb-girdle muscular dystrophy type 2A

J. Beckmann, I. Richard, G. Restagno, 1996, Neuromuscular Disorders.

GNE protein expression and subcellular distribution are unaltered in HIBM

Hanns Lochmüller, S. Krause, M. Walter, 2007, Neurology.

Berengario da Carpi, a pioneer in anatomy, rediscovered by Vittorio Putti

L. Merlini, P. Tomba, A. Viganò, 2003, Neuromuscular Disorders.

A manuscript worth a villa: Vittorio Putti's acquisition of the Guy de Chauliac manuscript.

L. Merlini, P. Tomba, A. Viganò, 1999, Acta orthopaedica Scandinavica.

Multifrequency bioelectric impedance measurements for predicting body water compartments in duchenne muscular dystrophy

N. Battistini, G. Bedogni, S. Severi, 1996, Neuromuscular Disorders.

New Clinical and Immunofluoresence Data of Collagen VI-Related Myopathy: A Single Center Cohort of 69 Patients

P. Sabatelli, L. Merlini, F. Gualandi, 2023, International journal of molecular sciences.

The cyclophilin inhibitor Debio 025 normalizes mitochondrial function, muscle apoptosis and ultrastructural defects in Col6a1−/− myopathic mice

P. Braghetta, P. Bonaldo, C. Baldari, 2009, British journal of pharmacology.

[Echography of neuromuscular diseases].

L. Merlini, M. Lipparini, C. Granata, 1985, La Chirurgia degli organi di movimento.

Cyclosporin A corrects mitochondrial dysfunction and muscle apoptosis in patients with collagen VI myopathies

A. Ferlini, N. Maraldi, P. Braghetta, 2008, Proceedings of the National Academy of Sciences.

Identification of muscle-specific calpain and β-sarcoglycan genes in progressive autosomal recessive muscular dystrophies

J. Beckmann, N. Chiannilkulchai, F. Duclos, 1996, Neuromuscular Disorders.

Autoimmunity in intervertebral disc herniation: from bench to bedside

L. Merlini, A. Di Martino, C. Faldini, 2013, Expert opinion on therapeutic targets.

Detecting Collagen VI in Bethlem Myopathy

P. Bonaldo, P. Sabatelli, L. Merlini, 2015, The Journal of Biological Chemistry.

Clinical analysis of 32 patients carrying R453W LMNA mutation

F. Muntoni, B. Eymard, D. Toniolo, 2002 .

Emerin—prelamin A interplay in human fibroblasts

N. Maraldi, C. Capanni, G. Lattanzi, 2009, Biology of the cell.

Cytoskeletal and extracellular matrix alterations in limb girdle muscular dystrophy 2I muscle fibers.

P. Sabatelli, L. Merlini, C. Faldini, 2012, Neurology India.

Clinical and functional characterization of a long survivor congenital titinopathy patient with a novel metatranscript-only titin variant

E. Malfatti, C. Ottenheijm, N. Romero, 2023, Acta Neuropathologica Communications.