Results
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1101.
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The TRK-fused gene is mutated in hereditary motor and sensory neuropathy with proximal dominant involvement. [electronic resource] by
- Ishiura, Hiroyuki
- Sako, Wataru
- Yoshida, Mari
- Kawarai, Toshitaka
- Tanabe, Osamu
- Goto, Jun
- Takahashi, Yuji
- Date, Hidetoshi
- Mitsui, Jun
- Ahsan, Budrul
- Ichikawa, Yaeko
- Iwata, Atsushi
- Yoshino, Hiide
- Izumi, Yuishin
- Fujita, Koji
- Maeda, Kouji
- Goto, Satoshi
- Koizumi, Hidetaka
- Morigaki, Ryoma
- Ikemura, Masako
- Yamauchi, Naoko
- Murayama, Shigeo
- Nicholson, Garth A
- Ito, Hidefumi
- Sobue, Gen
- Nakagawa, Masanori
- Kaji, Ryuji
- Tsuji, Shoji
Producer: 20121022
In:
American journal of human genetics vol. 91
Availability: No items available.
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1102.
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1103.
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1104.
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Age associated axonal features in HNPP with 17p11.2 deletion in Japan. [electronic resource] by
- Koike, H
- Hirayama, M
- Yamamoto, M
- Ito, H
- Hattori, N
- Umehara, F
- Arimura, K
- Ikeda, S
- Ando, Y
- Nakazato, M
- Kaji, R
- Hayasaka, K
- Nakagawa, M
- Sakoda, S
- Matsumura, K
- Onodera, O
- Baba, M
- Yasuda, H
- Saito, T
- Kira, J
- Nakashima, K
- Oka, N
- Sobue, G
Producer: 20050906
In:
Journal of neurology, neurosurgery, and psychiatry vol. 76
Availability: No items available.
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1105.
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Mutations in the gene encoding peroxisomal alpha-methylacyl-CoA racemase cause adult-onset sensory motor neuropathy. [electronic resource] by
- Ferdinandusse, S
- Denis, S
- Clayton, P T
- Graham, A
- Rees, J E
- Allen, J T
- McLean, B N
- Brown, A Y
- Vreken, P
- Waterham, H R
- Wanders, R J
Producer: 20000228
In:
Nature genetics vol. 24
Availability: No items available.
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1106.
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Charcot-Marie-Tooth disease type I and related demyelinating neuropathies: Mutation analysis in a large cohort of Italian families. [electronic resource] by
- Mostacciuolo, M L
- Righetti, E
- Zortea, M
- Bosello, V
- Schiavon, F
- Vallo, L
- Merlini, L
- Siciliano, G
- Fabrizi, G M
- Rizzuto, N
- Milani, M
- Baratta, S
- Taroni, F
Producer: 20011212
In:
Human mutation vol. 18
Availability: No items available.
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1107.
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1108.
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1109.
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1110.
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Electromyographical and motor performance studies in the pmn mouse model of neurodegenerative disease. [electronic resource] by
- Kennel, P F
- Fonteneau, P
- Martin, E
- Schmidt, J M
- Azzouz, M
- Borg, J
- Guenet, J L
- Schmalbruch, H
- Warter, J M
- Poindron, P
Producer: 19970924
In:
Neurobiology of disease vol. 3
Availability: No items available.
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1111.
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1112.
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1113.
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1114.
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1115.
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1116.
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1117.
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The Belgian MicroArray Prenatal (BEMAPRE) database: A systematic nationwide repository of fetal genomic aberrations. [electronic resource] by
- Muys, Joke
- Blaumeiser, Bettina
- Jacquemyn, Yves
- Bandelier, Claude
- Brison, Nathalie
- Bulk, Saskia
- Chiarappa, Patrizia
- Courtens, Winnie
- De Leener, Anne
- De Rademaeker, Marjan
- Désir, Julie
- Destrée, Anne
- Devriendt, Koenraad
- Dheedene, Annelies
- Fieuw, Annelies
- Fransen, Erik
- Gatot, Jean-Stéphane
- Holmgren, Philip
- Jamar, Mauricette
- Janssens, Sandra
- Keymolen, Kathelijn
- Lederer, Damien
- Menten, Björn
- Meuwissen, Marije
- Parmentier, Benoit
- Pichon, Bruno
- Rombout, Sonia
- Sznajer, Yves
- Van Den Bogaert, Ann
- Van Den Bogaert, Kris
- Vanakker, Olivier
- Vermeesch, Joris
- Janssens, Katrien
Producer: 20190819
In:
Prenatal diagnosis vol. 38
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1118.
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A family of familial hypercholesterolemia with cerebral infarction and without coronary heart disease. An unusual case with corneal opacity, polyneuropathy and carpal tunnel syndrome in the family: therapy with probucol and tocopherol nicotinate. [electronic resource] by
- Ihara, Y
- Nobukuni, K
- Namba, R
- Kamisaka, K
- Kibata, M
- Kajinami, K
- Fujita, H
- Mabuchi, H
- Shirabe, T
- Ohshima, K
Producer: 19920312
In:
Journal of the neurological sciences vol. 106
Availability: No items available.
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1119.
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1120.
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