A gene for familial paroxysmal dyskinesia (FPD1) maps to chromosome 2q.

מאת Fouad, G. T., Servidei, S., Durcan, S., Bertini, E., Ptácek, L. J.
יצא לאור 1996

Bilateral striatal necrosis, dystonia and optic atrophy in two siblings.

מאת Leuzzi, V, Bertini, E, De Negri, A M, Gallucci, M, Garavaglia, B
יצא לאור 1992

A new de novo missense mutation in MYH2 expands clinical and genetic findings in hereditary myosin myopathies

מאת D’Amico, A., Fattori, F., Bellacchio, E., Catteruccia, M., Servidei, S., Bertini, E.
יצא לאור 2013

High dose immunoglobulin IV treatment in adrenoleukodystrophy.

מאת Cappa, M, Bertini, E, del Balzo, P, Cambiaso, P, Di Biase, A, Salvati, S
יצא לאור 1994

Interferon-alpha may benefit steroid unresponsive chronic inflammatory demyelinating polyneuropathy.

מאת Sabatelli, M, Mignogna, T, Lippi, G, Milone, M, Di Lazzaro, V, Tonali, P, Bertini, E
יצא לאור 1995

Increased muscle expression of interleukin-17 in Duchenne muscular dystrophy

מאת De Pasquale, L., D'Amico, A., Verardo, M., Petrini, S., Bertini, E., De Benedetti, F.
יצא לאור 2012

Laminopathies: many diseases, one gene. Report of the first Italian Meeting Course on Laminopathies

מאת Lattanzi, G., Benedetti, S., Bertini, E., Boriani, G., Mazzanti, L., Novelli, G., Pasquali, R., Pini, A., Politano, L.
יצא לאור 2011

NPHP1 gene deletion is a rare cause of Joubert syndrome related disorders

מאת Castori, M, Valente, E, Donati, M, Salvi, S, Fazzi, E, Procopio, E, Galluccio, T, Emma, F, Dallapiccola, B, Bertini, E, the, I
יצא לאור 2005

Dominant LMNA mutations can cause combined muscular dystrophy and peripheral neuropathy

מאת Benedetti, S, Bertini, E, Iannaccone, S, Angelini, C, Trisciani, M, Toniolo, D, Sferrazza, B, Carrera, P, Comi, G, Ferrari, M, Quattrini, A, Previtali, S
יצא לאור 2005

Antioxidant enzymes in blood of patients with Friedreich's ataxia

מאת Tozzi, G, Nuccetelli, M, Lo, B, Bernardini, S, Bellincampi, L, Ballerini, S, Gaeta, L, Casali, C, Pastore, A, Federici, G, Bertini, E, Piemonte, F
יצא לאור 2002

Spatio-temporal parameters of ataxia gait dataset obtained with the Kinect

מאת Summa, S., Tartarisco, G., Favetta, M., Buzachis, A., Romano, A., Bernava, G.M., Vasco, G., Pioggia, G., Petrarca, M., Castelli, E., Bertini, E., Schirinzi, T.
הוצא לאור ב Data Brief (2020)

Phosphomannose isomerase deficiency: a carbohydrate-deficient glycoprotein syndrome with hepatic-intestinal presentation.

מאת Jaeken, J, Matthijs, G, Saudubray, J M, Dionisi-Vici, C, Bertini, E, de Lonlay, P, Henri, H, Carchon, H, Schollen, E, Van Schaftingen, E
יצא לאור 1998

The Children’s Hospital of Philadelphia Infant Test of Neuromuscular Disorders (CHOP INTEND): Test development and reliability

מאת Glanzman, A.M., Mazzone, E., Main, M., Pelliccioni, M., Wood, J., Swoboda, K.J., Scott, C., Pane, M., Messina, S., Bertini, E., Mercuri, E., Finkel, R.S.
יצא לאור 2010

Autophagy regulates satellite cell ability to regenerate normal and dystrophic muscles

מאת Fiacco, E, Castagnetti, F, Bianconi, V, Madaro, L, De Bardi, M, Nazio, F, D'Amico, A, Bertini, E, Cecconi, F, Puri, P L, Latella, L
הוצא לאור ב Cell Death Differ (2016)

Defective dendritic cell maturation in a child with nucleotide excision repair deficiency and CD4 lymphopenia

מאת Racioppi, L, Cancrini, C, Romiti, M L, Angelini, F, Di Cesare, S, Bertini, E, Livadiotti, S, Gambarara, M G, Matarese, G, Lago Paz, F, Stefanini, M, Rossi, P
יצא לאור 2001

Fatigue and exercise intolerance in mitochondrial diseases. Literature revision and experience of the Italian Network of mitochondrial diseases

מאת Mancuso, M., Angelini, C., Bertini, E., Carelli, V., Comi, G.P., Minetti, C., Moggio, M., Mongini, T., Servidei, S., Tonin, P., Toscano, A., Uziel, G., Zeviani, M., Siciliano, G.
יצא לאור 2012

P-9 Construction of a database for a nation-wide Italian collaborative network of mitochondrial diseases

מאת Mancuso, M., Angelini, C., Bertini, E., Caldarazzo Ienco, E., Carelli, V., Comi, G.P., Minetti, C., Mongini, T., Orsucci, D., Servidei, S., Tonin, P., Toscano, A., Uziel, G., Santantonio, P., Siciliano, G.
יצא לאור 2011

Mutations of SURF-1 in Leigh disease associated with cytochrome c oxidase deficiency.

מאת Tiranti, V, Hoertnagel, K, Carrozzo, R, Galimberti, C, Munaro, M, Granatiero, M, Zelante, L, Gasparini, P, Marzella, R, Rocchi, M, Bayona-Bafaluy, M P, Enriquez, J A, Uziel, G, Bertini, E, Dionisi-Vici, C, Franco, B, Meitinger, T, Zeviani, M
יצא לאור 1998

Neurodegeneration associated with genetic defects in phospholipase A(2)

מאת Gregory, A, Westaway, S K., Holm, I E., Kotzbauer, P T., Hogarth, P, Sonek, S, Coryell, J C., Nguyen, T M., Nardocci, N, Zorzi, G, Rodriguez, D, Desguerre, I, Bertini, E, Simonati, A, Levinson, B, Dias, C, Barbot, C, Carrilho, I, Santos, M, Malik, I, Gitschier, J, Hayflick, S J.
יצא לאור 2008

Respiratory and cardiac function in congenital muscular dystrophies with alpha dystroglycan deficiency

מאת Pane, M., Messina, S., Vasco, G., Foley, A.R., Morandi, L., Pegoraro, E., Mongini, T., D’Amico, A., Bianco, F., Lombardo, M.E., Scalise, R., Bruno, C., Berardinelli, A., Pini, A., Moroni, I., Mora, M., Toscano, A., Moggio, M., Comi, G., Santorelli, F.M., Bertini, E., Muntoni, F., Mercuri, E.
יצא לאור 2012