Search Results - "CASSANDRINI, D"

McArdle disease: a clinical review by Quinlivan, R, Buckley, J, James, M, Twist, A, Ball, S, Duno, M, Vissing, J, Bruno, C, Cassandrini, D, Roberts, M, Winer, J, Rose, M, Sewry, C

“…MethodsThe clinical phenotype of 45 genetically confirmed McArdle patients is described.ResultsIn the majority of patients (84%), the onset of symptoms was…”
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MYH7-related myopathies: clinical, histopathological and imaging findings in a cohort of Italian patients by Fiorillo, C, Astrea, G, Savarese, M, Cassandrini, D, Brisca, G, Trucco, F, Pedemonte, M, Trovato, R, Ruggiero, L, Vercelli, L, D'Amico, A, Tasca, G, Pane, M, Fanin, M, Bello, L, Broda, P, Musumeci, O, Rodolico, C, Messina, S, Vita, G L, Sframeli, M, Gibertini, S, Morandi, L, Mora, M, Maggi, L, Petrucci, A, Massa, R, Grandis, M, Toscano, A, Pegoraro, E, Mercuri, E, Bertini, E, Mongini, T, Santoro, L, Nigro, V, Minetti, C, Santorelli, F M, Bruno, C

“…Myosin heavy chain 7 (MYH7)-related myopathies are emerging as an important group of muscle diseases of childhood and adulthood, with variable clinical and…”
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Congenital muscular dystrophies with defective glycosylation of dystroglycan: A population study by MERCURI, E, MESSINA, S, BOFFI, P, CASSANDRINI, D, LAVERDA, A, MOGGIO, M, MORANDI, L, MORONI, I, PANE, M, PEZZANI, R, PICHIECCHIO, A, PINI, A, BRUNO, C, MINETTI, C, MONGINI, T, MOTTARELLI, E, RICCI, E, RUGGIERI, A, SAREDI, S, SCUDERI, C, TESSA, A, TOSCANO, A, TORTORELLA, G, MORA, M, TREVISAN, C. P, UGGETTI, C, VASCO, G, SANTORELLI, F. M, BERTINI, E, PEGORARO, E, COMI, G. P, D'AMICO, A, AIELLO, C, BIANCHERI, R, BERARDINELLI, A

“…Congenital muscular dystrophies (CMD) with reduced glycosylation of alpha-dystroglycan (alpha-DG) are a heterogeneous group of conditions associated with…”
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Clinical and neuroimaging features of the m.10197G>A mtDNA mutation: New case reports and expansion of the phenotype variability by Tolomeo, D., Rubegni, A., Severino, M., Pochiero, F., Bruno, C., Cassandrini, D., Madeo, A., Doccini, S., Pedemonte, M., Rossi, A., D'Amore, F., Donati, M.A., Di Rocco, M., Santorelli, F.M., Nesti, C.

“…Complex I (CI) is the largest component of the mitochondrial respiratory chain (MRC) and it is made up of 7 mitochondrial DNA (mtDNA)-encoded and at least 38…”
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LIMB-GIRDLE MUSCULAR DYSTROPHY WITH α-DYSTROGLYCAN DEFICIENCY AND MUTATIONS IN THE ISPD GENE by TASCA, G, MORO, F, AIELLO, C, CASSANDRINI, D, FIORILLO, C, BERTINI, E, BRUNO, C, SANTORELLI, F. M, RICCI, E

“…Defects in the posttranslational modification of alpha -dystroglycan ( alpha -DG) have been implicated in clinically distinct dystroglycanopathies that present…”
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Allelic and phenotypic heterogeneity in 49 Italian patients with the muscle form of CPT-II deficiency by Fanin, M, Anichini, A, Cassandrini, D, Fiorillo, C, Scapolan, S, Minetti, C, Cassanello, M, Donati, MA, Siciliano, G, D'Amico, A, Lilliu, F, Bruno, C, Angelini, C

“…Fanin M, Anichini A, Cassandrini D, Fiorillo C, Scapolan S, Minetti C, Cassanello M, Donati MA, Siciliano G, D’Amico A, Lilliu F, Bruno C, Angelini C. Allelic…”
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Pontocerebellar hypoplasia: Clinical, pathologic, and genetic studies by CASSANDRINI, D, BIANCHERI, R, EMMA, F, MEZZANO, P, POLITI, M. R, LAVERDA, A. M, ZARA, F, PAVONE, L, SIMONATI, A, LEUZZI, V, SANTORELLI, F. M, BERTINI, E, TESSA, A, DI ROCCO, M, DI CAPUA, M, BRUNO, C, DENORA, P. S, SARTORI, S, ROSSI, A, NOZZA, P

“…Mutations in genes encoding subunits of the tRNA-splicing endonuclease (TSEN) complex were identified in patients with pontocerebellar hypoplasia 2 (PCH2) and…”
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Clinical and genetic heterogeneity of branching enzyme deficiency (glycogenosis type IV) by BRUNO, C, VAN DIGGELEN, O. P, MORA, M, TONOLI, E, MASCELLI, S, TRAVERSO, M, PASQUINI, E, BADO, M, VILARINHO, L, VAN NOORT, G, MOSCA, F, DIMAURO, S, CASSANDRINI, D, ZARA, F, MINETTI, C, GIMPELEV, M, GIUFFRE, B, DONATI, M. A, INTROVINI, P, ALEGRIA, A, ASSERETO, S, MORANDI, L

