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Volume 2; Issue 5
Main
Neurology: Genetics
Volume 2; Issue 5
Neurology: Genetics
Volume 2; Issue 5
1
MME mutation in dominant spinocerebellar ataxia with neuropathy (SCA43)
Depondt, Chantal
,
Donatello, Simona
,
Rai, Myriam
,
Wang, François Charles
,
Manto, Mario
,
Simonis, Nicolas
,
Pandolfo, Massimo
Journal:
Neurology: Genetics
Year:
2016
Language:
english
File:
PDF, 475 KB
Your tags:
english, 2016
2
KCNQ2 encephalopathy
Millichap, John J.
,
Park, Kristen L.
,
Tsuchida, Tammy
,
Ben-Zeev, Bruria
,
Carmant, Lionel
,
Flamini, Robert
,
Joshi, Nishtha
,
Levisohn, Paul M.
,
Marsh, Eric
,
Nangia, Srishti
,
Narayanan, Vinodh
,
Ortiz-Gon
Journal:
Neurology: Genetics
Year:
2016
Language:
english
File:
PDF, 574 KB
Your tags:
english, 2016
3
Complicated spastic paraplegia in patients with AP5Z1 mutations (SPG48)
Hirst, Jennifer
,
Madeo, Marianna
,
Smets, Katrien
,
Edgar, James R.
,
Schols, Ludger
,
Li, Jun
,
Yarrow, Anna
,
Deconinck, Tine
,
Baets, Jonathan
,
Van Aken, Elisabeth
,
De Bleecker, Jan
,
Datiles, Manuel B.
,
R
Journal:
Neurology: Genetics
Year:
2016
Language:
english
File:
PDF, 1.43 MB
Your tags:
english, 2016
4
Loss of MUNC13-1 function causes microcephaly, cortical hyperexcitability, and fatal myasthenia
Engel, Andrew G.
,
Selcen, Duygu
,
Shen, Xin-Ming
,
Milone, Margherita
,
Harper, C. Michel
Journal:
Neurology: Genetics
Year:
2016
Language:
english
File:
PDF, 631 KB
Your tags:
english, 2016
5
Novel mutation in mitochondrial DNA in 2 siblings with Leigh syndrome
Veerapandiyan, Aravindhan
,
Chaudhari, Amit
,
Traba, Christin M.
,
Ming, Xue
Journal:
Neurology: Genetics
Year:
2016
Language:
english
File:
PDF, 256 KB
Your tags:
english, 2016
6
Late-onset Lafora disease with prominent parkinsonism due to a rare mutation in EPM2A
Lynch, David S.
,
Wood, Nicholas W.
,
Houlden, Henry
Journal:
Neurology: Genetics
Year:
2016
Language:
english
File:
PDF, 404 KB
Your tags:
english, 2016
7
Mutated CTSF in adult-onset neuronal ceroid lipofuscinosis and FTD
van der Zee, Julie
,
Mariën, Peter
,
Crols, Roeland
,
Van Mossevelde, Sara
,
Dillen, Lubina
,
Perrone, Federica
,
Engelborghs, Sebastiaan
,
Verhoeven, Jo
,
D'aes, Tine
,
Ceuterick-De Groote, Chantal
,
Sieben, A
Journal:
Neurology: Genetics
Year:
2016
Language:
english
File:
PDF, 1015 KB
Your tags:
english, 2016
8
Complicated spastic paraplegia in patients with AP5Z1 mutations (SPG48)
Journal:
Neurology: Genetics
Year:
2016
Language:
english
File:
PDF, 116 KB
Your tags:
english, 2016
9
Novel GNB1 missense mutation in a patient with generalized dystonia, hypotonia, and intellectual disability
Steinrücke, Sofia
,
Lohmann, Katja
,
Domingo, Aloysius
,
Rolfs, Arndt
,
Bäumer, Tobias
,
Spiegler, Juliane
,
Hartmann, Corinna
,
Münchau, Alexander
Journal:
Neurology: Genetics
Year:
2016
Language:
english
File:
PDF, 337 KB
Your tags:
english, 2016
10
Novel TK2 mutations as a cause of delayed muscle maturation in mtDNA depletion syndrome
Termglinchan, Thanes
,
Hisamatsu, Seito
,
Ohmori, Junko
,
Suzumura, Hiroshi
,
Sumitomo, Noriko
,
Imataka, George
,
Arisaka, Osamu
,
Murakami, Nobuyuki
,
Minami, Narihiro
,
Akihiko, Ishiyama
,
Sasaki, Masayuki
,
Journal:
Neurology: Genetics
Year:
2016
Language:
english
File:
PDF, 612 KB
Your tags:
english, 2016
11
Reassessing carrier status for dystrophinopathies
Newcomb, Tara M.
,
Flanigan, Kevin M.
Journal:
Neurology: Genetics
Year:
2016
Language:
english
File:
PDF, 167 KB
Your tags:
english, 2016
12
Outdated risk assessment in a family with Duchenne dystrophy: Implications for duty to reassess
Bogue, Lauren
,
Ramchandren, Sindhu
Journal:
Neurology: Genetics
Year:
2016
Language:
english
File:
PDF, 278 KB
Your tags:
english, 2016
13
Helix: October 2016 issue
Pulst, Stefan M.
Journal:
Neurology: Genetics
Year:
2016
Language:
english
File:
PDF, 169 KB
Your tags:
english, 2016
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