“…Glycogen storage disease type IV (GSD-IV) is a clinically heterogeneous autosomal recessive disorder due to glycogen branching enzyme (GBE) deficiency and…”
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Cavitating leukoencephalopathy in a child carrying the mitochondrial A8344G mutation by Biancheri, R, Rossi, D, Cassandrini, D, Rossi, A, Bruno, C, Santorelli, F M

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Clinical, pathology and imaging heterogeneity in autosomal recessive RYR1 -related myopathy by Tasca, G, Fattori, F, Cassandrini, D, Catteruccia, M, Verardo, M, Vasco, G, Monforte, M, Ricci, E, Bertini, E, D'Amico, A

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Functional characterization of the c.462delA mutation in the NDUFS4 subunit gene of mitochondrial complex I by Assereto, S., Robbiano, A., Di Rocco, M., Rossi, A., Cassandrini, D., Panicucci, C., Brigati, G., Biancheri, R., Bruno, C., Minetti, C., Trucks, H., Sander, T., Zara, F., Gazzerro, E.

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Clinical and molecular features of a large cohort of Italian McArdle patients by Cassandrini, D, Tonin, P, Morandi, L, Musumeci, O, Filosto, M, Siciliano, G, Pegoraro, E, Santoro, L, Massa, R, Mongini, T, Sacchini, M, Bertini, E, Marrosu, G, Rigoldi, M, Burlina, A, Pini, A, Previtali, S, Santorelli, F, Toscano, A, Bruno, C

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MYH7-related myopathies: Clinical, histopathological and imaging findings in a cohort of Italian patients by Fiorillo, C, Savarese, M, Astrea, G, Cassandrini, D, Ruggiero, L, Fanin, M, Vercelli, L, D'Amico, A, Pane, M, Tasca, G, Morandi, M, Pegoraro, E, Santoro, L, Mercuri, E, Mora, M, Bertini, E, Minetti, C, Santorelli, F, Nigro, V, Bruno, C

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Congenital muscular dystrophies with cognitive impairment: A population study by MESSINA, S, BRUNO, C, MINETTI, C, MOGGIO, M, MONGINI, T, MOTTARELLI, E, PANE, M, PANTALEONI, C, PICHIECCHIO, A, PINI, A, RICCI, E, SAREDI, S, MORONI, I, SFRAMELI, M, TORTORELLA, G, TOSCANO, A, TREVISAN, C. P, UGGETTI, C, VASCO, G, COMI, G. P, SANTORELLI, F. M, BERTINI, E, MERCURI, E, PEGORARO, E, D'AMICO, A, BIANCHERI, R, BERARDINELLI, A, BOFFI, P, CASSANDRINI, D, FARINA, L

“…Cognitive impairment has been reported in a significant proportion of patients with congenital muscular dystrophies (CMD), generally associated with brain…”
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P.9.9 A novel de novo mutation in ACTA1 causes a congenital myopathy with misleading type 1 fiber predominance and a peculiar MRI by Castiglioni, C, Cassandrini, D, Fattori, F, Bellacchio, E, Alvarez, K, D’Amico, A, Gejman, R, Díaz, J, Santorelli, F.M, Bevilacqua, J.A, Bertini, E

“…Nemaline myopathy is a genetically heterogeneous disease showing wide clinical variability. Disease severity and prognosis range from neonatal death to almost…”
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P.9.15 Centronuclear myopathies: The experience of Italian Network for congenital myopathies by Fattori, F, Maggi, L, Bruno, C, Codemo, V, Tasca, G, Battini, R, Berardinelli, A, Catteruccia, M, Cassandrini, D, Fiorillo, C, Pane, M, Pegoraro, E, Mora, M, Morandi, L, Comi, P.G, Mercuri, E, Santoro, L, Santorelli, F.M, Bertini, E, D’Amico, A

“…Centronuclear myopathies (CNMs) are clinically and genetically heterogeneous diseases with common histological findings of centrally located nuclei in…”
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Clinical and molecular findings in patients with giant axonal neuropathy (GAN) by BRUNO, C, BERTINI, E, SCHENONE, A, MALANDRINI, A, MINETTI, C, FEDERICO, A, TONOLI, E, LISPI, M. L, CASSANDRINI, D, PEDEMONTE, M, SANTORELLI, F. M, FILOCAMO, M, DOTTI, M. T

“…Giant axonal neuropathy (GAN) is a rare autosomal recessive neurodegenerative disorder of early onset, clinically characterized by a progressive involvement of…”
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McArdle disease: molecular genetic update by Andreu, A L, Nogales-Gadea, G, Cassandrini, D, Arenas, J, Bruno, C

“…McArdle disease or Glycogenosis type V is an autosomal recessive metabolic disorder caused by a deficiency of the muscle isoform of glycogen phosphorylase…”
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Revelation of a novel CLN5 mutation in early juvenile neuronal ceroid lipofuscinosis by Cannelli, N, Nardocci, N, Cassandrini, D, Morbin, M, Aiello, C, Bugiani, M, Criscuolo, L, Zara, F, Striano, P, Granata, T, Bertini, E, Simonati, A, Santorelli, F M

“…Neuronal ceroid lipofuscinoses (NCLs) are relatively common storage diseases of childhood and early adolescence. Ultrastructural shape of storage cytosomes,…”
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Gene symbol: GNE. Disease: Inclusion body myopathy by Bruno, Claudio, Grandis, M, Cassandrini, D, Bellone, E, Mandich, P, Gulli, R

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